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Keyword	DiseaseData	Statement	PubMed	Organism
nf1	nervous system tumors	Neurofibromatosis type 1 (NF1) is a dominant genetic disorder characterized by multiple benign and malignant nervous system tumors, and by learning defects in 45% of children with NF1 mutations.	11788835	Human
nf1	neurofibromatosis 1	NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.	11857752	Human
nf1	neurofibroma	It was detectable in all of the human tumor tissues tested (NF1 neurofibroma, sporadic intramedullar neurinoma, sporadic meningiomas, NF2 schwannoma, NF2 meningioma, basalioma, and naevus) as well as in cultured tumor cell lines and cultured primary cells	11888927	Human
nf1	tumor	It was detectable in all of the human tumor tissues tested (NF1 neurofibroma, sporadic intramedullar neurinoma, sporadic meningiomas, NF2 schwannoma, NF2 meningioma, basalioma, and naevus) as well as in cultured tumor cell lines and cultured primary cells	11888927	Human
nf1	tumor	In three tumor tissues tested for one NF1 exon, we found approximately twice the amount of aberrant transcript as in normal tissues.	11888927	Human
nf1	tumors	To better understand the relationship between NF1 and composite pheochromocytoma, an immunohistochemical study using anti-neuro-fibromin that is an NF1 gene product and DNA sequence of NF1 Exon 31 were carried out in five cases of composite pheochromocyto	11904334	Human
neurofibromin	neurofibroma	Neurofibromin was not expressed in Schwann cells and sustentacular cells of composite pheochromocytomas and was very weakly or negatively expressed in neurofibroma of NF1 patients.	11904334	Human
neurofibromin	neurofibromatosis	Neurofibromin insufficiency may induce abnormal proliferation of Schwann cells in composite pheochromocytomas as well as in neurofibromatosis.	11904334	Human
nf1	neurofibromatosis type 1	Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder that is caused by a mutation in the NF1 gene.	11910511	Human
nf1	neurofibromatosis type 1	The gene for neurofibromatosis type 1 (NF1), mapping to 17q11.2, has one of the highest observed mutation rates, partially because of its large size and gene conversion primed by NF1 pseudogenes.	11941479	Human
nf1	tumors	Through use of a conditional (cre/lox) allele, we show that loss of NF1 in the Schwann cell lineage is sufficient to generate tumors.	11988578	Human
nf1	regional cancer	METHODS: NF1 patients with MPNST were ascertained from two sources for our north west England population of 4.1 million in the 13 year period 1984-1996: the North West Regional NF1 Register and review of notes of patients with MPNST in the North West Regi	12011145	Human
nf1	neurofibroma	These data are in line with the concept that NF1 mutations in Schwann cells, but not in fibroblasts, correlate with neurofibroma formation.	12077526	Human
nf1	neurofibromatosis 1	Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation.	12077339	Human
nf1	astrocytoma	Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation.	12077339	Human
nf1	tumor syndrome	Individuals with the neurofibromatosis 1 (NF1) inherited tumor syndrome develop low-grade gliomas (astrocytomas) at an increased frequency, suggesting that the NF1 gene is a critical growth regulator for astrocytes.	12077339	Human
nf1	astrocytoma	In an effort to determine the contribution of the NF1 gene product, neurofibromin, to astrocyte growth regulation and NF1-associated astrocytoma formation, we generated astrocyte-specific Nf1 conditional knockout mice (Nf1(GFAP)CKO) by using Cre/LoxP tech	12077339	Mouse
nf1	tumors	Nf1 null astrocytes exhibited increased proliferation but lacked tumorigenic properties in vitro and did not form tumors when injected into immunocompromised mouse brains in vivo.	12077339	Mouse
neurofibromin	astrocytoma	Collectively, our results suggest that loss of neurofibromin is not sufficient for astrocytoma formation in mice and that other genetic or environmental factors might influence NF1-associated glioma tumorigenesis.	12077339	Mouse
neurofibromin	glioma	Collectively, our results suggest that loss of neurofibromin is not sufficient for astrocytoma formation in mice and that other genetic or environmental factors might influence NF1-associated glioma tumorigenesis.	12077339	Mouse
nf1	spinal neurofibromatosis	Linkage analysis in two families and identification of a NF1 gene mutation in a third family strongly associate spinal neurofibromatosis with the NF1 gene.	12082509	Human
nf1	spinal neurofibromatosis	The involvement of other genes linked to the NF1 gene or modifying genes is currently the most likely explanation for the clinical phenotype of spinal neurofibromatosis.	12082509	Human
nf1	malignant tumors	The development of traditional homozygous knockout mice has provided insights into the roles of the NF1 and NF2 genes during development and in differentiation, but has been less instructive regarding the contribution of NF1 and NF2 dysfunction to the pat	12082543	Mouse
nf1	tumors	Recent progress employing novel mouse targeting strategies has begun to illuminate the roles of the NF1 and NF2 gene products in the molecular pathogenesis of NF-associated tumors.	12082543	Mouse
nf1	transitional cell carcinomas	Kinetic profiles by topographic compartments in muscle-invasive transitional cell carcinomas of the bladder: role of TP53 and NF1 genes.	12109862	Human
nf1	neurofibromatosis type 1	Some hereditary phaeochromocytomas may be associated with germline mutations in VHL, RET and NF1 genes in genetic disorders such as von Hippel-Lindau disease (VHL), multiple endocrine neoplasia type 2 (MEN 2) and neurofibromatosis type 1 (NF 1), respectiv	12111639	Human
nf1	tumor	Unexpectedly, the loss of one allele of NF1 did not greatly shorten the time to tumor formation in a p19(ARF) null background.	12118376	Mouse
nf1	neurofibroma	Deletion of both copies of the Nf1 gene in Schwann cells combined with Nf1 heterozygosity in the tumor environment promotes neurofibroma formation in mice.	12124168	Mouse
nf1	spindle cell neoplasms	Differential NF1, p16, and EGFR patterns by interphase cytogenetics (FISH) in malignant peripheral nerve sheath tumor (MPNST) and morphologically similar spindle cell neoplasms.	12152785	Human
nf1	sarcomas	NF1 losses were encountered more frequently in MPNSTs versus other sarcomas (p < 0.001), as were p16 homozygous deletions (45% vs 0%; p < 0.001), EGFR amplifications (26% vs 0%; p = 0.006), and polysomies for either chromosomes 7 (53% vs 12%; p = 0.003) o	12152785	Human
nf1	malignant tumors	The human disease neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene, and is characterized by the formation of benign and malignant tumors of the peripheral nervous system.	12154062	Human
nf1	mouse tumor	One recent approach taken to investigate the changes associated with NF1 tumor formation is the development of the Nf1:p53 mouse tumor model.	12154062	Mouse
nf1	tumor	One recent approach taken to investigate the changes associated with NF1 tumor formation is the development of the Nf1:p53 mouse tumor model.	12154062	Mouse
nf1	tumors	Thus, Ahi-1 may play an important role in signal transduction in normal cells and may be involved in tumor development, possibly in cooperation with other oncogenes (such as v-abl and c-myc) or with a tumor suppressor gene (Nf1), since Ahi-1 insertion sit	12186888	Human
nf1	tumor	Thus, Ahi-1 may play an important role in signal transduction in normal cells and may be involved in tumor development, possibly in cooperation with other oncogenes (such as v-abl and c-myc) or with a tumor suppressor gene (Nf1), since Ahi-1 insertion sit	12186888	Human
nf1	carcinomas	Analysis of chromosome 17 DNA markers in the five family members tested show that three individuals affected by both NF1 and carcinomas share a common haplotype including the NF1 and BRCA1 loci on chromosome 17.	12217765	Human
neurofibromin	neurofibromatosis type 1	The likely source for increased p21-ras activity in sporadically occurring astrocytomas is overexpressed or constitutively activated growth factor receptors, whereas in neurofibromatosis Type 1 (NF1)-associated astrocytomas, the source is a loss of expres	12296648	Human
neurofibromin	malignant peripheral-nerve-sheath tumors	The second type of tumor associated with aberrant G protein signaling includes sporadic and NF1-associated neurofibromas and malignant peripheral nerve sheath tumors, which also have increased p21-ras activity due to a loss of neurofibromin expression.	12296648	Human
neurofibromin	tumor	The second type of tumor associated with aberrant G protein signaling includes sporadic and NF1-associated neurofibromas and malignant peripheral nerve sheath tumors, which also have increased p21-ras activity due to a loss of neurofibromin expression.	12296648	Human
neurofibromin	neurofibromatosis	The motor protein kinesin-1 links neurofibromin and merlin in a common cellular pathway of neurofibromatosis.	12191989	Human
neurofibromin	malignant tumors	Mutations in either of the two tumor suppressor genes NF1 (neurofibromin) and NF2 (merlin) result in Neurofibromatosis, a condition predisposing individuals to developing a variety of benign and malignant tumors of the central and peripheral nervous syste	12191989	Human
nf1	malignant tumors	Mutations in either of the two tumor suppressor genes NF1 (neurofibromin) and NF2 (merlin) result in Neurofibromatosis, a condition predisposing individuals to developing a variety of benign and malignant tumors of the central and peripheral nervous syste	12191989	Human
neurofibromin	neurofibromatosis	Mutations in either of the two tumor suppressor genes NF1 (neurofibromin) and NF2 (merlin) result in Neurofibromatosis, a condition predisposing individuals to developing a variety of benign and malignant tumors of the central and peripheral nervous syste	12191989	Human
nf1	neurofibromatosis	Mutations in either of the two tumor suppressor genes NF1 (neurofibromin) and NF2 (merlin) result in Neurofibromatosis, a condition predisposing individuals to developing a variety of benign and malignant tumors of the central and peripheral nervous syste	12191989	Human
nf1	tumor	Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas.	12387455	Human
nf1	tumor	Several lines of evidence support the notion that the NF1 gene functions as tumor suppressor in these pilocytic astrocytomas and therefore it is tempting to hypothesize that the NF1 gene plays a similar role in sporadic pilocytic astrocytomas.	12387455	Human
nf1	neurofibromatosis 1	Neurofibromatosis 1 is a progressive autosomal dominant condition caused by mutations in the NF1 gene on chromosome 17.	12403553	Human
neurofibromin	neurofibromatosis 1	Individuals with neurofibromatosis 1 present with abnormalities of both astrocytes and neurons that result from reduced or absent expression of the NF1 gene product neurofibromin.	12403558	Human
nf1	neurofibromatosis 1	Individuals with neurofibromatosis 1 present with abnormalities of both astrocytes and neurons that result from reduced or absent expression of the NF1 gene product neurofibromin.	12403558	Human
nf1	hyperplasia	Loss of Nf1 in T cells results in enhanced Ras activation, which is associated with thymic and splenic hyperplasia, and an increase in the absolute number of immature and mature T-cell subsets compared with control mice.	12393709	Mouse
nf1	tumors	Mice hemizygous for Nf1 mutations show enhanced pigmentation after nerve lesion and occasionally form pigmented and unpigmented tumors.	12427839	Mouse
neurofibromin	tumour	The gene products neurofibromin and merlin (schwannomin), respectively, are thought to act as tumour suppressors.	12447105	Human
nf1	tumor	The TSC1, TSC2, and NF1 genes function as tumor suppressor genes and have other functions that are being investigated.	12616676	Human
nf1	cancer	This suggests that PGD is a useful approach for avoiding the birth of children with inherited cancer predisposition, determined by NF1 and NF2 gene mutations.	12709270	Human
neurofibromin	neurofibroma	Western blot analysis failed to detect full-length neurofibromin in any of the neurofibroma SC cultures, indicating that neurofibromin-deficient SCs had a substantial growth advantage.	11159187	Human
neurofibromin	tumor	Neurofibromin, a tumor suppressor in the nervous system.	11237520	Human
nf1	tumors	Loss of the tumor suppressor gene NF1 in neurofibromatosis type 1 (NF1) contributes to the development of a variety of tumors, including malignant peripheral nerve sheath tumors (MPNST) and benign neurofibromas.	11244508	Human
nf1	malignant peripheral-nerve-sheath tumors (mpnst)	Loss of the tumor suppressor gene NF1 in neurofibromatosis type 1 (NF1) contributes to the development of a variety of tumors, including malignant peripheral nerve sheath tumors (MPNST) and benign neurofibromas.	11244508	Human
nf1	nervous system tumors	MK was induced in human neurofibromas, schwannomas, and various nervous system tumors associated with NF1 or NF2; midkine showed an expression pattern overlapping but distinct from its homolog pleiotrophin (PTN).	11244508	Human
nf1	tumor	Significant progress in our understanding of the genetics and biology of NF1 and NF2 has elucidated the roles of these genes in tumor initiation and progression.	11257108	Human
nf1	tumor	Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1.	11279521	Mouse
nf1	tumors	Previous studies indicated that mice homozygous for a null mutation in Nf1 exhibit mid-gestation lethality, whereas heterozygous mice have an increased predisposition to tumors and learning impairments.	11279521	Mouse
nf1	tumor	Here we show that mice lacking the alternatively spliced exon 23a, which modifies the GTPase-activating protein (GAP) domain of Nf1, are viable and physically normal, and do not have an increased tumor predisposition, but show specific learning impairment	11279521	Mouse
nf1	tumor	The NF1 and NF2 genes function as tumor suppressor genes (negative growth regulators), such that their loss of expression predisposes to tumor formation.	11286939	Human
neurofibromin	neurofibromatosis 1	BACKGROUND: Individuals affected with neurofibromatosis 1 (NF1) develop juvenile pilocytic astrocytomas (JPA) at an increased frequency, suggesting that the NF1 gene product, neurofibromin, functions as a negative growth regulator for astrocytes.	11294925	Human
neurofibromin	neurofibromatosis type 1	The neurofibromatosis type 1 (NF1) tumor suppressor (neurofibromin) is thought to play crucial roles in cellular Ras- and cAMP-dependent kinase (PKA)-associated signals.	11297733	Human
nf1	jmml	RAS, NF1, and PTPN11 mutations are largely mutually exclusive in JMML, which suggests that mutant SHP-2 proteins deregulate myeloid growth through Ras.	14644997	Human
neurofibromin	neurofibromatosis 1	The gene causing neurofibromatosis 1 had been recognized and the protein encoded by this gene, neurofibromin, was supposed to play a role in development of various tissues.	11359370	Human
neurofibromin	neurofibromatosis type 1	Here we show that expression of neurofibromin GRD, but not the p120GAP GRD, restores normal growth and cytokine signaling in three lineages of primary Nf1-deficient cells that have been implicated in the pathogenesis of neurofibromatosis type 1 (NF1).	11080503	Mouse
nf1	neurofibromatosis type 1	Here we show that expression of neurofibromin GRD, but not the p120GAP GRD, restores normal growth and cytokine signaling in three lineages of primary Nf1-deficient cells that have been implicated in the pathogenesis of neurofibromatosis type 1 (NF1).	11080503	Mouse
nf1	murine leukemia	We describe how Nf1 mutant mice provide one example in which disrupting a tumor suppressor gene has been used to generate an informative murine leukemia model.	11407944	Mouse
nf1	tumors	The large size of the NF1 gene together with the multicellular composition of these tumors has greatly hampered their molecular characterization.	11409870	Human
nf1	neurofibromatosis	Mutations in the NF1 tumor suppressor gene cause neurofibromatosis type I (NF1), a disease characterized by the formation of cutaneous neurofibromas infiltrated with a high density of degranulating mast cells.	11435472	Human
nf1	malignant peripheral-nerve-sheath tumors	NF1 deletions in S-100 protein-positive and negative cells of sporadic and neurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors.	11438454	Human
nf1	neurofibromatosis type 1	Using a dual-color fluorescence in situ hybridization and immunohistochemistry technique, we studied NF1 gene status in S-100 protein-positive and -negative cell subpopulations in archival paraffin-embedded specimens from seven PNs, two atypical PNs, one	11438454	Human
nf1	tumors	Our results suggest that the Schwann cell is the primary neoplastic component in PNs and that S-100 protein-negative cells in MPNST represent dedifferentiated Schwann cells, which harbor NF1 deletions in both NF1-associated and sporadic tumors.	11438454	Human
nf1	malignant peripheral-nerve-sheath tumors	Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors.	14517963	Human
nf1	neurofibromatosis 1	Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors.	14517963	Human
nf1	neurofibromatosis type 1	Recent evidence has been provided that links duplicons (REP-P and REP-M) in 17q11.2 flanking the neurofibromatosis type 1 (NF1) gene to the breakpoints of the NF1 microdeletion syndrome.	11479735	Human
nf1	neurofibromatosis type 1	Homologous recombination between poorly characterized regions flanking the NF1 locus causes the constitutional loss of approximately 1.5 Mb from 17q11.2 covering > or =11 genes in 5%-20% of patients with neurofibromatosis type 1 (NF1).	11468690	Human
neurofibromin	neurofibroma	Since patients with the NF1 large-deletion syndrome have a significantly increased risk of neurofibroma development and mental retardation, hemizygosity for genes from the deleted region around the neurofibromin locus (CYTOR4, FLJ12735, FLJ22729, HSA27219	11468690	Human
nf1	neurofibroma	Since patients with the NF1 large-deletion syndrome have a significantly increased risk of neurofibroma development and mental retardation, hemizygosity for genes from the deleted region around the neurofibromin locus (CYTOR4, FLJ12735, FLJ22729, HSA27219	11468690	Human
nf1	c-cell hyperplasia	C-cell hyperplasia foci were microdissected for DNA extraction to analyze the methylation pattern of androgen receptor alleles and microsatellite regions (TP53, RB1, WT1, and NF1).	11502837	Human
nf1	type 1 neurofibromatosis	We show that growth of the perineurial glia is controlled by interactions among five genes: ine, which encodes a putative neurotransmitter transporter; eag, which encodes a potassium channel; push, which encodes a large, Zn(2+)-finger-containing protein;	11517334	Human
nf1	acute myeloid leukemia	Retroviral integration at the Epi1 locus cooperates with Nf1 gene loss in the progression to acute myeloid leukemia.	11533205	Human
nf1	jmml	As it is known that children with neurofibromatosis type 1 syndrome have a markedly increased risk of developing JMML, we have previously developed a mouse model of JMML through reconstitution of lethally irradiated mice with hematopoietic stem cells homo	11533205	Mouse
nf1	neurofibromatosis type 1	As it is known that children with neurofibromatosis type 1 syndrome have a markedly increased risk of developing JMML, we have previously developed a mouse model of JMML through reconstitution of lethally irradiated mice with hematopoietic stem cells homo	11533205	Mouse
nf1	juvenile myelomonocytic leukemia	The NF1 tumor-suppressor gene is frequently inactivated in juvenile myelomonocytic leukemia, and Nf1 mutant mice model this myeloproliferative disorder (MPD).	11544276	Mouse
nf1	tumors	Among the 11 NF1-associated tumors with NF1 loss, 5 had also lost alleles on 17p.	11556548	Human
nf1	tumor	The high rate of NF1 allele loss in NF1-associated pilocytic astrocytomas suggests a tumor initiating or promoting action of the NF1 gene in these patients.	11556548	Human
neurofibromin	human breast cancer	Human breast cancer MDA-MB-231 cells fail to express the neurofibromin protein, lack its type I mRNA isoform and show accumulation of P-MAPK and activated Ras.	11566491	Human
neurofibromin	tumor	Neurofibromin is a tumor suppressor protein, which is similar in function to the GTPase activating protein (GAP), p120GAP, in that it accelerates inactivation of Ras.	11566491	Human
nf1	neurofibromatosis type 1	Mutations in the NF1 gene cause neurofibromatosis type 1, NF1, an autosomal dominant disease with a diverse spectrum of clinical manifestations, including neurofibromas.	11566491	Human
neurofibromin	human breast cancer	Strikingly, neurofibromin was nearly absent in MB-231 human breast cancer cells and present in the remaining four cell lines studied, with higher levels in BT-474 and MB-453 than in MCF-7 and BT-20 cells, as tested with polyclonal antibodies to both the N	11566491	Human
nf1	breast cancer	This result documents for the first time an altered NF1 expression at the protein and mRNA levels in MDA-MB-231 breast cancer cells.	11566491	Human
neurofibromin	neurofibromatosis	PKA phosphorylation and 14-3-3 interaction regulate the function of neurofibromatosis type I tumor suppressor, neurofibromin.	14741381	Human
neurofibromin	tumor	Neurofibromin, a neurofibromatosis type I (NF1) tumor suppressor gene product, has a domain acting as a GTPase activating protein and functions in part as a negative regulator of Ras.	14741381	Human
neurofibromin	neurofibromatosis	Neurofibromin, a neurofibromatosis type I (NF1) tumor suppressor gene product, has a domain acting as a GTPase activating protein and functions in part as a negative regulator of Ras.	14741381	Human
nf1	malignant tumors	Mutations in the neurofibromatosis type 1 (NF1) tumor suppressor gene predispose individuals to a variety of benign and malignant tumors.	14988005	Human
nf1	cervical cancers	RESULTS: Comparison of the two groups revealed that isolates from cervical cancers predominantly carry changes in sequences of YY1 binding sites (especially at nucleotide 7519), while variants from asymptomatic carriers contained nucleotide changes within	11595585	Human
nf1	neurofibromatosis 1	Differential localization of the neurofibromatosis 1 (NF1) gene product, neurofibromin, with the F-actin or microtubule cytoskeleton during differentiation of telencephalic neurons.	11675125	Human
neurofibromin	neurofibromatosis 1	The protein product of the neurofibromatosis 1 gene, neurofibromin, is abundantly expressed in the cerebral cortex during development, but its physiological role remains unknown.	11675125	Human
nf1	spinal neurofibromatosis	Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene.	11704931	Human
nf1	tumors	This demonstrates that typical NF1 null mutations can result in a phenotype that is distinct from classical NF1, showing only a small spectrum of the NF1 symptoms, such as multiple spinal tumors, but not completely fitting the current clinical criteria fo	11704931	Human
nf1	anal malignant melanoma	Allelic loss of the NF1 gene in anal malignant melanoma in a patient with neurofibromatosis type 1.	11706558	Human
nf1	neurofibromatosis type 1	Allelic loss of the NF1 gene in anal malignant melanoma in a patient with neurofibromatosis type 1.	11706558	Human
nf1	tumor	Genetic analysis of the resected tumor confirmed loss of heterozygosity (LOH) of the NF1 gene.	11706558	Human
nf1	malignant melanoma	The allelic loss detected in the present patient supports the previously raised idea that NF1 can function as a tumor suppressor gene in the development of malignant melanoma in patients with NF1.	11706558	Human
nf1	tumor	The allelic loss detected in the present patient supports the previously raised idea that NF1 can function as a tumor suppressor gene in the development of malignant melanoma in patients with NF1.	11706558	Human
neurofibromin	von recklinghausen disease	The NF1 (neurofibromatosis type 1, or von Recklinghausen disease) gene, is a tumor-suppressor gene, and its product, neurofibromin, down-regulates ras protein by its guanosine triphosphatase-activating protein (GAP)-related domain.	11727265	Human
neurofibromin	neurofibromatosis type 1	The NF1 (neurofibromatosis type 1, or von Recklinghausen disease) gene, is a tumor-suppressor gene, and its product, neurofibromin, down-regulates ras protein by its guanosine triphosphatase-activating protein (GAP)-related domain.	11727265	Human
nf1	neurofibromatosis type 1	Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.	11735023	Human
nf1	tumors	Tumors are believed to arise by the loss of function of the NF1 protein, suggesting that NF1 behaves as a tumor suppressor gene.	11898512	Human
nf1	tumor	Tumors are believed to arise by the loss of function of the NF1 protein, suggesting that NF1 behaves as a tumor suppressor gene.	11898512	Human
nf1	neurofibromatosis type 1	Neurofibromatosis type 1 patients with a submicroscopic deletion spanning the NF1 tumor suppressor gene are remarkable for an early age at onset of cutaneous neurofibromas, suggesting the deletion of an additional locus that potentiates neurofibromagenesi	10587576	Human
nf1	tumors	Therefore, in addition to the germline rearrangements reported here, NF1REP-mediated somatic recombination could be an important mechanism for the loss of heterozygosity at NF1 in tumors of NF1 patients.	10587576	Human
nf1	von recklinghausen disease	Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2.	10625171	Human
nf1	neurofibromatosis 1	Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2.	10625171	Human
nf1	leukemias	Consistent with Knudson's "two hit" model of tumor suppressor genes, leukemias and malignant solid tumors in NF1 patients frequently demonstrate somatic loss of the normal NF1 allele.	10620616	Human
nf1	solid tumors	Consistent with Knudson's "two hit" model of tumor suppressor genes, leukemias and malignant solid tumors in NF1 patients frequently demonstrate somatic loss of the normal NF1 allele.	10620616	Human
nf1	neurofibromatosis	Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene-were investigated by use of a two-step FISH approach to characte	10631140	Human
nf1	tumour	Genetic and biochemical data support the hypothesis that NF1 acts as a tumour suppressor gene.	10633134	Human
nf1	tumours	We have studied 82 tumours from 45 NF1 patients.	10633134	Human
nf1	tumour	First, evidence of loss of heterozygosity (LOH) of the NF1 gene region was investigated, and, second, a screen for the presence of sequence alterations was conducted on a large panel of DNA derived from matched blood/tumour pairs.	10633134	Human
nf1	plexiform neurofibroma	In a plexiform neurofibroma from an NF1 patient, mutations in both NF1 alleles have been characterised.	10633134	Human
nf-1	tumour	Our study also provides the first data on molecular alterations [polymerase chain reaction/loss of heterozygosity (LOH) analysis] of the APC, NF-1, DCC, p53, nm23-H1 and BRCA-1 genes in the two components of the collision tumour.	10664249	Human
nf1	juvenile myelomonocytic leukemias	The NF1 tumor suppressor gene encodes a guanosine triphosphotase (GTPase)-activating protein that negatively regulates Ras signaling and is inactivated in a subset of juvenile myelomonocytic leukemias (JMMLs).	14982883	Human
nf1	jmml	Adoptive transfer of fetal liver cells from Nf1 mutant mice models JMML; however, this system has important limitations as a platform for performing biologic and preclinical studies.	14982883	Mouse
neurofibromin	neurofibromatosis type 1	We aimed to identify protein binding regions of the long and highly conserved 3'UTR of the mRNA coding for neurofibromin, a well-known tumor suppressor protein, whose genetic deficiency causes the autosomal dominant disease neurofibromatosis type 1 (	10673359	Human
neurofibromin	tumor	We aimed to identify protein binding regions of the long and highly conserved 3'UTR of the mRNA coding for neurofibromin, a well-known tumor suppressor protein, whose genetic deficiency causes the autosomal dominant disease neurofibromatosis type 1 (	10673359	Human
nf1	neurofibromatosis type 1	Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.	10677298	Human
nf1	neurofibromatosis type 1	Neurofibromatosis type 1 (NF1), a common autosomal dominant disorder caused by mutations of the NF1 gene, is characterized by multiple neurofibromas, pigmentation anomalies, and a variety of other possible complications, including an increased risk of mal	10677298	Human
nf1	tumors	Our results suggest that small subtle mutations occur with similar frequency to that of LOH in benign neurofibromas and that somatic inactivation of the NF1 gene is a general event in these tumors.	10677298	Human
nf1	tumour	In addition to being involved in tumour formation, NF1 has been reported to cause learning defects in humans and Nf1 knockout mice.	10706287	Human
nf1	neurofibromatosis type 1	A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient.	10721668	Human
nf1	neurofibromatosis type 1	Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in all ethnic groups.	10721668	Human
nf1	malignant schwannoma	Additionally, the recurrent 4 bp deletion was found as a second hit in a malignant schwannoma of a further NF1 patient, suggesting that microlesions may be as frequent among somatic as among germline mutations.	10726756	Human
nf1	neurofibromatosis type 1	The characteristic lesions of moyamoya disease are occasionally seen in neurofibromatosis type 1, of which the causative gene (NF1) has been assigned to chromosome 17q11.2.	10754001	Human
neurofibromin	peripheral nerve tumors	The NF1 gene product, neurofibromin, is hypothesized to function as a tumor suppressor and nearly all NF1 patients develop benign peripheral nerve tumors.	10767330	Human
nf1	peripheral nerve tumors	The NF1 gene product, neurofibromin, is hypothesized to function as a tumor suppressor and nearly all NF1 patients develop benign peripheral nerve tumors.	10767330	Human
neurofibromin	tumor	The NF1 gene product, neurofibromin, is hypothesized to function as a tumor suppressor and nearly all NF1 patients develop benign peripheral nerve tumors.	10767330	Human
nf1	tumor	The NF1 gene product, neurofibromin, is hypothesized to function as a tumor suppressor and nearly all NF1 patients develop benign peripheral nerve tumors.	10767330	Human
nf1	neurofibroma	Our findings further indicate that additional molecular events aside from NF1 inactivation in Schwann cells and/or other neural crest derivatives contribute to neurofibroma formation.	10767330	Human
nf1	neurofibromatosis	In addition, the mother's and maternal grandmother's genetic analysis showed identical mutations in the neurofibromatosis I gene on the long arm of chromosome 17, confirming the diagnosis of NF1.	10787042	Human
nf1	neurofibromatosis type 1	A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features.	14564162	Human
nf1	tumor	It has been shown that the NF1 (neurofibromatosis type 1) gene encodes a tumor suppressor which inactivates ras proteins.	10812008	Human
nf1	neurofibromatosis	Large deletions of the NF1 locus occur in 5 to 10% of patients with neurofibromatosis and are commonly associated with specific additional abnormalities characterized by mental retardation, dysmorphic features, and intellectual impairment.	10843809	Human
nf1	papilloma	The neurofibromatosis type 1 (Nf1) tumor suppressor is a modifier of carcinogen-induced pigmentation and papilloma formation in C57BL/6 mice.	10844550	Mouse
nf1	skin cancer	To test if NF1 can play a part in skin tumor formation, we analyzed effects of the skin cancer initiator dimethylbenz-anthracene and/or the tumor promoter 12-O-tetradecanoyl-13-acetylphorbol on mice heterozygous for null mutations in Nf1 (Nf1+/-).	10844550	Mouse
nf1	tumor	To test if NF1 can play a part in skin tumor formation, we analyzed effects of the skin cancer initiator dimethylbenz-anthracene and/or the tumor promoter 12-O-tetradecanoyl-13-acetylphorbol on mice heterozygous for null mutations in Nf1 (Nf1+/-).	10844550	Mouse
neurofibromin	papillomas	All papillomas analyzed (six of six) had mutations in codon 61 of H-ras, demonstrating strong cooperation between the Nf1 GTPase activating protein for Ras, neurofibromin, and Ras-GTP.	10844550	Mouse
nf1	papillomas	All papillomas analyzed (six of six) had mutations in codon 61 of H-ras, demonstrating strong cooperation between the Nf1 GTPase activating protein for Ras, neurofibromin, and Ras-GTP.	10844550	Mouse
nf1	tumor	The NF1 gene, on chromosome segment 17q11.2, encodes a protein that has tumor suppressor function.	10862051	Human
nf1	tumor	Our chromosome 17 LOH analysis in a cohort of three tumor types was positive for NF1 allele loss in 2/15 (13%) dermal neurofibromas, 4/10 (40%) plexiform neurofibromas, and 3/5 (60%) MPNSTs.	10862051	Human
nf1	segmental neurofibromatosis	Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene.	10878667	Human
nf1	neurofibromatosis	Genetic abnormalities of familial pheochromocytomas have elucidated oncogenic genetic bases of the tumor, including gene abnormalities of the RET proto-oncogene in multiple endocrine neoplasia type 2, VHL gene in von Hippel Lindau's disease or the NF	10915008	Human
nf1	optic nerve glioma	Optic nerve glioma in mice requires astrocyte Nf1 gene inactivation and Nf1 brain heterozygosity.	14695164	Mouse
nf1	tumors	This mouse model demonstrates that Nf1+/- cells contribute to the pathogenesis of gliomas in NF1 and provides a tool for the preclinical evaluation of potential therapeutic interventions for these tumors.	14695164	Mouse
nf1	tumors	Ninety-one tumors from 31 NF1 patients were screened for gross changes in the NF1 gene using microsatellite/restriction fragment length polymorphism (RFLP) markers; loss of heterozygosity (LOH) was found in 17 out of 91 (19%) tumors (including two out of	14722917	Human
nf1	tumors	Denaturing high performance liquid chromatography (DHPLC) was then used to screen 43 LOH-negative and 10 LOH-positive tumors for NF1 microlesions at both RNA and DNA levels.	14722917	Human
nf1	tumor	The TSC1, TSC2, and NF1 genes function as tumor suppressor genes and have other functions that are being investigated.	14743661	Human
nf1	tumour	The critical role of the neurofibromatosis 1 (NF1) gene as a tumour suppressor has been clearly demonstrated for malignancies arising in NF1 patients.	10931370	Human
neurofibromin	tumours	All eight tumours demonstrated loss of neurofibromin expression by immunohistochemistry, which was confirmed in one case using Western blot analysis.	10931370	Human
nf1	tumours	Microsatellite analysis showed loss of a single NF1 allele (LOH) in two of four NF1-associated tumours.	10931370	Human
nf1	neurofibromatosis	Humans with mutations in NF1 develop neurofibromatosis type I (NF1) and have increased risk of optic gliomas, astrocytomas and glioblastomas.	10973261	Human
nf1	juvenile myelomonocytic leukemia (jmml)	Children with neurofibromatosis type 1 (NF1) carry germline mutations in one allele of the NF1 gene and are predisposed to myeloid malignancies, particularly juvenile myelomonocytic leukemia (JMML).	10979983	Human
nf1	t-cell lymphoma	Flow cytometric cell sorting techniques to isolate the malignant cell populations and molecular genetic methods to assay for somatic loss of the normal NF1 allele were used to study an unusual child with NF1 and JMML who subsequently had T-cell lymphoma.	10979983	Human
nf1	lymphoma	The data show that malignant JMML and lymphoma cells share a common loss of genetic material involving the normal NF1 gene and approximately 50 Mb of flanking sequence, suggesting that the abnormal T-lymphoid and myeloid populations were derived from a co	10979983	Human
nf1	jmml	The data show that malignant JMML and lymphoma cells share a common loss of genetic material involving the normal NF1 gene and approximately 50 Mb of flanking sequence, suggesting that the abnormal T-lymphoid and myeloid populations were derived from a co	10979983	Human
nf1	neurofibromatosis	We studied the NF1 gene in 93 unrelated patients with neurofibromatosis type1, focusing the analysis on four exons that contain the highest number of possible mutations occurring at CpG sites.	10980545	NA
neurofibromin	astrocytoma	Loss of neurofibromin is associated with activation of RAS/MAPK and PI3-K/AKT signaling in a neurofibromatosis 1 astrocytoma.	11005256	Human
neurofibromin	tumor	Neurofibromin, the protein product of the NF1 gene, functions as a tumor suppressor, largely by inhibiting Ras activity.	11005256	Human
nf1	tumor	Neurofibromin, the protein product of the NF1 gene, functions as a tumor suppressor, largely by inhibiting Ras activity.	11005256	Human
neurofibromin	tumors	While loss of neurofibromin has been implicated in the molecular pathogenesis of other NF1-associated tumors, there is no formal evidence demonstrating loss of neurofibromin function in NF1-associated astrocytomas.	11005256	Human
neurofibromin	tumor	Loss of neurofibromin expression was observed in the tumor and was associated with elevated levels of Ras-GTP.	11005256	Human
neurofibromin	tumor	The NF1 gene encodes neurofibromin, a tumor suppressor postulated to function in part as a Ras GTPase-activating protein.	10900196	Human
nf1	tumor	The NF1 gene encodes neurofibromin, a tumor suppressor postulated to function in part as a Ras GTPase-activating protein.	10900196	Human
neurofibromin	neurofibroma	Our results indicate that Ras activity is detectably increased in only some neurofibroma Schwann cells and suggest that neurofibromin is not an essential regulator of Ras activity in fibroblasts.	10900196	Mouse
nf1	neurofibromatosis type 1	Identification of two novel frame shift mutations of the NF1 gene in Korean patients with neurofibromatosis type 1.	11068991	Human
nf1	hepatocellular carcinomas	Furthermore, gel-shift analyses performed with nuclear factors prepared from well-differentiated hepatocellular carcinomas showed increased HNF3/NF1 binding activity compared with normal livers.	11093745	Human
nf1	tumors	We cultured pure populations of SCs and fibroblasts derived from 10 neurofibromas with characterized NF1 mutations and found that SCs but not fibroblasts harbored a somatic mutation at the NF1 locus in all studied tumors.	11115850	Human
nf1	neurofibroma	These data strongly support the idea that NF1 mutations in SCs, but not in fibroblasts, correlate to neurofibroma formation and demonstrate that only a portion of SCs in neurofibromas have mutations in both NF1 alleles.	11115850	Human
nf1	desmoplastic neurotropic melanoma	Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma.	11129335	Human
nf1	nerve sheath tumours	Mutations of the tumour-suppressor gene NF1 (neurofibromatosis 1) have been observed in neurofibromas and neurofibrosarcomas of patients with von Recklinghausen's disease and in sporadic nerve sheath tumours.	11129335	Human
nf1	melanoma	In contrast, melanoma, another tumour type of neuroectodermal origin, rarely shows NF1 alterations.	11129335	Human
nf1	familial cancer syndromes	Ten % of these tumors are associated with the familial cancer syndromes multiple endocrine neoplasia type 2, von Hippel-Lindau disease (VHL), and rarely, neurofibromatosis type 1, in which germ-line mutations have been identified in RET, VHL, and NF1, res	11156410	Human
nf1	tumours	We analysed 20 neurofibromas and three neurofibrosarcomas, but did not find evidence for microsatellite instability or NF1 promoter methylation in any of the tumours.	11175282	NA
nf1	malignant peripheral-nerve-sheath tumors	We have analyzed 98.5% of the coding region of the NF1 gene at the cDNA level in seven NF1 patients who developed malignant peripheral nerve sheath tumors.	10534774	NA
nf1	metastatic adenocarcinoma	We describe the ultrasound, CT and barium findings in a patient with NF1 who had a huge benign plexiform neurofibroma of the ileum that was infiltrated with metastatic adenocarcinoma.	10560344	Human
nf1	familial cancer syndrome	Neurofibromatosis type 1 (NF1) is a prevalent familial cancer syndrome resulting from germ line mutations in the NF1 tumor suppressor gene.	10591652	Human
nf1	soft-tissue sarcomas	One hundred percent of mice harboring null Nf1 and p53 alleles in cis synergize to develop soft tissue sarcomas between 3 and 7 months of age.	10591653	Mouse
nf1	soft-tissue sarcoma	Editing and hyperediting of apo B, NAT1 or NF1 mRNA was not identified in any of 28 resected tumor specimens, including hepatocellular, bile duct, gastric, colorectal, pancreatic adeno- and neuroendocrine, lung adeno-, medullary thyroid and breast carcino	10597235	Human
nf1	breast carcinoma	Editing and hyperediting of apo B, NAT1 or NF1 mRNA was not identified in any of 28 resected tumor specimens, including hepatocellular, bile duct, gastric, colorectal, pancreatic adeno- and neuroendocrine, lung adeno-, medullary thyroid and breast carcino	10597235	Human
nf1	epithelial ovarian tumors	Differential expression of NF1 type I and type II isoforms in sporadic borderline and invasive epithelial ovarian tumors.	9926941	Human
nf1	neuroectodermal tumor	Two forms of the NF1 GRD transcript (Type I and Type II) are differentially expressed in neuroectodermal tumor tissue relative to differentiated neural cells, and in gastric cancer cell lines relative to normal stomach mucosa.	9926941	Human
nf1	gastric cancer	Two forms of the NF1 GRD transcript (Type I and Type II) are differentially expressed in neuroectodermal tumor tissue relative to differentiated neural cells, and in gastric cancer cell lines relative to normal stomach mucosa.	9926941	Human
nf1	ovarian malignancies	We propose that differential expression of the NF1 Type I and Type II isoforms is related to cellular differentiation in ovarian epithelial cancer and strategies based on alteration in NF1 isoform expression may have therapeutic potential in ovarian malig	9926941	Human
nf1	ovarian epithelial cancer	We propose that differential expression of the NF1 Type I and Type II isoforms is related to cellular differentiation in ovarian epithelial cancer and strategies based on alteration in NF1 isoform expression may have therapeutic potential in ovarian malig	9926941	Human
nf1	cancer-predisposing syndrome	BACKGROUND: Neurofibromatosis Type 1 (NF1) is an autosomal dominant transmitted cancer predisposing syndrome, with peripheral nerve tumors being a prominent feature.	10029430	Human
nf-1	hematologic malignancies	Although an increased risk of hematologic malignancies in children with Neurofibromatosis-1 (NF-1) is well established, whether adults with NF-1 have an increased risk of such malignancies is unclear.	10048435	Human
nf-1	secondary myelodysplastic syndromes	We currently describe two adult patients with NF-1 who rapidly developed secondary myelodysplastic syndromes with abnormalities of chromosome 7 following chemotherapy for AML.	10048435	Human
nf1	xanthomas	We suggest that the presence of xanthomas and NF1 in a young child should raise awareness of the possible development of JCML, especially in patients with a family history of NF1.	10063210	Human
nf-1	arachnoid cysts	In NF-1 patients with FPN there seems to be a high incidence of intracranial tumors and possibly of arachnoid cysts.	2518508	Human
nf-1	angiomas	We present data about skin Morgan angiomas in the general US white population and a cohort of patients with NF-1 and their unaffected relatives.	3152460	Human
nf-1	angiomas	Among patients with NF-1, angiomas were significantly more common, but not so among unaffected relatives.	3152460	Human
nf1	second malignancy	Half of the NF1 patients with p53-positive MPNSTs developed recurrence or metastases or developed a second malignancy within 2 years of diagnosis, whereas patients with p53-positive sporadic MPNSTs were free of disease 1 to 7 years later.	10347283	Human
nf1	soft-tissue tumors	However, the incidence of cervical soft tissue tumors and the value of screening MR for children with NF1 are not known.	10382213	Human
nf1	malignant gliomas	However, the MIB-1 LIs increased to 15.2% and 18% in two patients with NF1 who developed highly malignant gliomas 6 and 6.5 years after irradiation.	10421072	Human
nf1	malignant triton tumor	To determine the role of the NF1 and p53 genes in the development of the malignant Triton tumor we examined 2 such tumors, 1 from a 3-year-old boy without clinical manifestations of NF1 and another from a 24-year-old man with NF1.	10452514	Human
nf1	intracranial neoplasms	Optic pathway gliomas and brainstem gliomas are the predominant intracranial neoplasms associated with neurofibromatosis type 1 (NF1).	10469435	Human
nf1	soft-tissue sarcoma	Molecular analysis was performed by reverse transcription (RT) polymerase chain reaction (PCR) on tumor RNA to seek the chimerical transcript of the most common soft tissue sarcoma translocations and analyze neurofibromatosis 1 (NF1) gene expression.	10524458	Human
nf1	atypical meningioma	A 9-year-old girl with neurofibromatosis type 1 (NF1) presented with a massive atypical meningioma and calvarial defect.	12719945	Human
nf1	atypical meningioma	To our knowledge, this is the first case of NF1 associated with atypical meningioma and massive calvarial defect in a child.	12719945	Human
nf1	jcml	We studied 8 Japanese JCML patients without NF1 for mutations in exons 21-36 of the NF1 gene by using polymerase chain reaction/single-strand conformation polymorphism analysis.	9691142	NA
nf1	colon carcinoma	Mutations involving the GRD region of the NF1 gene (GRD-NF1) have been described in a variety of tumors such as colon carcinoma and astrocytoma.	9783802	Human
neurofibromin	traumatic neuromas	In the present study we investigated the expression of the ERBB2 protein and neurofibromin in human benign and malignant Schwann cell tumors, traumatic neuromas and peripheral nerves without pathological findings.	9824645	Human
neurofibromin	traumatic neuromas	Low levels of neurofibromin were detectable in normal nerves but not in traumatic neuromas or tumors.	9824645	Human
nf1	chronic myelomonocytic leukemia	The transient thrombocythemia may relate to a regulator of megakaryocytopoiesis located in the vicinity of the NF1 gene or to the excessive risk of chronic myelomonocytic leukemia in neurofibromatosis.	9042140	Human
nf1	hematologic malignancies	BACKGROUND: Children with neurofibromatosis type 1 (NF1) are at increased risk of developing benign and malignant solid tumors as well as hematologic malignancies, including de novo juvenile chronic myelogenous leukemia, monosomy 7 syndrome, and acute mye	9083167	Human
nf1	hematologic malignancies	The normal NF1 allele is frequently deleted in the bone marrow cells from NF1 patients with hematologic malignancies, suggesting a pathogenic role in primary leukemogenesis.	9083167	Human
nf1	primary malignancies	The risk of an SMN was approximately 11% among the 64 NF1 registrants with primary malignancies in the CHOP registry, but was 75% (6 of 8) among patients treated for a pediatric embryonal cancer.	9083167	Human
nf1	plexiform neurofibroma	Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene.	9177273	Human
nf1	plexiform neurofibroma	In this plexiform neurofibroma of a NF1 patient with a constitutional one base-pair insertion in NF1 exon 4b, a non-random X-inactivation pattern was found, strongly suggesting a clonal origin of the tumor cells.	9177273	Human
nf1	intracranial neoplasms	The association of optic glioma and other intracranial neoplasms in patients with NF1 suggests that there are fundamental pathophysiological differences between patients with and without optic glioma.	9208416	Human
nf1	recurrent tumors	LOH was observed in 11/19 (58%) instances with frequent involvement of TP53, NF1, and D17S795 loci, LOH at D17S578 and D17S520 occurred in recurrent tumors exclusively.	9266149	Human
nf1	chronic myeloid leukaemia	Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia.	8563750	Human
nf1	jcml	For example, activating point mutations in RAS genes are found in some patients with juvenile chronic myelogenous leukaemia (JCML), while other patients with JCML show loss of the neurofibromatosis type 1 (NF1) gene, a Ras GTPase activating protein.	8563750	Human
nf1	jcml	By generating mice whose haematopoietic system is reconsituted with Nf1 deficient haematopoietic stem cells we show that Nf1 gene loss, by itself, is sufficient to produce the myeloproliferative symptoms associated with human JCML.	8563750	Mouse
neurofibromin	jcml	These data define a specific role for neurofibromin in negatively regulating GM-CSF signaling through Ras in haematopoietic cells and they suggest that hypersensitivity to GM-CSF may be a primary event in the development of JCML.	8563751	Human
nf1	hepatoma	In vitro editing and transfection assays demonstrated that apoB and NF1 RNA editing will take place in both neural tumor and hepatoma cells.	8602361	Human
nf1	familial neurofibromatosis	In familial neurofibromatosis type 1 (NF1), individuals with a germ line-transmitted NF1 mutation develop multiple neurofibromas.	8627811	Human
nf1	neurofibromatosis type 1	We studied the prevalence of myopia in 17-year-old Israeli military recruits with neurofibromatosis type 1 (NF1).	8641867	NA
nf1	brainstem tumors	The appropriate management of brainstem tumors in patients with neurofibromatosis 1 (NF1) has been problematic because the natural history of these lesions remains poorly defined.	8649565	Human
nf1	human colon cancer	Suppression of a human colon cancer cell line by introduction of an exogenous NF1 gene.	8665528	Human
nf1	embryonal carcinoma	We studied the combined role of cAMP and NF1 in regulating the expression of the JCV early promoter-enhancer (JCVE) in differentiating glial and muscle P19 embryonal carcinoma cells.	8818965	NA
nf-1	pleomorphic xanthoastrocytoma	The authors report a case of pleomorphic xanthoastrocytoma (PXA) with neurofibromatosis type 1 (NF-1).	8916131	Human
nf-1	diffuse neurofibroma	PURPOSE: To report a case of a primary corneal diffuse neurofibroma in a patient with von Recklinghausen disease (NF-1).	12502951	Human
nf1	extracolonic cancer	These children exhibited a constitutional genetic instability associated with clinical features of de novo neurofibromatosis type 1 (NF1) and early onset of extracolonic cancer.	12522551	Human
nf1	acute leukemia	Our results support the theory that JMML may derive from pluripotential cells and that the occurrence of monosomy of chromosome 7 within a clone of cells having an aberrant neurofibromatosis type 1 (NF1) gene may be the cause of JMML and acute leukemia.	12531231	Human
nf1	malignant blue nevus	We performed a molecular analysis for loss of heterozygosity on microdissected samples from the spectrum of benign to malignant blue nevus, using a panel of eight genes (MTS1, MXI1, CMM1, p53, NF1, L-myc hOGG1, and MCC), many of which are commonly associa	12544095	Human
nf-1	malignant fibrous histiocytoma	A 48-year-old man with the nonfamilial form of neurofibromatosis type 1 (NF-1) developed a malignant fibrous histiocytoma in the deep soft tissue of the calf.	7887787	Human
nf-1	cutaneous malignant melanoma	However, it is still controversial whether cutaneous malignant melanoma is more prevalent in NF-1 patients.	7887787	Human
nf-1	malignant fibrous histiocytoma	Anorectal melanoma and malignant fibrous histiocytoma are exceedingly rare in NF-1.	7887787	Human
nf1	aplasia	Aplasia of second inferior molars is an additional (dental) finding associated with plexiform neurofibromata in NF1.	12553919	Human
nf1	breast and ovarian cancer	Nonsense or frameshift mutations, which result in a truncated gene product, are prevalent in a variety of disease-related genes, including APC (implicated in colorectal cancer), BRCA1 and BRCA2 (breast and ovarian cancer), PKD1 (polycystic kidney disease)	12524552	Human
nf1	colorectal cancer	Nonsense or frameshift mutations, which result in a truncated gene product, are prevalent in a variety of disease-related genes, including APC (implicated in colorectal cancer), BRCA1 and BRCA2 (breast and ovarian cancer), PKD1 (polycystic kidney disease)	12524552	Human
nf1	chronic myelomonocytic leukemia	Exon trap analysis of a NF1 splice-site mutation in a chronic myelomonocytic leukemia patient.	7769857	Human
nf1	chronic myelomonocytic leukemia	We have previously described a patient with chronic myelomonocytic leukemia who exhibited a mutation (del-10:-8) in the splice-acceptor region in front of the FLR exon of the NF1 tumor suppressor gene.	7769857	Human
nf1	acute leukemia	We examined NF1 in 50 patients with MDS including 9 who had progressed to more advanced stages and 16 to acute leukemia.	7599322	Human
neurofibromin	soft tissue tumours	Reduced expression of neurofibromin in the soft tissue tumours obtained from patients with neurofibromatosis type I. 1.	7614817	Human
neurofibromin	fibrolipoma	3. Western blot analysis demonstrated deficiency of neurofibromin in the tumours derived from three out of the four neurofibromatosis type 1 patients: a fibrolipoma, a malignant schwannoma and a neurofibroma.	7614817	Human
neurofibromin	hyperplasia	We conclude that neurofibromin functions as a major regulator of Ras-GTP in Schwann cells; however, mutation in NF1 by itself is unlikely to explain the hyperplasia observed in Schwann cell tumors in NF1 disease.	7624147	Human
nf1	hyperplasia	We conclude that neurofibromin functions as a major regulator of Ras-GTP in Schwann cells; however, mutation in NF1 by itself is unlikely to explain the hyperplasia observed in Schwann cell tumors in NF1 disease.	7624147	Human
neurofibromin	squamous-cell carcinomas	Further studies concentrated on neurofibromin expression in basal cell and squamous cell carcinomas.	7637322	Human
neurofibromin	epidermal cancers	Furthermore, aberrations in neurofibromin expression may play a role in the pathogenesis of epidermal cancers.	7637322	Human
nf1	encephalocraniocutaneous lipomatosis	Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.	7643367	Human
nf1	eccl	In this report, a child is described with ECCL and a de novo nonsense mutation in exon 29 (S1745X) of the neurofibromatosis type 1 (NF1) gene.	7643367	Human
nf1	eccl	Although it is possible that both ECCL and NF1 occur coincidentally in this patient, we favour the hypothesis that in exceptional cases a mutation in the NF1 gene might give rise to severe congenital malformations such as ECCL.	7643367	Human
nf1	brainstem tumors	Brainstem tumors in NF1 have been confused clinically with non-NF1 brainstem tumors and radiographically with the increased T2 signal abnormalities, also known as "unidentified bright objects" (UBOs), which are common in NF1 and often located in	7477989	Human
nf1	brainstem tumor	Seven NF1 patients (41%) required shunt placement for hydrocephalus at initial diagnosis, more frequent than in non-NF1 brainstem tumor patients.	7477989	Human
nf-1	intracranial germinoma	Intracranial germinoma associated with neurofibromatosis 1 (NF-1) has never been documented previously.	7585682	Human
nf-1	germinoma	We report a case of familial NF-1 with a germinoma involving the right basal ganglion and thalamus.	7585682	Human
nf-1	intracranial germinoma	Although this finding of an intracranial germinoma in a patient with familial NF-1 may be coincident, it is suggestive of a potential genetic predisposition.	7585682	Human
nf-1	germ-cell tumor	Longitudinal evaluation for the possibility of neoplasm, especially germ cell tumor, in basal ganglion lesions in NF-1 patients is necessary.	7585682	Human
nf1	men 2b	Exons 10 and 11 were studied in genomic DNAs from 3 clinically apparent sporadic MTCs, MTCs and pheochromocytomas from 2 patients with MEN 2A, 1 with FMTC, 4 with MEN 2B, 3 with neurofibromatosis type 1 (NF1), 12 sporadic pheochromocytomas and an MTC cell	8556059	Human
nf1	mycosis fungoides	We describe a patient with NF1 and mycosis fungoides.	12889711	Human
vrnf	cysts	The contrast studies in our patients, especially the computed tomographic myelography (CTM), suggest that the meningocoeles in vRNF are, in fact, abnormally dilated and elongated nerve root sleeves and should, therefore, be distinguished from other types	2125803	Human
nf-1	leiomyoma	This report describes a case of solitary leiomyoma occurring in a 49 year old woman with NF-1.	12944559	Human
nf-1	leiomyoma	Leiomyoma must be considered in the differential diagnosis of spindle cell neoplasms in patients with NF-1.	12944559	Human
nf-1	spindle cell neoplasms	Leiomyoma must be considered in the differential diagnosis of spindle cell neoplasms in patients with NF-1.	12944559	Human
neurofibromin	uveal melanomas	METHODS: Thirty-eight uveal melanomas, as well as normal uveal melanocytes, were examined for NF1 deletions by dual-color fluorescence in situ hybridization, and for expression of the NF1 protein (neurofibromin) by immunohistochemistry and Western blot an	12963615	Human
nf1	uveal melanomas	METHODS: Thirty-eight uveal melanomas, as well as normal uveal melanocytes, were examined for NF1 deletions by dual-color fluorescence in situ hybridization, and for expression of the NF1 protein (neurofibromin) by immunohistochemistry and Western blot an	12963615	Human
nf1	tumor syndrome	The common region of deletions on the short arm of chromosome 17 is, therefore, clearly distinct from the gene causing von Recklinghausen neurofibromatosis (NF1), a tumor syndrome associated with glial tumors that maps to the long arm of chromosome 17.	2571151	Human
nf1	familial cancer syndromes	A marked bias for a paternal origin of new mutations has been reported in other familial cancer syndromes such as neurofibromatosis type 1 (NF1), multiple endocrine neoplasia (MEN) 2B and bilateral retinoblastoma, but it is unclear whether this bias resul	8589692	Human
nf1	bilateral retinoblastoma	A marked bias for a paternal origin of new mutations has been reported in other familial cancer syndromes such as neurofibromatosis type 1 (NF1), multiple endocrine neoplasia (MEN) 2B and bilateral retinoblastoma, but it is unclear whether this bias resul	8589692	Human
nf1	malignant gliomas	METHODS. A series of intragenic sequence polymorphisms was used to investigate lymphocyte and tumor DNA samples from 22 adults with high grade malignant gliomas for loss of heterozygosity (LOH) at NF1.	8625164	Human
nf1	ependymoma	Clear evidence for somatic mutation events at the NF1 gene locus was found in 1 astrocytoma, 2 glioblastomas, 1 ependymoma and 1 PNET with an astrocytic component.	8669813	Human
nf1	renal cancer	Examples include the RB1 gene for retinoblastoma; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tu	8741802	Human
nf1	breast and ovarian cancer	Examples include the RB1 gene for retinoblastoma; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tu	8741802	Human
nf1	common cancers	Examples include the RB1 gene for retinoblastoma; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tu	8741802	Human
nf1	non-hodgkin lymphoma	Of particular interest are two cases in which both NF1 and malignant peripheral nerve sheath tumors were present in multiple successive generations: a patient with colon cancer and non-Hodgkin lymphoma who has a constitutional abnormality of the p53 gene,	8259105	Human
nf1	colon cancer	Of particular interest are two cases in which both NF1 and malignant peripheral nerve sheath tumors were present in multiple successive generations: a patient with colon cancer and non-Hodgkin lymphoma who has a constitutional abnormality of the p53 gene,	8259105	Human
neurofibromin	wilms tumor	Although ENU-induced melanoma and Wilms' tumor were negative for neurofibromin, foci of Schwannian differentiation in both primary and transplanted melanomas were positive.	8129040	Human
nf1	chronic myelogenous leukemia	Analysis of mutations and expression of GAP-related domain of the neurofibromatosis type 1 (NF1) gene in the progression of chronic myelogenous leukemia.	8207976	Human
nf1	ovarian carcinoma	Mutation analysis of RASK and the 'FLR exon' of NF1 in sporadic ovarian carcinoma.	8018414	Human
nf1	colorectal cancer	Frequency of allele loss of DCC, p53, RBI, WT1, NF1, NM23 and APC/MCC in colorectal cancer assayed by fluorescent multiplex polymerase chain reaction.	7947085	Human
nf-1	non-hodgkin lymphoma	We carried out the first detailed population-based study of leukaemia and non-Hodgkin lymphoma (NHL) associated with NF-1 in order to estimate the risk and elucidate the relationship between these conditions.	7947106	Human
nf1	hereditary cancer syndrome	Neurofibromatosis type 1 (NF1) is a hereditary cancer syndrome, characterized by cafe-au-lait skin spots and multiple neurofibromas.	7811291	Human
nf1	malignant glioma	Functional and structural abnormalities of the neurofibromatosis 1 (NF1) gene and overexpression of the epidermal growth factor receptor have been associated with expression of the malignant glioma phenotype.	8494908	Human
nf1	t-cell acute lymphoblastic leukemia	In her 8 1/2 years of life, a girl with neurofibromatosis type 1 (NF1) developed four sequential primary malignant neoplasms: Wilms tumor, T-cell acute lymphoblastic leukemia, medulloblastoma and acute myeloid leukemia.	8388972	Human
nf1	melanoma	Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras.	8516298	Human
neurofibromin	schwannoma	In schwannoma cell lines from patients with neurofibromatosis, loss of neurofibromin was previously shown to be associated with impaired regulation of GTP-Ras.	8516298	Human
nf1	melanoma	Our analysis of other neural crest-derived tumor cell lines has shown that some melanoma and neuroblastoma cell lines established from tumors occurring in patients without neurofibromatosis contain reduced or undetectable levels of neurofibromin, with con	8516298	Human
neurofibromin	melanoma	Our analysis of other neural crest-derived tumor cell lines has shown that some melanoma and neuroblastoma cell lines established from tumors occurring in patients without neurofibromatosis contain reduced or undetectable levels of neurofibromin, with con	8516298	Human
neurofibromin	melanoma	In contrast to the schwannoma cell lines, GTP-Ras was appropriately regulated in the melanoma and neuroblastoma lines that were deficient in neurofibromin, even when c-H-ras was overexpressed in the lines.	8516298	Human
neurofibromin	schwannoma	In contrast to the schwannoma cell lines, GTP-Ras was appropriately regulated in the melanoma and neuroblastoma lines that were deficient in neurofibromin, even when c-H-ras was overexpressed in the lines.	8516298	Human
nf1	malignant gliomas	Low frequency of NF1 gene mutations in malignant gliomas.	8518039	Human
nf1	optic-pathway glioma	A retrospective review of the medical records was undertaken in order to assess the relationship between optic pathway glioma, neurofibromatosis type 1 (NF1), radiation therapy, and moyamoya disease.	8315466	Human
nf1	optic-pathway glioma	The high incidence of moyamoya disease (three of five cases, or 60%) in patients with NF1 who have undergone radiotherapy suggests a synergistic relationship that should be considered when formulating a treatment plan for NF1 patients with optic pathway g	8315466	Human
nf1	acoustic neuroma	CONCLUSIONS: This study has demonstrated that (1) chromosome 22 allele loss is a frequent event in sporadic acoustic neuroma; (2) the minimal region of loss of heterozygosity in acoustic neuroma includes the NF2 gene; (3) the known tumor suppressor genes	8217082	Human
nf1	anaplastic astrocytoma	We describe an amino acid substitution in the NF1 GRD, altering Lys-1423, that has occurred in three tumor types: colon adenocarcinoma, myelodysplastic syndrome, and anaplastic astrocytoma, and in one family with neurofibromatosis 1.	1568247	Human
nf1	colon adenocarcinoma	We describe an amino acid substitution in the NF1 GRD, altering Lys-1423, that has occurred in three tumor types: colon adenocarcinoma, myelodysplastic syndrome, and anaplastic astrocytoma, and in one family with neurofibromatosis 1.	1568247	Human
nf1	neurofibromatosis type 1	Defects in the NF1 gene have been implicated in the inherited disorder neurofibromatosis type 1, which is characterized by several developmental abnormalities including an increased frequency of benign and malignant tumours of neural crest origin (neurofi	1570015	Human
nf1	human gastric cancer	To understand the molecular mechanism of gastric tumorigenesis, the status of neurofibromatosis type 1 (NF1) gene was analyzed in human gastric cancer cell lines.	1520317	Human
nf1	gastric cancer	Although the sequencing of the GTPase activating protein (GAP)-related region of NF1 (NF1-GRD) revealed no apparent mutation, the NF1-GRD transcript (type I) and that containing an additional 63 bp insert in the center of NF1-GRD (type II) were equally ex	1520317	Human
nf1	ovarian cysts	In addition, we found that women with NF1 were more likely to have reproductive histories suggestive of hypogonadism, including irregular menses, infertility, ovarian cysts, and early menopause.	1908637	Human
nf1	giant-cell granuloma	Neurofibromatosis 1: a novel NF1 mutation in an 11-year-old girl with a giant cell granuloma.	12822827	Human
nf1	nevoid-basal-cell-carcinoma syndrome	Relative macrocephaly (an OFC greater than the 95th centile for height) was seen in seven of nine probands with the nevoid basal cell carcinoma syndrome (NBCC), eight of 32 non-probands with NBCC, three of four neurofibromatosis type 1 (NF1) probands, and	1910262	Human
nf1	schwannoma	NF1 was present in a large molecular mass complex in fibroblast and Schwannoma cell lines and appears to associate with a very large (400-500 kDa) protein in both cell types.	1946460	Human
nf-1	li-fraumeni cancer	Overall, heredity played a role in the etiology of CBT in 4% of the study families: four (1.7%) due to known hereditary syndromes (nevoid basal cell carcinoma syndrome and von Recklinghausens neurofibromatosis--NF-1), four (1.7%) with multifactorial inher	1756948	Human
nf-1	nevoid-basal-cell-carcinoma syndrome	Overall, heredity played a role in the etiology of CBT in 4% of the study families: four (1.7%) due to known hereditary syndromes (nevoid basal cell carcinoma syndrome and von Recklinghausens neurofibromatosis--NF-1), four (1.7%) with multifactorial inher	1756948	Human
nf1	mds	METHODS: In this study, bone marrow specimens that were obtained from previously untreated patients with AML and MDS were examined for ras mutations, and the levels of NF1 protein expression were measured.	12518368	Human
nf-1	nonossifying fibroma	We report a case of LDD coexisting with neurofibromatosis type 1 (NF-1) and non-ossifying fibroma.	15841746	Human
nf1	tumors of the central nervous system	Clinically, NF1 is characterized by café-au-lait spots, freckling, skin neurofibroma, plexiform neurofibroma, bony defects, Lisch nodules and tumors of the central nervous system.	17351482	Human
nf1	xanthogranuloma	Xanthogranuloma (XG) is rarely observed in adults and has been reported to be associated with chronic myelogenous leukaemia (CML) and/or neurofibromatosis type 1 (NF1).	17373983	Human
nf1	chronic myelogenous leukaemia (cml)	Xanthogranuloma (XG) is rarely observed in adults and has been reported to be associated with chronic myelogenous leukaemia (CML) and/or neurofibromatosis type 1 (NF1).	17373983	Human
nf-1	alveolar rhabdomyosarcoma	We present a 2(1/2)-year-old boy with NF-1 who demonstrated coexisting optic pathway glioma with involvement of the chiasm and optic nerve, orbital alveolar rhabdomyosarcoma and bilateral optic nerve sheath dural ectasia.	16941184	Human
nf-1	optic tract glioma	[A follow-up of patients with anterior optic tract glioma concurrent with type 1 neurofibromatosis] Fifty-nine patients with anterior optic tract (AOT) lesion concurrent with type neurofibromatosis (NF-1) were followed up for 1 to 36 years (median 5 years	17217202	Human
nf-1	neuroendocrine tumors	This chapter reviews the molecular biology of neuroendocrine tumors, including the roles of MENIN, TSC2, NF-1, vHL, p53, bcl-2, bax, VEGF, IGF, PDGF, EGFR, and mTOR.	17382271	Human
nf1	common cancer	Neurofibromatosis type 1 (NF1) is the most common cancer predisposition syndrome affecting the nervous system, with elevated risk for both astrocytoma and peripheral nerve sheath tumors.	17216419	Human
nf 1	necrosis	RESULTS: Diagnosis based on localized proton spectroscopy included brainstem glioma, brainstem encephalitis, demyelination, dysmyelination secondary to neurofibromatosis type 1 (NF 1), and possible infection or radiation necrosis.	16983570	Human
nf 1	brainstem glioma	RESULTS: Diagnosis based on localized proton spectroscopy included brainstem glioma, brainstem encephalitis, demyelination, dysmyelination secondary to neurofibromatosis type 1 (NF 1), and possible infection or radiation necrosis.	16983570	Human
nf1	familial cancer syndrome	Case report. Neurofibromatosis type 1 (NF1) is the most common familial cancer-predisposing syndrome in humans, for which the gene (NF1) and its gene product (neurofibromin) have been identified.	8622163	Human
neurofibromin	familial cancer syndrome	Case report. Neurofibromatosis type 1 (NF1) is the most common familial cancer-predisposing syndrome in humans, for which the gene (NF1) and its gene product (neurofibromin) have been identified.	8622163	Human
nf1	juvenile myeloid leukemia	BACKGROUND. Patients with neurofibromatosis type 1 (NF1) are at increased risk for developing malignant neural crest tumors and juvenile myeloid leukemia.	8625164	Human
nf1	soft-tissue sarcomas	BACKGROUND: Patients affected by neurofibromatosis type 1 (NF1) are at higher risk of developing soft-tissue sarcomas (STS) than the general population.	17330850	Human
nf1	intracranial tumours	A long-term follow-up. AIM: Optic pathway gliomas (OPG) are the predominant intracranial tumours associated with neurofibromatosis type 1 (NF1).	17301720	Human
nf1	medulloblastoma	In her 8 1/2 years of life, a girl with neurofibromatosis type 1 (NF1) developed four sequential primary malignant neoplasms: Wilms tumor, T-cell acute lymphoblastic leukemia, medulloblastoma and acute myeloid leukemia.	8388972	Human
nf1	pediatric cancer	Thirty-two cases of neurofibromatosis Type I (NF1) were identified among 6,678 pediatric cancer patients treated at St.	8259105	Human
nf1	skin tumors	Bovine cutaneous neurofibromatosis is a naturally occurring disease in this group of animals, characterized by skin tumors morphologically identical to those of NF1.	7977647	Cow
nf1	colorectal tumours	A number of known or putative tumour-suppressor genes including NF1, BRCA1, NME1, NME2 and prohibitin are present on the long arm of chromosome 17, and this region has not been extensively analysed in colorectal tumours.	7734302	Human
nf1	childhood brain tumors	Analysis of the GAP-related domain of the neurofibromatosis type 1 (NF1) gene in childhood brain tumors.	7657385	Human
nf1	neural tumor	In vitro editing and transfection assays demonstrated that apoB and NF1 RNA editing will take place in both neural tumor and hepatoma cells.	8602361	Human
nf1	high grade tumors	To determine whether loss of NF1 expression is associated with progression towards malignancy in sporadic astrocytomas from individuals without NF1, twenty-eight fresh astrocytoma operative specimens (low and high grade tumors) and seven primary human ast	8668337	Human
nf1	hereditary breast and ovarian cancer	Examples include the RB1 gene for retinoblastoma; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tu	8741802	Human
nf1	visual pathway gliomas	PURPOSE: The authors emphasize the potential for the development of anterior visual pathway gliomas, evidenced by computed tomography (CT) or magnetic resonance imaging (MRI) scans, in neurofibromatosis type 1 (NF1) patients who previously had normal neur	9186431	Human
nf1	intracranial tumors	The incidence of tumor complications, particularly plexiform neurofibromas and intracranial tumors, among this group of patients is higher than the observed incidence in our NF1 population, suggesting that NF1 haploinsufficiency may cause a more severe ph	9187663	Human
nf1	brain stem tumours	We describe the clinical and imaging findings of brain stem tumours in patients with neurofibromatosis type 1 (NF1).	9335063	Human
nf1	brain stem tumour	The NF1 patients imaged between January 1984 and January 1996 were reviewed and 25 patients were identified with a brain stem tumour.	9335063	Human
nf1	brain stem tumour	Brain stem tumour identification occurred much later than the clinical diagnosis of NF1.	9335063	Human
nf1	brain stem tumours	The biological behaviour of brain stem tumours in NF1 is unknown.	9335063	Human
nf1	thoracic tumors	Thoracic tumors have been infrequently reported as a complication of neurofibromatosis-1 (NF1).	9342207	Human
nf1	thoracic tumors	To determine the prevalence and clinical features of thoracic tumors seen in children with NF1, we reviewed medical records and imaging studies for a group of 260 pediatric patients with NF1 followed in a multidisciplinary NF Center.	9342207	Human
nf1	thoracic tumors	Extrapleural thoracic tumors were seen in nine patients with NF1, corresponding to a prevalence of 3.5% in this hospital-based series of patients.	9342207	Human
nf1	thoracic tumors	We conclude that NF1 patients presenting with any of these signs and symptoms should be screened for thoracic tumors with chest X-ray and magnetic resonance imaging as needed.	9342207	Human
nf1	skin tumor	To test if NF1 can play a part in skin tumor formation, we analyzed effects of the skin cancer initiator dimethylbenz-anthracene and/or the tumor promoter 12-O-tetradecanoyl-13-acetylphorbol on mice heterozygous for null mutations in Nf1 (Nf1+/-).	10844550	Human
nf1	cancer predisposition syndrome	Neurofibromatosis 1 (NF1) is a common autosomal dominant cancer predisposition syndrome, in which 15% to 20% of affected individuals develop astrocytomas.	11005256	Human
nf1	cervical tumors	PURPOSE: The purposes of this study were to determine the incidence and clinical significance of cervical tumors seen on MR imaging in children with NF1.	10382213	Human
nf1	cervical tumors	CONCLUSION: Cervical tumors are commonly seen in children with NF1.	10382213	Human
nf1	brainstem gliomas	Optic pathway gliomas and brainstem gliomas are the predominant intracranial neoplasms associated with neurofibromatosis type 1 (NF1).	10469435	Human
nf1	spinal tumours	In neurofibromatosis type 1 (NF1) spinal tumours cause neurological symptoms in about 2 % of patients.	10525761	Human
nf1	spinal tumours	Among over 1400 patients with NF1 we saw symptomatic spinal tumours in 23 (1.6 %).	10525761	Human
nf1	spinal tumours	In patients who do not satisfy the NIH criteria, it can be a helpful observation that spinal tumours in NF1 are primarily intraforaminal, extending into the spinal canal, while in NF2 they are mostly intraspinal intradural tumours.	10525761	Human
nf1	spinal tumors	Three patients have multiple spinal tumors and no café-au-lait macules, and the fourth has no clinical signs of NF1.	11704931	Human
nf1	spinal tumors	This demonstrates that typical NF1 null mutations can result in a phenotype that is distinct from classical NF1, showing only a small spectrum of the NF1 symptoms, such as multiple spinal tumors, but not completely fitting the current clinical criteria fo	11704931	Human
nf1	malignant nervous system tumors	Neurofibromatosis type 1 (NF1) is a dominant genetic disorder characterized by multiple benign and malignant nervous system tumors, and by learning defects in 45% of children with NF1 mutations.	11788835	Human
nf1	neural tumor	Composite tumor of pheochromocytoma and neuroblastoma, or ganglioneuroma, or ganglioneuroblastoma (composite pheochromocytoma), also known as mixed neuroendocrine and neural tumor, are sometimes combined with neurofibromatosis type 1 (NF1).	11904334	Human
nf1	cns tumors	We advocate yearly clinical and neuroradiological follow-up over a long period in NF1 children, since they may develop additional CNS tumors during their lifetime.	11935243	Human
nf1	familial cancers	The requirement for a permissive haploinsufficient environment to allow tumorigenesis may have therapeutic implications for NF1 and other familial cancers.	11988578	Human
nf1	cns tumour	Only optic glioma cases with NF1 were at risk of developing a second CNS tumour.	12089128	Human
nf1	transitional cell carcinomas of the bladder	Kinetic profiles by topographic compartments in muscle-invasive transitional cell carcinomas of the bladder: role of TP53 and NF1 genes.	12109862	Human
nf1	malignant tumors of the peripheral nervous system	The human disease neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene, and is characterized by the formation of benign and malignant tumors of the peripheral nervous system.	12154062	Human
nf1	cns tumours	Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): a retrospective study of 104 patients.	12477702	Human
nf1	cns tumours	In addition to multiple peripheral neurofibromas, Neurofibromatosis 1 (NF1) predisposes to CNS tumours.	12477702	Human
nf1	cns tumour	Inclusion criteria were a diagnosis of NF1, according to the National Institutes of Health criteria, and the presence of a CNS tumour, regardless of type, location or age of onset.	12477702	Human
nf1	aml	METHODS: In this study, bone marrow specimens that were obtained from previously untreated patients with AML and MDS were examined for ras mutations, and the levels of NF1 protein expression were measured.	12518368	Human
nf1	pulmonary sarcoma	Pulmonary sarcoma complicated with neurofibromatosis type 1 (NF1).	12680156	Human
nf1	disseminated neuroblastoma	Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastoma.	12687660	Human
nf1	disseminated neuroblastoma	In the present study we describe a child with NF1 and disseminated neuroblastoma whose death resulted from disease progression.	12687660	Human
nf1	neural tumors	The hallmark of NF1 is development of neural tumors.	12828709	Human
nf1	visual pathway gliomas	We believe that patients with anterior visual pathway gliomas, particularly those with NF1, should not be treated unless there is clear clinical or neuroimaging evidence of progression.	12849878	Human
nf1	benign schwannomas	Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: s study of 20 cases.	13679444	Human
nf1	gi tumors	Chromosomes 22 and 17, particularly NF2 and NF1 loci, were analyzed for LOH in all GI tumors and for comparative purposes in 10 conventional schwannomas.	13679444	Human
nf1	gist	The whole coding region of the c-kit cDNA and the whole coding region of the NF1 cDNA were amplified and directly sequenced after RNA extraction and cDNA synthesis in three fresh GIST tissues from two NF1 patients and ten fresh GIST tissues from ten non-N	14694524	Human
nf1	optic nerve gliomas	In contrast to astrocyte-restricted Nf1 conditional knockout mice, Nf1+/- mice lacking Nf1 in astrocytes develop optic nerve gliomas.	14695164	Mouse
nf1	intracranial meningioma	Neurofibromatosis type 2 is much less common than neurofibromatosis type 1 (NF1), with a symptomatic prevalence of 1 in 210,000,(2) and, to the authors' knowledge, only six cases of NF2 with multiple plexiform schwannomas have been reported in the li	15117362	Human
nf1	multiple endocrine neoplasia type 2a	Seventeen of these patients, with a hereditary form of the disease, presented with 23 phaeochromocytomas [three neurofibromatosis type 1 (NF1), five von Hippel-Lindau disease (VHL), eight multiple endocrine neoplasia type 2A (MEN2A) and one type 2B (MEN2B	15212651	Human
nf1	cns lymphoma	CONCLUSION: This is the first report of CNS lymphoma in a patient with NF1.	15255115	Human
nf1	pediatric neoplasms	Other genetic constructs in mice involving the genes p53, ptc1, and Nf1 have produced tumors remarkably similar to some of the human pediatric neoplasms.	15313589	Mouse
nf1	astrocytoma	Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects.	15319471	Mouse
nf1	astrocytoma	We have shown previously that mice mutant for Trp53 and Nf1 develop astrocytoma, progressing to glioblastoma, on a C57BL/6J strain background.	15319471	Mouse
nf1	glioblastoma	We have shown previously that mice mutant for Trp53 and Nf1 develop astrocytoma, progressing to glioblastoma, on a C57BL/6J strain background.	15319471	Mouse
nf1	astrocytoma	In contrast, here we present data that mice mutant for Trp53 and Nf1 on a 129S4/SvJae background are highly resistant to developing astrocytoma.	15319471	Mouse
nf1	astrocytoma	Through analysis of F1 progeny, we demonstrate that susceptibility to astrocytoma is linked to chromosome 11, and that the modifier gene(s) responsible for differences in susceptibility is closely linked to Nf1 and Trp53.	15319471	Mouse
nf1	common tumors	Nerve sheath tumors are the most common tumors of Neurofibromatosis type 1 (NF1) patients.	15446580	Human
nf1	juvenile polyp	We report a case that draws attention to a hitherto undescribed association of neurofibromatosis type 1 (NF1) with juvenile polyp, congenital intrahepatic portosystemic venous shunt, multiple subcutaneous lipomas, and horseshoe kidney.	15150783	Human
nf1	lipomas	We report a case that draws attention to a hitherto undescribed association of neurofibromatosis type 1 (NF1) with juvenile polyp, congenital intrahepatic portosystemic venous shunt, multiple subcutaneous lipomas, and horseshoe kidney.	15150783	Human
nf1	nevus	We present a boy fulfilling the diagnostic criteria for NF1 with two unusual lesions: infantile myofibromatosis and a verrucous epidermal nevus.	15459537	Human
nf1	schwannomatosis	Included in this appraisal is a search for a pre-disposition syndrome, the most common of which are neurofibromatosis-1 and -2 (NF1, NF2) and schwannomatosis, which may require life-long careful follow up.	15527099	Human
nf1	giant cell glioblastoma	Heavily lipidized, calcified giant cell glioblastoma in an 8-year-old patient, associated with neurofibromatosis type 1 (NF1): report of a case with long-term survival.	15584213	Human
nf1	giant cell glioblastoma	The coexistence of intracerebral heavily lipidized, calcified giant cell glioblastoma with NF1 has not been previously reported in literature.	15584213	Human
nf1	breast tumor	Loss of heterozygosity (LOH) analyses of the breast tumor revealed LOH in the NF1 region.	15588864	Human
nf1	optic-pathway glioma	Children affected with the inherited tumor predisposition syndrome, neurofibromatosis 1 (NF1), are prone to the development of low-grade astrocytic optic pathway tumors (optic pathway glioma [OPG]).	15622533	Human
nf1	pleomorphic xanthoastrocytoma	The authors report an unusual case of multicentric pleomorphic xanthoastrocytoma (PXA) in a 36-year-old woman with neurofibromatosis Type 1 (NF1).	15739569	Human
nf1	familial cancer syndromes	Phaeochromocytoma is a neural-crest-derived tumour that may be a feature of several familial cancer syndromes including von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN 2), neurofibromatosis type 1 (NF1) and germline succinate deh	15788647	Human
nf1	optic nerve gliomas	This mTOR pathway hyperactivation was reflected by high levels of ribosomal S6 activation in both Nf1 mutant mouse optic nerve gliomas and in human NF1-associated pilocytic astrocytoma tumors.	15805275	Mouse
nf1	pilocytic astrocytoma	This mTOR pathway hyperactivation was reflected by high levels of ribosomal S6 activation in both Nf1 mutant mouse optic nerve gliomas and in human NF1-associated pilocytic astrocytoma tumors.	15805275	Human
nf1	acute leukemia	Repeated Sequences in CASPASE-5 and FANCD2 but not NF1 Are Targets for Mutation in Microsatellite-Unstable Acute Leukemia/Myelodysplastic Syndrome.	15886296	Human
nf1	familial cancer syndrome	Loss-of-function mutations in the NF1 tumor suppressor gene underlie the familial cancer syndrome neurofibromatosis type I (NF1).	15937108	Human
nf1	acute leukemia	Given that the RUNX1 transcription factor is the most common target for chromosomal translocations in acute leukemia, we asked if NF1 might be regulated by RUNX1.	15988004	Human
nf1	sporadic colon cancer	NF1 gene loss of heterozygosity and expression analysis in sporadic colon cancer.	15840687	Human
nf1	sporadic colon cancer	This is the first study to investigate the role of NF1 in sporadic colon cancer.	15840687	Human
nf1	malignant nervous system tumours	Neurofibromatosis type 1 (NF1) is a common genetic condition in which affected individuals develop benign and malignant nervous system tumours.	16069817	Human
nf1	pleomorphic xanthoastrocytoma	We describe a case of cerebellar pleomorphic xanthoastrocytoma (PXA) occurring in a patient with neurofibromatosis type 1 (NF1).	15289955	Human
nf1	malignant astrocytoma	Early inactivation of p53 tumor suppressor gene cooperating with NF1 loss induces malignant astrocytoma.	16098465	Human
the nf1 cdna	gist	The whole coding region of the c-kit cDNA and the whole coding region of the NF1 cDNA were amplified and directly sequenced after RNA extraction and cDNA synthesis in three fresh GIST tissues from two NF1 patients and ten fresh GIST tissues from ten non-N	14694524	Human
the nf1 gene	neurofibromatosis type 1	Defects in the NF1 gene have been implicated in the inherited disorder neurofibromatosis type 1, which is characterized by several developmental abnormalities including an increased frequency of benign and malignant tumours of neural crest origin (neurofi	1570015	Human
the nf1 gene	neuroblastoma	Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras.	8516298	Human
the nf1 gene	melanoma	Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras.	8516298	Human
the nf1 gene	neural tumors	The NF1 gene seems to increase the risk not only for neural tumors but also for some non-neural tumors in an age-specific, organ-dependent pattern of carcinogenesis.	8402499	Human
the nf1 gene	encephalocraniocutaneous lipomatosis	Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.	7643367	Human
the nf1 gene	eccl	Although it is possible that both ECCL and NF1 occur coincidentally in this patient, we favour the hypothesis that in exceptional cases a mutation in the NF1 gene might give rise to severe congenital malformations such as ECCL.	7643367	Human
the nf1 gene	lymphomas	Frequent disruption of the Nf1 gene by a novel murine AIDS virus-related provirus in BXH-2 murine myeloid lymphomas.	7474134	Mouse
the nf1 gene	ependymoma	Clear evidence for somatic mutation events at the NF1 gene locus was found in 1 astrocytoma, 2 glioblastomas, 1 ependymoma and 1 PNET with an astrocytic component.	8669813	Human
the nf1 gene	chronic myelomonocytic leukemia	The transient thrombocythemia may relate to a regulator of megakaryocytopoiesis located in the vicinity of the NF1 gene or to the excessive risk of chronic myelomonocytic leukemia in neurofibromatosis.	9042140	Human
the nf1 gene	plexiform neurofibroma	Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene.	9177273	Human
the nf1 gene	colon carcinoma	Mutations involving the GRD region of the NF1 gene (GRD-NF1) have been described in a variety of tumors such as colon carcinoma and astrocytoma.	9783802	Human
the nf1 gene	anal malignant melanoma	Allelic loss of the NF1 gene in anal malignant melanoma in a patient with neurofibromatosis type 1.	11706558	Human
the nf1 gene	anorectal malignant melanoma	Anorectal malignant melanoma in NF1 is extremely rare, and genetic studies of the NF1 gene in such patients have not been reported.	11706558	Human
the nf1 gene	tumor syndrome	Individuals with the neurofibromatosis 1 (NF1) inherited tumor syndrome develop low-grade gliomas (astrocytomas) at an increased frequency, suggesting that the NF1 gene is a critical growth regulator for astrocytes.	12077339	Human
the nf1 gene	malignant tumors of the peripheral nervous system	The human disease neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene, and is characterized by the formation of benign and malignant tumors of the peripheral nervous system.	12154062	Human
the nf1 gene	colon cancer	CONCLUSIONS: Our findings suggest that the NF1 gene may play a role in the development and progression of colon cancer and the NF1 gene may be a potential tumour marker and a new potential target for colon cancer therapy.	15840687	Human
the nf1 protein	lymphomas	The observed cooperation in in vivo lymphomagenesis between N-ras overexpression and NF1 inactivation emphasizes the importance of searching for additional functions for the NF1 protein and of intensifying the screening for NF1 mutations in human lymphoma	9796699	Human
vrnf	duodenal somatostatinoma	A case of a patient affected by VRNF associated with duodenal somatostatinoma with consequent obstructive jaundice is reported.	15258554	Human
vrnf	duodenal somatostatinoma	A total of 27 patients with Von Recklinghausen's disease associated with immunohistologically proved duodenal somatostatinoma have been identified and compared with 29 duodenal somatostatinoma not associated with VRNF, and with 32 cases of pancreatic	15258554	Human
nf1	facial plexiform neurofibroma	The relation between the size and extension of the orbital, eyelid and facial plexiform neurofibroma and the degree of asymmetry of the hemispheric hyperplasia suggest that different influences of a still unknown agent, possibly a gene, obviously related	16981165	Human
nf1	central giant cell granulomas (cgcgs)	Kerl first reported an association of NF1 with multiple central giant cell granulomas (CGCGs) of the jaws.	17138179	Human
nf1	familial cancer syndrome	Neurofibromatosis (NF) type I (NF1) is the most common familial cancer-predisposing syndrome in humans, while type 2 (NF2) accounts for an extremely small percentage of the total cases of NF.	14692188	Human
nf1	li-fraumeni cancer syndrome	The author reviewed five hereditary neurological tumor syndromes associated with gliomas: Li-Fraumeni cancer syndrome, neurofibromatosis type 1 (NF1) and type 2 (NF2), tuberous sclerosis (TS), and Turcot syndrome.	17168501	Human
nf1	tumor syndromes	The author reviewed five hereditary neurological tumor syndromes associated with gliomas: Li-Fraumeni cancer syndrome, neurofibromatosis type 1 (NF1) and type 2 (NF2), tuberous sclerosis (TS), and Turcot syndrome.	17168501	Human
neurofibromin	adrenal gland tumors	Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I.	7519874	Human
neurofibromin	soft-tissue tumours	Reduced expression of neurofibromin in the soft tissue tumours obtained from patients with neurofibromatosis type I. 1.	7614817	Human
neurofibromin	ependymomas	Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas.	9100669	Human
neurofibromin	ependymomas	All tumors showed staining with an antibody to a C-terminal peptide of neurofibromin, confirming that full-length neurofibromin is present in these vestibular schwannomas, meningiomas, and ependymomas.	9100669	Human
neurofibromin	peripheral primitive neuroectodermal tumour	Contrasting levels of p21ras activation and expression of neurofibromin in peripheral primitive neuroectodermal tumour and neuroblastoma cells, and their response to retinoic acid.	9619634	Human
neurofibromin	ppnet	In pPNET cells levels of type 1 GAP120 but not neurofibromin mRNA were increased to similar levels to those in neuroblastoma cells.	9619634	Human
nf-1	tumors of meninges	NF-1 seems to be associated with tumors of astrocytes and neurons and NF-2 with tumors of meninges and Schwann cells.	2501822	Human
nf-1	acoustic nerve tumors	This patient is one of a few adequately described cases who clinically meets diagnostic criteria for NF-1 and has bilateral acoustic nerve tumors.	2517814	Human
nf-1	visual pathway gliomas	Two patients, a 5-year-old girl and a 3-year-old boy, with documented neurofibromatosis (NF-1) and visual pathway gliomas are reported.	2517816	Human
nf-1	intracranial tumors	In NF-1 patients with FPN there seems to be a high incidence of intracranial tumors and possibly of arachnoid cysts.	2518508	Human
nf-1	cns tumors	Clinical manifestations of NF-1 include: generalized cutaneous neurofibroma, pigmented skin patches (cafe-au-lait spots), pigmented iris hamartoma (Lisch nodules), skeletal abnormally, CNS tumors, etc.	1795416	Human
nf-1	benign tumors	Loss of constitutional heterozygosity has not been reported in the benign tumors associated with NF-1, however, and has only been detected in a few malignant neural-crest tumors and in some tumor-derived cell lines.	8302341	Human
nf-1	cmml	CMML occurred predominantly in boys, who also had a family history of NF-1.	7947106	Human
nf-1	germ cell tumor	Longitudinal evaluation for the possibility of neoplasm, especially germ cell tumor, in basal ganglion lesions in NF-1 patients is necessary.	7585682	Human
nf-1	optic nerve tumors	Both isolated and bilateral optic nerve tumors were found exclusively in children with NF-1, whereas chiasmal (p = 0.016) and optic tract involvement (p = 0.001) were more common in those with non-NF-1 OPT.	7472822	Human
nf-1	intracranial tumors	The goals of this article are to trace the evolution of the concept of NF-2 as a distinct clinical entity from NF-1 and to assess the early awareness of and attitudes toward bilateral ANs, familial ANs, and ANs associated with other intracranial tumors.	8906061	Human
nf-1	spinal cord tumour	We investigated the characteristic features of intramedullary spinal cord tumour associated with neurofibromatosis type 1 (NF-1).	9442220	Human
nf-1	spinal cord tumour	6 cases of NF-1 associated with intramedullary spinal cord tumour based on the above diagnostic criteria have so far been reported, including our 2 cases.	9442220	Human
nf-1	spinal cord tumour	This finding suggested that intramedullary spinal cord tumour associated with NF-1 tends to occur predominantly in males and that histopathologically the tumour is likely to be an astrocytoma.	9442220	Human
nf-1	spinal cord tumour	We conclude that the criteria proposed by the National Institute of Health Consensus Development Conference are contributory in making an accurate pre-operative pathological diagnosis of intramedullary spinal cord tumour associated with NF-1.	9442220	Human
nf-1	stromal tumors	Type-1 neurofibromatosis (NF-1) or Von Recklinghausen disease is an autosomal dominant hereditary condition that may affect the gastrointestinal tract in 25% of cases and which takes three main forms: ganglioneuromatosis, stromal tumors, and tumors in the	10232882	Human
nf-1	stromal tumor	We present the case of a 48-year-old patient diagnosed as having NF-1, with relapsing episodes of gastrointestinal hemorrhage, in which we discovered the simultaneous presence of a stromal tumor in the jejunum together with polypoid and diffuse ganglioneu	10232882	Human
nf-1	skin tumour	FA1 was found in the spindle cells of all (n = 10) skin tumour specimens from adult NF-1 patients, whereas normal dermis was FA1 negative.	10354070	Human
nf-1	stromal tumors	Periampullary tumors in patients affected by Neurofibromatosis Type 1 (NF-1) are usually carcinoids or stromal tumors and, rarely, adenocarcinomas.	11706080	Human
nf-1	medulloblastoma	We review the current literature and suggest that the association of medulloblastoma with NF-1 is not a chance occurrence, and that it might be pathogenically related.	12058604	Human
nf-1	medulloblastoma	We propose that medulloblastoma should be added to the list of malignancies that are apt to occur in NF-1.	12058604	Human
nf-1	retinal tumors	BACKGROUND: Retinal tumors are occasionally seen in patients with neurofibromatosis type-1 (NF-1).	12201346	Human
nf-1	adrenal pheochromocytomas	RESULTS: Adrenal pheochromocytomas were present in 56 of 59 patients (95%): MEN2A (39), MEN2B (7), VHL (6), MEN1 (2), NF-1 (2).	15051000	Human
nf-1	extraadrenal pheochromocytomas	Paragangliomas (extraadrenal pheochromocytomas) were present in the remaining 3 of 59 patients (5%): FP (2) and NF-1 (1).	15051000	Human
nf-1	central nervous system tumours	Von Recklinghausen's disease, now classified as neurofibromatosis type 1 (NF-1), is a relatively frequent autosomal dominant disorder and has clinical manifestations, such as cafe-au-lait spots, freckling, generalised cutaneus neurofibroma, Lisch nod	15635820	Human
nf-1	gastrointestinal tumour	In adults, anaemia in the course of NF-1 is usually due to gastrointestinal tumour bleeding.	15635820	Human
nf-1	epithelioid hemangioendothelioma	Epithelioid hemangioendothelioma and multiple thoraco-lumbar lateral meningoceles: two rare pathological entities in a patient with NF-1.	15688204	Human
nf-1	soft-tissue sarcoma	Neurofibromatosis type I (NF-1) is a genetic syndrome associated with soft tissue sarcoma and higher risk of developing neoplasia.	15688204	Human
nf-1	fibroma	We report a case of LDD coexisting with neurofibromatosis type 1 (NF-1) and non-ossifying fibroma.	15841746	Human
nf-1	hematological malignancies	When eosinophilia is diagnosed in patients with NF-1, eosinophilic end-organ damage, particularly cardiac involvement, in addition to hematological malignancies, should be screened for in order to start medical treatment at the early stage of the disease.	15912309	Human
nf-1	gastrointestinal neoplasms	NF-1 is known to be associated with gastrointestinal neoplasms in 2-25 per cent of patients.	16022006	Human
nf-1	gastrointestinal neoplasms	Patients with NF-1 and GI symptoms are at risk for gastrointestinal neoplasms from which symptomatic patients are likely to experience significant morbidity.	16022006	Human
nf-1	melanocytic nevi	Background: Neurofibromatosis, type 1, is associated with cutaneous melanin pigmentation, but an association with ordinary melanocytic nevi has not been described.	16115049	Human
nf-1	melanocytic nevi	Methods: This retrospective case-control study was designed to see if neurofibromas in patients with neurofibromatosis, type 1 (NF-1) differ from sporadic neurofibromas (SN) in their incidence of associated melanocytic nevi and other histologic features.	16115049	Human
nf-1	melanocytic nevi	Slides from 114 NF-1 were compared with 112 SN and 300 intradermal melanocytic nevi (IDN).	16115049	Human
vrnf	carcinoid	[Multiple duodenal and ampullary carcinoids and von Recklinghausen's neurofibromatosis] A clinical case of multiple duodenal carcinoid involving the ampulla in a woman with von Recklinghausen's neurofibromatosis (VRNF) is described.	3149916	Human
vrnf	somatostatinoma	While many more duodenal carcinoids need to be investigated systematically for their immunocytochemical profile, detection of a pure somatostatinoma in the duodenum should alert one to the possibility of coexistent VRNF.	2422964	Human
neurofibromin	wilms' tumor	Although ENU-induced melanoma and Wilms' tumor were negative for neurofibromin, foci of Schwannian differentiation in both primary and transplanted melanomas were positive.	8129040	Human
nf1	small cell lung carcinoma (sclc)	The incidence of small cell lung carcinoma (SCLC) as a complication of NF1, however, is rare.	8094318	Human
nf1	sclc	To clarify the relationship between NF1 and SCLC, possible loss of heterozygosity of chromosome 17 in a patient with SCLC combined with NF1 was analyzed.	8094318	Human
nf1	sclc	CONCLUSIONS. The formation of SCLC may result from several genetic alterations, including inactivation of tumor-suppressor gene on chromosome 17p, most likely P53, although it still is unknown whether or not a mutation of the NF1 gene on 17q was involved	8094318	Human
nf1	neural tumors	The NF1 gene seems to increase the risk not only for neural tumors but also for some non-neural tumors in an age-specific, organ-dependent pattern of carcinogenesis.	8402499	Human
nf1	malignant melanoma of the choroid	[Malignant melanoma of the choroid associated with neurofibromatosis] A sixteen-year-old white girl with peripheral neurofibromatosis (NF1), who had been treated for a glioma of the optic nerves and chiasma developed a choroidal mass in her only functiona	8496569	Human
nf1	optic tract gliomas	Type 1, NF1 or von Recklinghausen's disease, consists of skin and bone lesions as well as central nervous system tumours arising at the expense of glial tissue: optic tract gliomas, glioblastomas, astrocytomas and "hamartomas".	1300092	Human
nf1	neuroma	Apropos of two cases and review of the literature] We report two cases of trigeminal neuroma in patients with Von Recklinghausen neurofibromatosis (NF1).	1303603	Human
nf1	endocrine tumors	The prevalence of secondary neoplasia and endocrine tumors in NF1 is also discussed.	1649534	Human
nf1	nevoid basal cell carcinoma syndrome	Relative macrocephaly (an OFC greater than the 95th centile for height) was seen in seven of nine probands with the nevoid basal cell carcinoma syndrome (NBCC), eight of 32 non-probands with NBCC, three of four neurofibromatosis type 1 (NF1) probands, and	1910262	Human
nf-1	acoustic neuromas	[Central nervous findings in neurofibromatosis] Neurofibromatosis (NF) is subdivided into at least two different forms: NF-1, which is characterized by café-au-lait spots, cutaneous neurofibromas, Lisch nodules and osseous dysplasias, and NF-2, the hallm	1584968	Human
nf-1	familial adenomatous polyposis	Three other genes associated with the inherited cancer syndromes neurofibromatosis type I (NF-1) and familial adenomatous polyposis have been cloned and partially characterized.	1591284	Human
nf-1	inherited cancer syndromes	Three other genes associated with the inherited cancer syndromes neurofibromatosis type I (NF-1) and familial adenomatous polyposis have been cloned and partially characterized.	1591284	Human
nf1	mpd	Children with NF1 are predisposed to juvenile myelomonocytic leukemia (JMML) and lethally irradiated mice given transplants with homozygous Nf1 mutant (Nf1-/-) hematopoietic stem cells develop a fatal myeloproliferative disorder (MPD) that models JMML.	17090653	Human
nf1	mpd	We investigated the requirement for signaling through the GM-CSF receptor to initiate and sustain this MPD by generating Nf1 mutant hematopoietic cells lacking the common beta chain (Beta c) of the GM-CSF receptor.	17090653	Mouse
nf1	mpd	Mice reconstituted with Nf1-/-, beta c-/- stem cells did not develop evidence of MPD despite the presence of increased number of immature hematopoietic progenitors in the bone marrow.	17090653	Mouse
nf1	mpd	Interestingly, when the Mx1-Cre transgene was used to inactivate a conditional Nf1 mutant allele in hematopoietic cells, concomitant loss of beta c-/- reduced the severity of the MPD, but did not abrogate it.	17090653	Human
nf1	optic pathway glioma	A retrospective review of the medical records was undertaken in order to assess the relationship between optic pathway glioma, neurofibromatosis type 1 (NF1), radiation therapy, and moyamoya disease.	8315466	Human
nf1	optic pathway glioma	The high incidence of moyamoya disease (three of five cases, or 60%) in patients with NF1 who have undergone radiotherapy suggests a synergistic relationship that should be considered when formulating a treatment plan for NF1 patients with optic pathway g	8315466	Human
nf1	acoustic tumors	Other signs of NF1 or NF2, such as cutaneous tumors, Lisch nodules, or acoustic tumors, were absent.	1745350	Human
nf-1	optic pathway tumors	Carboplatin is a promising agent for the treatment of optic pathway tumors in children with NF-1.	8413004	Human
nf-1	juvenile chronic myelomonocytic leukemia	A 9-month-old boy with known familial neurofibromatosis type I (NF-1) presented with a clinical and laboratory picture suggestive of juvenile chronic myelomonocytic leukemia (JCMMoL).	1793161	Human
nf-1	posterior fossa meningioma	The first two met the diagnostic criteria for NF-1, although case 2 had a posterior fossa meningioma, which is an uncommon finding in this group.	1905940	Human
nf 1	cerebral tumour	[Epileptic seizure as the first neurologic symptom of Recklinghausen disease in a 10-year old boy with a brain tumor] Epileptic seizure as the first neurological symptom in von Recklinghausen disease (Neurofibromatosis type 1, NF 1) in 10 year old boy wit	11247415	Human
nf 1	familial adenomatous polyposis (fap)	[Positional cloning of genes responsible for hereditary tumors] Recently, remarkable progress in molecular biology has enabled isolation of genes responsible for hereditary tumors such as retinoblastoma (RB), Wilms' tumor (WT), von Recklinghausen neu	1346083	Human
nf 1	fibromatosis	About 10 years known are the RET gene susceptible for multiple endocrine neoplasia type 2, the VHL gene for von Hippel-Lindau Disease, and the NF 1 gene for neurofibromatosis Recklinghausen (neuro- fibromatosis type 1).	15832076	Human
neurofibromin	soft tissue tumours	Reduced expression of neurofibromin in the soft tissue tumours obtained from patients with neurofibromatosis type I. 1.	7614817	Human
neurofibromin	soft tissue tumours	We analysed the expression of neurofibromin mRNAs, encoded by the gene responsible for neurofibromatosis type 1, and of neurofibromin protein in nine soft tissue tumours by S1 nuclease mapping and Western blot analyses.	7614817	Human
neurofibromin	squamous cell carcinomas	Further studies concentrated on neurofibromin expression in basal cell and squamous cell carcinomas.	7637322	Human
neurofibromin	neuroendocrine tumors	An explanation for the high prevalence of neuroendocrine tumors in NvR might be the loss of neurofibromin, a tumor suppressor protein, which is the main product of the neurofibromatosis-l-gene.	9577907	Human
neurofibromin	peripheral primitive neuroectodermal tumour (ppnet)	In this study the relationship between p21ras, type 1 GAP120 and neurofibromin with growth and differentiation has been examined in neuroblastoma and peripheral primitive neuroectodermal tumour (pPNET) cell lines.	9619634	Human
nf 1	acoustic neuroma	The typical NF 1 patient has café-au-lait spots, melanin pigmentation and palpable neurofibromas, while NF 2 has its onset with the development of tinnitus or hearing loss, due to the presence of bilateral acoustic neuroma.	8538027	Human
nf1	non-hodgkin's lymphoma	A young child with neurofibromatosis type 1 (NF1) is reported who developed two primary malignancies: a glioblastoma, followed 6 months later by an abdominal B cell non-Hodgkin's lymphoma.	7968792	Human
nf1	juvenile chronic myelogenous leukaemia (jcml)	For example, activating point mutations in RAS genes are found in some patients with juvenile chronic myelogenous leukaemia (JCML), while other patients with JCML show loss of the neurofibromatosis type 1 (NF1) gene, a Ras GTPase activating protein.	8563750	Human
nf1	brainstem tumors	We describe a series of NF1 brainstem tumors as being pilocytic astrocytomas, much less aggressive than non-NF1 brainstem tumors but more symptomatic than brainstem UBOs ('unidentified bright objects') in NF1.	8755348	Human
nf1	cerebral tumor	[Cerebral tumors in children with neurofibromatosis type 1] Twenty-eight children (mean age 8 years) with neurofibromatosis type 1 (NF1) and cerebral tumor were studied from 1975 to 1992 (mean follow-up 8.1 years) considering the biological behaviour of t	8766674	Human
nf1	cerebral tumors	[Cerebral tumors in children with neurofibromatosis type 1] Twenty-eight children (mean age 8 years) with neurofibromatosis type 1 (NF1) and cerebral tumor were studied from 1975 to 1992 (mean follow-up 8.1 years) considering the biological behaviour of t	8766674	Human
nf1	cerebral tumors	Considering the risk of cerebral tumors in patients with NF1, we conclude that cerebral magnetic resonance should be performed also in the asymptomatic ones.	8766674	Human
nf1	cerebral tumors	Cerebral tumors different from NCO gliomas seem to have a similar natural history in patients with or without NF1 and therefore the management should be the same for both groups.	8766674	Human
nf1	dcis	The centromeric region and the NF1 locus, which is located between the centromere and c-erbB-2, were not amplified in any of the DCIS and invasive breast carcinomas, but co-amplification of the myeloperoxidase gene was detected in 3/5 DCIS and 1/5 invasiv	9174626	Human
nf1	invasive breast carcinomas	The centromeric region and the NF1 locus, which is located between the centromere and c-erbB-2, were not amplified in any of the DCIS and invasive breast carcinomas, but co-amplification of the myeloperoxidase gene was detected in 3/5 DCIS and 1/5 invasiv	9174626	Human
nf1	invasive carcinomas	The centromeric region and the NF1 locus, which is located between the centromere and c-erbB-2, were not amplified in any of the DCIS and invasive breast carcinomas, but co-amplification of the myeloperoxidase gene was detected in 3/5 DCIS and 1/5 invasiv	9174626	Human
nf1	familial cancer	[Evaluation of cancer risk through genetic analysis?] BACKGROUND: The recent literature of familial cancer, specifically related to germline mutations of RB1, p53, NF1, ATM, BRCA1, Mismatch repair genes and APC is reviewed.	9340835	Human
nf1	soft tissue tumors	However, the incidence of cervical soft tissue tumors and the value of screening MR for children with NF1 are not known.	10382213	Human
nf1	soft tissue sarcoma	Molecular analysis was performed by reverse transcription (RT) polymerase chain reaction (PCR) on tumor RNA to seek the chimerical transcript of the most common soft tissue sarcoma translocations and analyze neurofibromatosis 1 (NF1) gene expression.	10524458	Human
nf1	colorectal cancer	[HNPCC syndrome, microsatellite instability and NF1 gene alteration] Hereditary predisposition to non polyposis colorectal cancer is caused by a heterozygous germline mutation in a DNA mismatch repair gene (essentially hMLH1 or hMSH2).	10572231	Human
nf1	hnpcc	[HNPCC syndrome, microsatellite instability and NF1 gene alteration] Hereditary predisposition to non polyposis colorectal cancer is caused by a heterozygous germline mutation in a DNA mismatch repair gene (essentially hMLH1 or hMSH2).	10572231	Human
nf1	polyposis	[HNPCC syndrome, microsatellite instability and NF1 gene alteration] Hereditary predisposition to non polyposis colorectal cancer is caused by a heterozygous germline mutation in a DNA mismatch repair gene (essentially hMLH1 or hMSH2).	10572231	Human
nf1	soft tissue sarcomas	One hundred percent of mice harboring null Nf1 and p53 alleles in cis synergize to develop soft tissue sarcomas between 3 and 7 months of age.	10591653	Mouse
nf1	soft tissue sarcoma	Editing and hyperediting of apo B, NAT1 or NF1 mRNA was not identified in any of 28 resected tumor specimens, including hepatocellular, bile duct, gastric, colorectal, pancreatic adeno- and neuroendocrine, lung adeno-, medullary thyroid and breast carcino	10597235	Human
nf1	gliomas of the visual pathway	[Long-term outcome of gliomas of the visual pathway in type 1 neurofibromatosis] BACKGROUND: Optic gliomas are frequently associated with neurofibromatosis type 1 (NF1) and belong to the diagnostic criteria of NF1.	10637799	Human
nf1	medullary thyroid carcinoma (mtc)	BACKGROUND: Subjects with neurofibromatosis type 1 (NF1) show an increased risk of endocrine tumors, especially pheochromocytoma, whereas thyroid C-cell hyperplasia (CCH) and medullary thyroid carcinoma (MTC) are very rare events described only in adult p	11815730	Human
nf1	hemangiopericytomas	NF1 deletions, often in the form of monosomy 17, were found in MPNSTs (76%). neurofibromas (31%), hemangiopericytomas (17%), and fibrosarcomas (17%), but not in synovial sarcomas or cellular schwannomas.	12152785	Human
nf1	synovial sarcomas	NF1 deletions, often in the form of monosomy 17, were found in MPNSTs (76%). neurofibromas (31%), hemangiopericytomas (17%), and fibrosarcomas (17%), but not in synovial sarcomas or cellular schwannomas.	12152785	Human
nf1	ovarian cancer	CONCLUSION: The concurrence of NF1 and hereditary breast/ovarian cancer in this family is likely due to the presence of two linked mutations at the NF1 and BRCA1 loci.	12217765	Human
nf1	mediastinal neurofibroma	Seventeen months before, when the patient underwent surgery at the same Department for both a left-sided paravertebral inferior mediastinal neurofibroma and a right-sided axillary neurofibroma, diagnosis of von Recklinghausen disease (NF1) was made, accor	12903608	Human
nf1	juvenile xanthogranuloma (jxg)	The clinical features and natural history of juvenile xanthogranuloma (JXG) in 14 children affected by neurofibromatosis 1 (NF1) are reported.	15078345	Human
nf1	hereditary nonpolyposis colorectal cancer (hnpcc)	Heterozygous germ-line mutations in DNA mismatch repair (MMR) genes predispose individuals to hereditary nonpolyposis colorectal cancer (HNPCC), whereas with homozygous MMR gene mutations children are diagnosed at an early age with de novo neurofibromatos	15139004	Human
nf1	hnpcc	Here, we describe a mutation, MLH1 P648S, which was found in a typical HNPCC family, with one homozygous child displaying mild features of NF1 and no hematological cancers.	15139004	Human
nf1	brachial plexus tumors	One hundred forty-one benign lesions were brachial plexus tumors: 54 schwannomas (38%) and 87 neurofibromas (62%), of which 55 (63%) were solitary neurofibromas and 32 (37%) were neurofibromatosis Type 1 (NF1)-associated neurofibromas.	15739552	Human
nf1	colon cancer	CONCLUSIONS: Our findings suggest that the NF1 gene may play a role in the development and progression of colon cancer and the NF1 gene may be a potential tumour marker and a new potential target for colon cancer therapy.	15840687	Human
nf1	multiple endocrine neoplasia type ii	Up to date, four diagnosis of familal disease (multiple endocrine neoplasia type II, von Hippel Lindau disease, neurofibromatosis type 1 and hereditary paraganglioma) should be discussed and causative mutations in six different phaechomocytoma susceptibil	16001332	Human
nf1	malignant neoplasms	Therapy-induced malignant neoplasms in Nf1 mutant mice.	16226708	Mouse
nf1	vestibular schwannoma	METHODS: In 54 unrelated patients without clinical NF1 or NF2, 36 patients had sporadic vestibular schwannoma, and 18 dorsal spinal root schwannoma.	16232328	Human
nf1	intracranial tumors	The development of intracranial tumors in adults with NF1 is uncommon and to our knowledge, siblings with adult onset gliomas have not been previously reported.	16725158	Human
nf1	endocrine tumors	It is well known that patients with von Recklinghausen syndrome (NF-1) (OMIM 162200) carrying NF1 germline mutations are predisposed to endocrine tumors including pheochromocytomas and duodenal somatostatinomas.	16861979	Human
nf1	pancreatic endocrine carcinoma	To determine the potential association between the NF-1 syndrome and pancreatic endocrine tumors, we analyzed a NF-1 patient with a well-differentiated pancreatic endocrine carcinoma for NF1 mutation, allelic loss of the NF1 gene and its expression in per	16861979	Human
nf1	pancreatic endocrine tumors	To determine the potential association between the NF-1 syndrome and pancreatic endocrine tumors, we analyzed a NF-1 patient with a well-differentiated pancreatic endocrine carcinoma for NF1 mutation, allelic loss of the NF1 gene and its expression in per	16861979	Human
nf1	insulinoma	These results show that the wild-type NF1 transcrips and protein are reduced, in the reported insulinoma, supposedly by epigenetic mechanisms.	16861979	Human
nf1	insulinomas	Furthermore, the NF1 gene must be considered as a candidate tumor suppressor gene for sporadic insulinomas and probably other pancreatic endocrine tumors.	16861979	Human
nf1	pancreatic endocrine tumors	Furthermore, the NF1 gene must be considered as a candidate tumor suppressor gene for sporadic insulinomas and probably other pancreatic endocrine tumors.	16861979	Human
nf-1	melanocytic nevi	[Von Recklinghausen neurofibromatosis and dermal melanocytic nevi] Neurofibromas, café au lait macules and freckles in the axillary or inguinal regions are common manifestations of von Recklinghausen's neurofibromatosis (NF-1).	7790193	Human
nf-1	melanocytic nevi	Such pathologic rearrangement in the embryogenesis of the cellular elements could be important for the pathogenesis of NF-1 and dermal melanocytic nevi.	7790193	Human
nf-1	nhl	We carried out the first detailed population-based study of leukaemia and non-Hodgkin lymphoma (NHL) associated with NF-1 in order to estimate the risk and elucidate the relationship between these conditions.	7947106	Human
nf-1	chronic myelomonocytic leukaemia (cmml)	Over the 17 year study period there were five cases of chronic myelomonocytic leukaemia (CMML) in patients with NF-1 (relative risk 221; 95% CI 71-514), 12 cases of acute lymphoblastic leukaemia (ALL) (relative risk 5.4; 95% CI 2.8-9.4) and five cases of	7947106	Human
nf-1	nhl	Over the 17 year study period there were five cases of chronic myelomonocytic leukaemia (CMML) in patients with NF-1 (relative risk 221; 95% CI 71-514), 12 cases of acute lymphoblastic leukaemia (ALL) (relative risk 5.4; 95% CI 2.8-9.4) and five cases of	7947106	Human
nf-1	intracranial tumour	In 12 children complications of NF-1 were noted before diagnosis of their underlying condition, and half of the children had a serious complication, including intracranial tumour, optic glioma, scoliosis, pseudarthrosis tibiae, or mental handicap.	8066837	Human
nf-1	skin tumors	NF-1 is Von Recklinghasusen's neurofibromatosis and comprises characteristic skin lesions (cafe au lait spots, intertriginous freckles, neurofibromatous skin tumors) and other congenital and hamartomatous bone, endocrine glands and central nervous sy	11320736	Human
nf-1	soft tissue tumors	MPNST accounts for about 5-10% of all soft tissue tumors and is often associated with neurofibromatosis type I (NF-1, von Recklinghausen's disease).	11769579	Human
nf-1	pheochromocytoma	The classical pheochromocytoma genes Ret, Vhl, and Nf-1 remained intact, a finding consistent with the intersection of these genes with pathways engaged by Pten and Ink4a/Arf.	11818530	Mouse
nf-1	soft tissue sarcoma	Neurofibromatosis type I (NF-1) is a genetic syndrome associated with soft tissue sarcoma and higher risk of developing neoplasia.	15688204	Human
nf-1	insulinoma	Pancreatic endocrine tumors are a rare manifestation of the neurofibromatosis type 1 phenotype: molecular analysis of a malignant insulinoma in a NF-1 patient.	16861979	Human
nf-1	pancreatic endocrine tumors	Pancreatic endocrine tumors are a rare manifestation of the neurofibromatosis type 1 phenotype: molecular analysis of a malignant insulinoma in a NF-1 patient.	16861979	Human
nf-1	endocrine tumors	It is well known that patients with von Recklinghausen syndrome (NF-1) (OMIM 162200) carrying NF1 germline mutations are predisposed to endocrine tumors including pheochromocytomas and duodenal somatostatinomas.	16861979	Human
nf-1	insulinomas	It is unclear, however, whether the rarely reported occurrence of pancreatic insulinomas in NF-1 patients represents a coincidental finding or whether insulinomas are a rare manifestation of the NF-1 syndrome.	16861979	Human
nf-1	pancreatic endocrine carcinoma	To determine the potential association between the NF-1 syndrome and pancreatic endocrine tumors, we analyzed a NF-1 patient with a well-differentiated pancreatic endocrine carcinoma for NF1 mutation, allelic loss of the NF1 gene and its expression in per	16861979	Human
nf-1	pancreatic endocrine tumors	To determine the potential association between the NF-1 syndrome and pancreatic endocrine tumors, we analyzed a NF-1 patient with a well-differentiated pancreatic endocrine carcinoma for NF1 mutation, allelic loss of the NF1 gene and its expression in per	16861979	Human
nf-1	insulinomas	In this line, insulinomas may be viewed as a rare manifestation of the NF-1 syndrome.	16861979	Human
nf1	optic pathway tumours	CONCLUSIONS: Because optic pathway tumours arise in children younger than 6 years of age, all NF1 children should undergo yearly ophtalmologic examination and growth assessment to monitor signs of precocious puberty.	17301720	Human
neurofibromin	cancer-predisposing syndrome	Case report. Neurofibromatosis type 1 (NF1) is the most common familial cancer-predisposing syndrome in humans, for which the gene (NF1) and its gene product (neurofibromin) have been identified.	8622163	Human
neurofibromin	mouse pheochromocytoma (mpc)	Nf1 encodes a ras-GTPase-activating protein, neurofibromin, and mouse pheochromocytoma (MPC) cells in primary cultures typically show extensive spontaneous neuronal differentiation that may result from the loss of the remaining wild-type allele and defect	11151443	Mouse
nf1	cancer-predisposing syndrome	Case report. Neurofibromatosis type 1 (NF1) is the most common familial cancer-predisposing syndrome in humans, for which the gene (NF1) and its gene product (neurofibromin) have been identified.	8622163	Human
nf1	recurrent anaplastic astrocytoma	RESULTS. One recurrent anaplastic astrocytoma showed LOH within NF1 but not with a flanking marker located near the gene.	8625164	Human
nf1	malignant peripheral nerve tumours	Whether this pathogenic mechanism is applicable to benign and malignant peripheral nerve tumours from NF1 and non NF1 patients is not known, due to lack of a tissue based assay.	8637706	Human
nf1	ossifying fibroma	In this report a case of symptomatic frontoparietotemporal ossifying fibroma with intracranial growth and cerebral displacement in a 12-year-old boy with neurofibromatosis type 1 (NF1) is described.	8893736	Human
nf1	ossifying fibromas	To the authors' knowledge, ossifying fibromas of calvarial bones have not been described in NF1.	8893736	Human
nf1	optic pathway glioma	Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 Optic Pathway Glioma Task Force.	9029062	Human
nf1	second malignant neoplasm (smn)	The authors report monosomy 7 myelodysplastic syndrome (MDS) as a second malignant neoplasm (SMN) in five children with sporadic NF1, the results of molecular analysis for NF1 and ras alterations in their bone marrow, and summarize their experience with S	9083167	Human
nf1	optic pathway glioma (opg)	In this study we found optic pathway glioma (OPG) in 10%, macrocephaly in 36%, hydrocephalus in 5%, retardation in 14%, brain tumours in 5%, kyphoscoliosis in 13%. renal artery stenosis in 0.5% and neurofibrosarcoma in 0.5% of NF1 patients.	9127578	Human
nf1	borderline ovarian tumor	We measured relative expression of NF1 Type II and Type I isoforms in cultured normal and malignant human ovarian surface epithelial cells(HOSE) and in invasive and borderline ovarian tumor tissue.	9926941	Human
nf1	abdominal tumor	[A young woman with neurofibromatosis 1 (Recklinghausen disease), abdominal tumor and hypertension] HISTORY AND ADMISSION FINDINGS: A 38-year-old woman, known to have type 1 neurofibromatosis (NF1; von Recklinghausen's disease) and recurrence of a ma	11129996	Human
nf1	mouse pheochromocytoma (mpc)	Nf1 encodes a ras-GTPase-activating protein, neurofibromin, and mouse pheochromocytoma (MPC) cells in primary cultures typically show extensive spontaneous neuronal differentiation that may result from the loss of the remaining wild-type allele and defect	11151443	Mouse
nf1	optic pathway tumours	CONCLUSIONS: In this study we showed an high correlation between optic pathway tumours and ophthalmologic abnormalities confirming the usefulness of an integrated clinical-neuroradiological approach in patients affected by NF1.	11438792	Human
nf1	primary pulmonary sarcoma	We report here a case of primary pulmonary sarcoma complicated with neurofibromatosis type 1 (NF1).	12680156	Human
nf1	primary pulmonary sarcoma	We concluded that this was a complicated case of primary pulmonary sarcoma with NF1.	12680156	Human
nf1	giant cell granuloma	Neurofibromatosis 1: a novel NF1 mutation in an 11-year-old girl with a giant cell granuloma.	12822827	Human
nf1	common cancer	Neurofibromatosis type 1 (NF1) is a common cancer predisposition syndrome affecting the nervous system.	14513407	Human
nf1	optic pathway tumors (opt)	Optic pathway tumors (OPT) occur in about 15% of individuals with Neurofibromatosis Type 1 (NF1) and may effect substantial visual loss.	15150770	Human
nf1	infantile myofibromatosis	We present a boy fulfilling the diagnostic criteria for NF1 with two unusual lesions: infantile myofibromatosis and a verrucous epidermal nevus.	15459537	Human
nf1	optic pathways glioma (opg)	An additional child had an isolated optic pathways glioma (OPG), which behaved both biologically and radiographically as an NF1 associated OPG.	15489488	Human
nf1	mouse pheochromocytoma (mpc)	Glial cell line-derived neurotrophic factor (GDNF) can induce neuron-like differentiation of mouse pheochromocytoma (MPC) cell lines derived from mice with a heterozygous knockout mutation of nf1, the murine counterpart of the human gene mutated in neurof	15572029	Human
nf1	optic pathway glioma	Children affected with the inherited tumor predisposition syndrome, neurofibromatosis 1 (NF1), are prone to the development of low-grade astrocytic optic pathway tumors (optic pathway glioma [OPG]).	15622533	Human
nf1	optic pathway tumors	Children affected with the inherited tumor predisposition syndrome, neurofibromatosis 1 (NF1), are prone to the development of low-grade astrocytic optic pathway tumors (optic pathway glioma [OPG]).	15622533	Human
nf-1	malignant peripheral neuroectodermal tumor	A case of multifocal malignant peripheral neuroectodermal tumor (PNET) arising from a plexiform neurofibroma in a 4-month-old Chinese boy with neurofibromatosis type 1 (NF-1) is described.	8544806	Human
nf-1	small intestinal stromal tumors (sist)	A case of multiple small intestinal stromal tumors (SIST) with skeinoid fibers of the jejunum arising in a 50 year old male with neurofibromatosis 1 (NF-1) is reported.	8905879	Human
nf1	epithelial neoplasms	The dysregulation in cellular proliferation and signaling induced by decreased NF1 along with the PTCH gene mutation may explain the pattern of immunohistochemical staining within these tumors, and the rare association of NF1 with epithelial neoplasms.	16207184	Human
nf1	inherited cancer syndromes	They arise sporadically or occur secondary to inherited cancer syndromes, such as multiple endocrine neoplasia type II (MEN2), von Hippel-Lindau disease (VHL), or neurofibromatosis type I (NF1).	16215979	Human
nf1	multiple endocrine neoplasia type ii	They arise sporadically or occur secondary to inherited cancer syndromes, such as multiple endocrine neoplasia type II (MEN2), von Hippel-Lindau disease (VHL), or neurofibromatosis type I (NF1).	16215979	Human
nf1	cns tumors	We report on a nonconsanguineous family in which two siblings with cutaneous manifestations leading to a diagnosis of neurofibromatosis type 1 (NF1) developed CNS tumors at an early age.	16283678	Human
nf1	cns tumors	Most recently, about a dozen other cases of inherited bi-allelic deficiency of mismatch repair (MMR) genes associated with early onset CNS tumors, hematologic malignancy, gastrointestinal neoplasia, café-au-lait spots, and other NF1 features have been re	16283678	Human
nf1	hematologic malignancy	Most recently, about a dozen other cases of inherited bi-allelic deficiency of mismatch repair (MMR) genes associated with early onset CNS tumors, hematologic malignancy, gastrointestinal neoplasia, café-au-lait spots, and other NF1 features have been re	16283678	Human
nf1	fibromas	HPTH has been associated with a number of familial diseases, such as multiple endocrine neoplasia-type 1 (MEN1), multiple endocrine neoplasia-type2A (MEN2A), neurofibromatosis type1 (NF1) and HPTH with multiple ossifying jaw fibromas (HPT-JT Syndrome).	16299679	Human
nf1	common tumor	Neurofibromatosis type 1 (NF1) is a common tumor predisposition syndrome affecting approximately 1 in 4,000 persons.	16323217	Human
nf1	mesenchymal tumors	Gastrointestinal stromal tumors (GISTs), the specific KIT- or PDFGRA-signaling driven mesenchymal tumors, most commonly occur sporadically, but there seems to be some increased tendency for these tumors to develop in patients with neurofibromatosis 1 (NF1	16330947	Human
nf1	malignant pheochromocytomas	Multiple and coexistent genetic abnormalities characterized malignant pheochromocytomas (P < 0.001), whereas locally invasive pheochromocytomas showed a significantly higher incidence of NF1 alterations (P < 0.001).	16394087	Human
nf1	common tumour	Neurofibromatosis type 1 (NF1) is a common tumour predisposition syndrome associated with numerous clinical complications.	16397625	Human
nf1	skin tumor	Twelve NF1 skin tumor samples from six patients were obtained during the operations.	16408192	Human
nf1	soft tissue sarcoma	Rhabdomyosarcoma (RMS) is an uncommon malignant soft tissue sarcoma and is also a rare tumor type in NF1 patients.	16434322	Human
nf1	adrenal tumor	Case 1: A 29-year-old man with previously undiagnosed NF1, was admitted to our hospital for hypertension and a right adrenal tumor.	16440725	Human
nf1	plasma cell dyscrasia	We will discuss the probable pathogenesis of plasma cell dyscrasia in NF1 patients, as well as the likely antimyeloma activity of biphoshonates.	16522549	Human
nf1	soft tissue neoplasm	Malignant peripheral nerve sheath tumor (MPNST) is an uncommon soft tissue neoplasm with a poor prognosis, occurring sporadically or associated with neurofibromatosis type 1 (NF1); however, the histogenesis of MPNST remains unclear, especially in sporadic	16527603	Human
nf1	osteosarcoma	We report an unusual case of a 29-year-old NF1 female suffering from malignant peripheral nerve sheath tumor (MPNST) that eventually developed osteosarcoma in the proximal femur.	16565597	Human
nf1	osteosarcoma	The correlation between the histogenesis of osteosarcoma and the genetic abnormality in NF1 patients has not been elucidated, but the finding of osteosarcomatous transformation in this case suggests the divergent cellular differentiation to mesenchymal ma	16565597	Human
nf1	adrenal pheochromocytoma	We believe this is the first report of composite adrenal pheochromocytoma and multiple GISTs occurring in an 82 year old woman with neurofibromatosis type 1 (NF1), manifested by clitoral and subcutaneous neurofibromas, epilepsy and Lisch nodules.	16640782	Human
nf1	tenosynovial giant cell tumor	A case of diffuse-type tenosynovial giant cell tumor arising in the left upper extremity is reported in a 23-year-old man with neurofibromatosis type 1 (NF1)-Noonan syndrome.	16723851	Human
nf1	soft tissue neoplasm	This uncommon type of soft tissue neoplasm occurring in this unique clinical setting served to open an inquiry into the subject of non-neurogenic tumors in association with NF1 and Noonan syndrome, both manifested in our patient.	16723851	Human
nf1	fibrohistiocytic tumor	Nonossifying fibroma of bone as a presumptive fibrohistiocytic tumor is an uncommon but well-documented manifestation in NF1, whereas in Noonan-like syndrome, both giant cell granuloma and pigmented villonodular synovitis are recognized as associated lesi	16723851	Human
nf1	tenosynovial giant cell tumor	Nonossifying fibroma of bone as a presumptive fibrohistiocytic tumor is an uncommon but well-documented manifestation in NF1, whereas in Noonan-like syndrome, both giant cell granuloma and pigmented villonodular synovitis are recognized as associated lesi	16723851	Human
nf1	paraganglioma	A question confronting clinicians is whether they should screen patients with apparently sporadic pheochromocytomas for unsuspected germline mutations of some or all of the seven genes known to cause hereditary paraganglioma or pheochromocytoma (NF1, VHL,	16735498	Human
nf1	common tumors	Neurofibromas are common tumors found in neurofibromatosis type 1 (NF1) patients.	16835260	Human
nf1	common tumors	We have constructed a variety of mouse models for NF1 that permit recapitulation of the most common tumors seen in patients.	16869751	Mouse
nf-1	adrenal cortical carcinoma	Pediatric Adrenal Cortical Carcinoma: Brain Metastases and Relationship to NF-1, Case Reports and Review of the Literature.	16132517	Human
nf-1	brain metastases	Pediatric Adrenal Cortical Carcinoma: Brain Metastases and Relationship to NF-1, Case Reports and Review of the Literature.	16132517	Human
nf-1	metastatic disease	Although ACC is known to be a signature tumor type in several inherited cancer predisposition syndromes, particularly Li Fraumeni, ACC has not been previously associated with neurofibromatosis, type 1 (NF-1), an inherited disorder with frequent CNS lesion	16132517	Human
nf-1	brain metastases	We review the literature on ACCs in pediatric patients regarding brain metastases and previous associations with NF-1.	16132517	Human
nf-1	melanocytic schwannomas	A full autopsy showed diffuse neurofibromas and café au lait macules consistent with NF-1 and malignant melanocytic schwannomas with multiple metastases.	16244794	Human
nf-1	aneurysmal bone cyst	Assessment of sacrum scalloping in NF-1 caused by aneurysmal bone cyst is described.	16427426	Human
nf-1	benign neurilemmomas	The most common intrinsic neoplasms involving the brachial plexus are benign neurilemmomas and neurofibromas that are usually associated with neurofibromatosis-1 (NF-1).	16538633	Human
nf1	tumor syndrome	Neurofibroma is a benign tumor originating from Schwann cells in peripheral nerve sheaths and may occur as a sporadic tumor or as part of the dominantly inherited tumor syndrome NF1.	15986446	Human
nf1	smoldering multiple myeloma (smm)	We present a case of a 64-year-old woman with neurofibromatosis (NF1) and smoldering multiple myeloma (SMM).	16522549	Human
nf1	giant cell granuloma	Nonossifying fibroma of bone as a presumptive fibrohistiocytic tumor is an uncommon but well-documented manifestation in NF1, whereas in Noonan-like syndrome, both giant cell granuloma and pigmented villonodular synovitis are recognized as associated lesi	16723851	Human
nf1	nonossifying fibroma	Nonossifying fibroma of bone as a presumptive fibrohistiocytic tumor is an uncommon but well-documented manifestation in NF1, whereas in Noonan-like syndrome, both giant cell granuloma and pigmented villonodular synovitis are recognized as associated lesi	16723851	Human
nf1	tumor syndrome	Neurofibromatosis type I (NF1) is an autosomal dominant familial tumor syndrome characterized by the presence of multiple benign neurofibromas.	16830335	Human
nf1	tumor syndrome	We conclude that NF1 is a familial tumor syndrome in which the type of germline mutation influences the type of second hit in the tumors.	16830335	Human
nf-1	cancer predisposition syndromes	Although ACC is known to be a signature tumor type in several inherited cancer predisposition syndromes, particularly Li Fraumeni, ACC has not been previously associated with neurofibromatosis, type 1 (NF-1), an inherited disorder with frequent CNS lesion	16132517	Human
nf-1	systemic metastases	Soon after our experience with this patient, a girl with known NF-1 presented with virilization; adrenalectomy disclosed an ACC and systemic metastases were found within months.	16132517	Human
neurofibromin	adrenal cortical tumor	Since neurofibromin is expressed in the adrenal gland, six pheochromocytomas and one adrenal cortical tumor were examined for neurofibromin expression.	7519874	Human
neurofibromin	adrenal gland neoplasms	The frequent LOH surrounding the NF1 locus and lack of neurofibromin expression in these tumors suggest that NF1 gene mutations may contribute to the development of adrenal gland neoplasms in patients with NF1.	7519874	Human
neurofibromin	neuroblastoma	Our analysis of other neural crest-derived tumor cell lines has shown that some melanoma and neuroblastoma cell lines established from tumors occurring in patients without neurofibromatosis contain reduced or undetectable levels of neurofibromin, with con	8516298	Human
neurofibromin	neural crest tumor	Our analysis of other neural crest-derived tumor cell lines has shown that some melanoma and neuroblastoma cell lines established from tumors occurring in patients without neurofibromatosis contain reduced or undetectable levels of neurofibromin, with con	8516298	Human
neurofibromin	neuroblastoma	In contrast to the schwannoma cell lines, GTP-Ras was appropriately regulated in the melanoma and neuroblastoma lines that were deficient in neurofibromin, even when c-H-ras was overexpressed in the lines.	8516298	Human
neurofibromin	schwann cell hyperplasia	Expression of Kit in neurofibromin-deficient human Schwann cells: role in Schwann cell hyperplasia associated with type 1 neurofibromatosis.	9715282	Human
nf1	lymphomas	Frequent disruption of the Nf1 gene by a novel murine AIDS virus-related provirus in BXH-2 murine myeloid lymphomas.	7474134	Mouse
nf1	lymphomas	Evi-2, a common site of viral integration in BXH-2 myeloid lymphomas, is located within a large intron of the Nf1 tumor suppressor gene.	7474134	Human
nf1	adrenal gland neoplasms	The frequent LOH surrounding the NF1 locus and lack of neurofibromin expression in these tumors suggest that NF1 gene mutations may contribute to the development of adrenal gland neoplasms in patients with NF1.	7519874	Human
nf1	medulloblastoma	In contrast to other embryonal neuronal tumors, this NF1-GRD splicing pattern could not be modified in a newly established medulloblastoma cell line by retinoic acid treatment.	7657385	Human
nf1	carcinogenesis	Malignant peripheral nerve sheath tumors (MPNST) are known to develop in patients with neurofibromatosis 1 (NF1), thus providing an excellent model for the study of multistep carcinogenesis in genetically predisposed individuals.	7828144	Human
nf1	carcinogenesis	In addition, we have assayed two other tumour-suppressor genes, WT1 and NF1, to see whether they play a role in colorectal carcinogenesis.	7947085	Human
nf1	juvenile chronic myelomonocytic leukemia (jcml)	It is seen in combination with juvenile chronic myelo-monocytic leukemia (JCML) and/or neurofibromatosis type 1 (NF1).	8177146	Human
nf1	chronic myelogenous leukemia (cml)	We investigated mutations in the GTPase activating protein-related domain of the neurofibromatosis type 1 gene (NF1-GRD) and its expression in each phase of chronic myelogenous leukemia (CML).	8207976	Human
nf1	cml	Samples from 45 cases in chronic phase (CP), 41 in acute phase, and four CML cell lines were examined for mutations in the NF1-GRD by single-strand conformation polymorphism (SSCP) analysis and allele specific restriction analysis (ASRA).	8207976	Human
nf1	cml	In 23 samples from CML cases and four CML cell lines, expression of two types of the NF1-GRD transcripts, type I and type II, were examined by NF1-GRD-specific polymerase chain reaction-based densitometric analysis and by the quantitative assay with coamp	8207976	Human
nf1	cml	However, this difference in type II expression between CP and acute phase was so small that changes of NF1-GRD transcripts as well as NF1-GRD or N-ras mutations might not be responsible for the progression of CML.	8207976	Human
nf1	leukemogenesis	We used a series of polymorphic markers within and near NF1 to determine whether leukemogenesis was associated with structural alterations of the gene.	8302341	Human
nf1	carcinogenesis	The NF1 gene seems to increase the risk not only for neural tumors but also for some non-neural tumors in an age-specific, organ-dependent pattern of carcinogenesis.	8402499	Human
nf1	neuroblastoma	Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras.	8516298	Human
nf1	neuroblastoma	Our analysis of other neural crest-derived tumor cell lines has shown that some melanoma and neuroblastoma cell lines established from tumors occurring in patients without neurofibromatosis contain reduced or undetectable levels of neurofibromin, with con	8516298	Human
nf1	neural crest tumor	Our analysis of other neural crest-derived tumor cell lines has shown that some melanoma and neuroblastoma cell lines established from tumors occurring in patients without neurofibromatosis contain reduced or undetectable levels of neurofibromin, with con	8516298	Human
nf1	solid tumors	BACKGROUND: Children with neurofibromatosis type 1 (NF1) are at increased risk of developing benign and malignant solid tumors as well as hematologic malignancies, including de novo juvenile chronic myelogenous leukemia, monosomy 7 syndrome, and acute mye	9083167	Human
nf1	primary tumors	All primary tumors were histologically diagnosed as pilocytic astrocytoma (WHO grade I), except for one anaplastic pilocytic astrocytoma (WHO grade III) which developed in an NF1 patient and recurred as glioblastoma multiforme (WHO grade IV). p53 mutation	9626343	Human
nf1	common tumour	NF1 is also noted for the higher risk of associated malignancies, making it the most common tumour-predisposing disease in humans.	9706718	Human
nf1	lymphomas	The observed cooperation in in vivo lymphomagenesis between N-ras overexpression and NF1 inactivation emphasizes the importance of searching for additional functions for the NF1 protein and of intensifying the screening for NF1 mutations in human lymphoma	9796699	Human
nf1	malignant brain tumors	Here we examined the differential expression of type I and type II transcripts of NF1-GRD in clinical samples of supratentorial malignant brain tumors by the RNA-polymerase chain reaction (PCR) method using frozen tissue sections.	1388685	Human
nf1	neural crest tumor	Interestingly, the SK-N-SH human neuroblastoma line expresses no detectable NF1 mRNA, indicating that expression of NF1 is not essential for viability of this neural crest-derived tumor cell line.	1457041	Human
nf-1	neural tumors	In another section, the focus is on NF-1 neural-crest tumors, with particular emphasis on the four types of neurofibromas (cutaneous, subcutaneous, nodular plexiform and diffuse plexiform), schwannomas, astrocytomas and neurofibrosarcomas.	2518510	Human
nf-1	malignant neural tumors	Loss of constitutional heterozygosity has not been reported in the benign tumors associated with NF-1, however, and has only been detected in a few malignant neural-crest tumors and in some tumor-derived cell lines.	8302341	Human
nf-1	optic pathway glioma	We present a 2(1/2)-year-old boy with NF-1 who demonstrated coexisting optic pathway glioma with involvement of the chiasm and optic nerve, orbital alveolar rhabdomyosarcoma and bilateral optic nerve sheath dural ectasia.	16941184	Human
nf 1	pituitary adenomas	Associations between pituitary adenomas and NF 1 are very rare and have been reported in only four cases, including the present case.	12134671	Human
neurofibromin	tumor antigen	Tumor antigen HuR binds specifically to one of five protein-binding segments in the 3'-untranslated region of the neurofibromin messenger RNA. 3'-untranslated regions of various mRNAs have been shown to contain sequence motifs which control mRNA	10673359	Human
neurofibromin	peripheral nerve sheath tumors	Schwann cells derived from peripheral nerve sheath tumors from individuals with Neurofibromatosis Type 1 (NF1) are deficient for the protein neurofibromin, which contains a GAP-related domain (NF1-GRD).	16908010	Human
nf1	carcinogenesis	Urinary bladder transitional cell carcinogenesis is associated with down-regulation of NF1 tumor suppressor gene in vivo and in vitro.	10079253	Human
nf1	tcc	This is the first study reporting alterations in NF1 gene expression in TCC.	10079253	Human
nf1	tcc	We examined NF1 gene expression in a total of 29 surgical urinary bladder TCC specimens representing grades 1 to 3 and in three cell lines, RT4, 5637, and T24 (representing grades 1 to 3, respectively).	10079253	Human
nf1	tcc	Decreased NF1 gene expression was observed in 23 of 29 (83%) TCC specimens as estimated by immunohistochemistry, the decrease being more pronounced in high-grade tumors.	10079253	Human
nf1	tcc	NF1 mRNA levels were markedly lower in TCC tissue compared with adjacent non-neoplastic urothelium, as studied by in situ hybridization for grade 3 TCC.	10079253	Human
nf1	tcc	Immunohistochemistry and Western blotting demonstrated that TCC cell lines expressed NF1 protein at different levels, expression being almost undetectable in T24 (grade 3) cells.	10079253	Human
nf1	tcc	Northern blotting for cell lines demonstrated reduced NF1 mRNA levels in grade 3 TCC cells.	10079253	Human
nf1	carcinogenesis	Our results show that both NF1 mRNA and protein levels are decreased in high-grade TCC, suggesting that alterations of NF1 gene expression may be involved in bladder TCC carcinogenesis.	10079253	Human
nf1	tcc	Our results show that both NF1 mRNA and protein levels are decreased in high-grade TCC, suggesting that alterations of NF1 gene expression may be involved in bladder TCC carcinogenesis.	10079253	Human
nf1	leukemias	Previous studies showed that a frequent common integration site in BXH2 leukemias is the Nf1 tumor suppressor gene.	10321731	Human
nf1	malignant transformation	Mutations that activate the protooncogene ras, such as loss of Nf1, cooperate with inactivating mutations at the p53 tumor suppressor gene during malignant transformation.	10591653	Human
nf1	carcinogenesis	There is increasing evidence implicating the human NF1 gene in epithelial carcinogenesis.	10844550	Human
nf1	carcinogenesis	The data support a plausible role for NF1 mutation in human epithelial carcinogenesis.	10844550	Human
nf1	low-grade tumors	OBJECTIVE/METHODS: To understand the potential role of cooperating genetic events in the development of these low-grade tumors, the authors used immunohistochemistry and selected confirmatory Western blots to examine nine symptomatic NF1-associated pilocy	11294925	Human
nf1	tcc	Lower proliferation and down-regulation of apoptosis define kinetically the deep compartment of muscle-invasive TCC of the bladder and correlate with the topographic heterogeneity, NF1-defective in superficial compartments and TP53-defective in deep compa	12109862	Human
nf1	hemangiopericytomas	To determine whether specific genetic changes differentiate between MPNST and morphologically similar neoplasms, we assessed these chromosomal regions in 22 MPNSTs (9 NF1-associated, 13 sporadic), 13 plexiform neurofibromas, 5 cellular schwannomas, 8 syno	12152785	Human
nf1	synovial sarcomas	To determine whether specific genetic changes differentiate between MPNST and morphologically similar neoplasms, we assessed these chromosomal regions in 22 MPNSTs (9 NF1-associated, 13 sporadic), 13 plexiform neurofibromas, 5 cellular schwannomas, 8 syno	12152785	Human
nf1	carotid body tumor	Tumorigenesis of NF1-associated pheochromocytomas remains unknown, as does tumor formation (i.e., carotid body tumor) in patients with germline mutations in SDHB, SDHC, and SDHD, genes that encode subunits of the mitochondrial complex II, the smallest com	12381538	Human
nf1	mpd	Recipient mice reconstituted with Nf1-/- fetal hematopoietic cells develop a myeloproliferative disease (MPD) that models the human disease.	12393498	Mouse
nf1	primary tumors	Somatic NF1 mutations were also detected in two primary tumors exhibiting an MSI phenotype.	12522551	Human
nf1	small cell carcinoma	RESULTS: Three cases of small cell carcinoma had mutations in NF1-GRD.	12734724	Human
nf1	lymphoma	PURPOSE: To report the occurrence of central nervous system (CNS) lymphoma in a patients with neurofibromatosis type 1 (NF1).	15255115	Human
nf1	brain metastases	Disseminated disease prompted concern that her complex intracranial lesions identified by neuroimaging studies might represent brain metastases, but this proved to be NF1-related hamartomatous lesions.	16132517	Human
nf1	solid tumors	Most of the solid tumors showed loss of the wild-type Nf1 allele but retained two Trp53 alleles.	16226708	Human
nf1	multiple endocrine neoplasia type 1	PCC may be associated with predisposing (germline) conditions like the multiple endocrine neoplasia type 2 (MEN2; OMIM 164761), von Hippel-Lindau syndrome (VHL; OMIM 193300), and rarely neurofibromatosis type 1 syndrome (NF1; OMIM 162200) and multiple end	16304664	Human
nf1	solid tumors	PURPOSE: This pediatric phase I trial of tipifarnib determined the maximum-tolerated dose (MTD), pharmacokinetics, and pharmacodynamics of tipifarnib in children with refractory solid tumors and neurofibromatosis type 1 (NF1) -related plexiform neurofibro	16421428	Human
nf1	human pancreatic cancer	Signal therapy of human pancreatic cancer and NF1-deficient breast cancer xenograft in mice by a combination of PP1 and GL-2003, anti-PAK1 drugs (Tyr-kinase inhibitors).	16540233	Human
nf1	common cancer	Neurofibromatosis type 1 (NF1) is the most common cancer predisposition syndrome.	16797490	Human
nf1	oropharyngeal tumor	Prenatal ultrasound and magnetic resonance imaging (MRI) demonstrated a large oropharyngeal tumor, and cardiac and cranial abnormalities consistent with neurofibromatosis type 1 (NF1) in a third-trimester fetus, which were confirmed on postmortem examinat	16981221	Human
nf1	men	We mapped the MenX locus to the distal part of rat chromosome 4, excluding the homologs of the genes responsible for the MEN syndromes (RET and MEN1) and syndromes with an endocrine tumor component (VHL and NF1).	17030811	Rat
nf1	adrenal pheochromocytoma	Hereditary adrenal pheochromocytoma is caused by germline mutations in RET, VHL, SDHB, SDHD, and NF1.	17102110	Human
nf1	ependymoma	Correlation with glioma oncogenesis demonstrated the following associations: 1) p53 mutation (Li-Fraumeni) with astrocytoma progression; 2) NF1 mutation (NF1) with pilocytic astrocytomas; and 3) NF2 mutation (NF2) with ependymoma formation.	17168501	Human
nf-1	chronic lymphocytic leukemia (cll)	We present two cases, an adult patient with chronic lymphocytic leukemia (CLL) and a child with neurofibromatosis type-1 (NF-1), where the abrupt appearance of severe anemia raised ominous clinical suspicions.	17178664	Human
nf-1	schwannomatosis	In our case, schwannomatosis, multiple schwannomas were present in a 21-yr-old woman with no stigmata or family history of NF-1 or NF-2.	17179704	Human

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