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Epidemiology of neurofibromatosis type 1.

Friedman(JM) Am J Med Genet 1999-03-26

...NF1) is about 1/3,000. There are no known ethnic groups in which NF1 does not occur or is unusually common. The prevalen...

The GAP-related domain of neurofibromin attenuates proliferation and downregula…

Morgan(KJ),Rowley(MA),Wiesner(SM),Hasz(DE),V… Leuk Res 2007-08-00

...NF1 tumor suppressor causes myeloproliferative diseases. NF1 encodes a GTPase activating protein (GAP) for Ras. Myeloid ...

Coincident liposarcoma, carcinoid and gastrointestinal stromal tumor complicati…

James(AW),Chang(L),Genshaft(S),Dry(SM) J Orthop 2015-10-00

...NF1) is associated with increased risk of multiple neoplasms. We present a case of a female patient with NF1 who present...

[Analysis of NF1 gene variants in a Chinese pedigree and a sporadic patient wit…

Zhao(X),Zhou(K),Zhang(Q),Cai(L) Zhonghua Yi Xue Yi Chuan Xue … 2024-03-10

...NF1 gene in the sporadic case. Variants of the NF1 gene may account for the occurrence of NF1 in this pedigree and spora...

Neuropsychological impairments in elderly Neurofibromatosis type 1 patients.

Costa(Dde S),de Paula(JJ),de Rezende(NA),Rod… Eur J Med Genet 2014-04-00

...NF1) patients, but neuropsychological data including elderly NF1 are extremely sparse. We compared the cognitive perform...

Neurofibromatosis type 1 (NF1): diagnosis and management.

Ferner(RE),Gutmann(DH) Handb Clin Neurol 2013-00-00

...NF1 was cloned on chromosome 17q11.2 and neurofibromin, the NF1 protein, controls cell growth and proliferation by regul...

CXCL12 alone is insufficient for gliomagenesis in Nf1 mutant mice.

Sun(T),Gianino(SM),Jackson(E),Piwnica-Worms(… J Neuroimmunol 2010-07-27

...NF1)-associated optic pathway glioma (OPG). We hypothesized that the distinct pattern of glioma in NF1 reflected spatiot...

Phenotypic Spectrum of Neurofibromatosis Type 1 Patients in India and Low Preva…

Kaur(R),Chowdhury(MR),Chauhan(S),Gupta(N),Ku… Am J Med Genet A 2026-06-00

...NF1 phenotype in an Indian cohort of 72 patients. The study also explored the frequency of NF1 deletions/duplications in...

Predictors of cognitive, behavioural and academic difficulties in NF1.

Geoffray(MM),Robinson(L),Ramamurthy(K),Mande… J Psychiatr Res 2021-00-00

...NF1 status and neurological complications on the cognitive, behavioural and academic outcomes in NF1. Participants inclu...

Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform N…

Friedrich(RE),Hagel(C),Kohlrusch(FK),Schanze… Anticancer Res 2020-06-00

...NF1 gene in the skin tumours, but not in overlying skin or blood. Segmental NF1 is a distinct type of mosaic/somatic NF1...

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