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Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibro…

Yao(R),Yu(T),Xu(Y),Yu(L),Wang(J),Wang(X),Wan… Genes (Basel) 2019-00-26

...NF1 children. We attempted to correlate short stature with the locations of the pathogenic variants across the NF1 gene....

NF1 modulates the effects of Ras oncogenes: evidence of other NF1 function besi…

Corral(T),Jiménez(M),Hernández-Muñoz(I),Pére… J Cell Physiol 2003-11-00

...NF1) (the product of Nf1 gene) is a large cytosolic protein known as a negative regulator of Ras. A fragment of some 400...

A mouse embryonic stem cell model of Schwann cell differentiation for studies o…

Roth(TM),Ramamurthy(P),Ebisu(F),Lisak(RP),Be… Glia 2007-08-15

...NF1) gene functions as a tumor suppressor gene. One known function of neurofibromin, the NF1 protein product, is to acce...

Clinically aggressive central giant cell granulomas in two patients with neurof…

Edwards(PC),Fantasia(JE),Saini(T),Rosenberg(… Oral Surg Oral Med Oral Patho… 2006-12-00

...NF1-mediated osseous dysplasia. Compared to normal bone, the Nf1-haploinsufficient bone in a patient with NF1 may be les...

Screening in silico predicted remotely acting NF1 gene regulatory elements for …

Hamby(SE),Reviriego(P),Cooper(DN),Upadhyaya(… Hum Genomics 2013-08-15

...NF1), a neuroectodermal disorder, is caused by germline mutations in the NF1 gene. NF1 affects approximately 1/3,000 ind...

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type…

Titze(S),Peters(H),Währisch(S),Harder(T),Gus… Eur J Hum Genet 2010-01-00

...NF1) is caused by NF1 gene mutations. The phenotype is highly variable, with 'modifiers' being discussed as potential de...

Assessment of the potential pathogenicity of missense mutations identified in t…

Thomas(L),Richards(M),Mort(M),Dunlop(E),Coop… Hum Mutat 2012-12-00

...NF1) is caused by constitutional mutations of the NF1 tumor-suppressor gene. Although ∼85% of inherited NF1 microlesions...

MIA is a potential biomarker for tumour load in neurofibromatosis type 1.

Kolanczyk(M),Mautner(V),Kossler(N),Nguyen(R)… BMC Med 2011-07-04

...NF1-related tumours and its serum levels were significantly higher in NF1 patients than in healthy controls. Among NF1 p...

Neurofibromin regulates neural stem cell proliferation, survival, and astroglia…

Dasgupta(B),Gutmann(DH) J Neurosci 2005-06-08

...Nf1+/- NSCs survive as xenografts in naive recipient brains in vivo. Although Nf1-/- NSCs are multipotent, Nf1-/- and Nf...

Clinicopathologic and genetic analysis of siblings with NF1 and adult-onset gli…

Hariharan(S),Donahue(JE),Garre(C),Origone(P)… J Neurol Sci 2006-08-15

...NF1, given that she has a sibling with NF1 and a malignancy observed in this disorder, we hypothesize that she also has ...

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