Literature Search

Stevenson(DA),Viskochil(DH),Rope(AF),Carey(J… Clin Genet 2006-03-00

...NF1 mutation with variable features of NF1 and Noonan syndrome. We hypothesize that an NF1 mutant allele can lead to dia...

Giraud(JS),Jouinot(A),Pasmant(E),Tlemsani(C) NPJ Precis Oncol 2024-02-10

...NF1-mutated lung adenocarcinomas. 341/4,181 (8.2%) TCGA lung adenocarcinomas samples have a somatic NF1 mutation. NF1-mu...

Ainsworth(PJ),Rodenhiser(DI),Costa(MT) Hum Genet 1993-03-00

...NF1 is high, with as many as half of all cases resulting from new mutations. Although the NF1 gene has been cloned and i...

Dilts(CV),Carey(JC),Kircher(JC),Hoffman(RO),… J Dev Behav Pediatr 1996-08-00

...NF1. Forty-two percent of NF1 subjects had abnormal VER and underwent magnetic resonance imagery or computed tomography ...

Riva(P),Castorina(P),Manoukian(S),Dalprà(L),… Hum Genet 1996-12-00

...NF1 gene, showed that the patient is hemizygous at sites within the NF1 gene-the AAAT-Alu repeat in the 5' region of int...

Angara(K),Pai(EL),Bilinovich(SM),Stafford(AM… Proc Natl Acad Sci U S A 2020-00-17

...NF1) is caused by mutations in the NF1 gene, which encodes the protein, neurofibromin, an inhibitor of Ras activity. Cor...

Eoli(M),Bianchessi(D),Di Stefano(AL),Prodi(E… Neurol Sci 2012-12-00

...NF1. Although in children with NF1, the most common neoplasms are optic nerve gliomas and brain tumors, an elevated risk...

Kaufmann(D),Hoesch(J),Su(Y),Deeg(L),Mellert(… Mol Syndromol 2012-10-00

...NF1 haploinsufficient fibroblasts. Age-matched fibroblasts from 8 patients with neurofibromatosis type 1 (NF1(+/-)) and ...

Soucy(EA),van Oppen(D),Nejedly(NL),Gao(F),Gu… J Child Neurol 2013-03-00

...NF1 but were not significant when one of the parents had NF1. Moreover, height z scores for children with NF1 were also ...

Hakimi(MA),Speicher(DW),Shiekhattar(R) J Biol Chem 2002-10-04

...NF1 complex delineates a large holo-NF1 complex (2 MDa) encompassing the components of a smaller particulate core-NF1 co...