Literature Search

Riccardi(VM) Birth Defects Res A Clin Mol … 2010-01-00

...NF1) is caused by mutations in the NF1 gene, which influences the availability of activated Ras and the latter's control...

Griesser(J),Kaufmann(D),Eisenbarth(I),Bäuerl… Biol Chem Hoppe Seyler 1995-02-00

...NF1 gene defects. The NF1 gene shares sequence homology with the p120 GTPase activating protein (p120-GAP) and neurofibr...

DeClue(JE),Heffelfinger(S),Benvenuto(G),Ling… J Clin Invest 2000-05-00

...NF1 patients expressed the EGF-R, as did 7 of 7 other primary MPNSTs, a non-NF1 MPNST cell line, and the S100(+) cells f...

Streubel(B),Latta(E),Kehrer-Sawatzki(H),Hoff… Am J Med Genet 1999-11-05

...NF1) due to mosaicism for a gross deletion in 17q11.2 covering the entire NF1 gene. The deletion was suspected in Giemsa...

Natacci(F),Colapietro(P),Riva(P),Corrado(L),… Mol Cell Probes 1999-12-00

...NF1 polymorphic markers in an Italian NF1 population consisting of 17 familial and 41 sporadic cases, for a total of 79 ...

Klose(A),Peters(H),Hoffmeyer(S),Buske(A),Lüd… Am J Med Genet 1999-03-05

...NF1 gene in a three-generation kindred with neurofibromatosis type 1 (NF1). Using temperature gradient gel electrophores...

Kaufmann(D),Bartelt(B),Hoffmeyer(S),Müller(R) Arch Dermatol Res 1999-06-00

...NF1 patients, MNFS) and 25 h (café-au-lait macules of NF1 patients, MNFC). In PMA-stimulated cells the neurofibromin hal...

Hiatt(KK),Ingram(DA),Zhang(Y),Bollag(G),Clap… J Biol Chem 2001-03-09

...NF1). Furthermore, utilizing a GAP-inactive mutant NF1 GRD identified in a family with NF1, we demonstrate that growth r...

Ulusal(SD),Gürkan(H),Atlı(E),Özal(SA),Çiftde… Balkan J Med Genet 2017-06-30

...NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence o...

Miyagishima(KJ),Qiao(F),Stasheff(SF),Nadal-N… Vision (Basel) 2024-05-09

...NF1, current diagnostic techniques and therapeutic interventions, and explores the influence of NF1-OPGS on visual abnor...