Literature Search

Stansfield(BK),Bessler(WK),Mali(R),Mund(JA),… Am J Pathol 2014-01-00

...NF1) results from mutations in the NF1 tumor-suppressor gene, which encodes neurofibromin, a negative regulator of diver...

George-Abraham(JK),Martin(LJ),Kalkwarf(HJ),R… Am J Med Genet A 2013-05-00

...NF1, ages 5-20 years, using a standardized questionnaire. We surveyed 256 individuals with NF1 from two multidisciplinar...

van der Vaart(T),van Woerden(GM),Elgersma(Y)… Genes Brain Behav 2011-06-00

...NF1. Using the Rotarod, a non-specific motor performance test, we confirmed that, like NF1 patients, Nf1(+/-) mice have ...

Tanito(K),Ota(A),Kamide(R),Nakagawa(H),Niimu… J Dermatol 2014-08-00

...NF1" is generally assumed to be the result of somatic mosaicism for a NF1 mutation, and patients with mosaic NF1 have ty...

Diggs-Andrews(KA),Brown(JA),Gianino(SM),Rubi… Ann Neurol 2014-02-00

...NF1 gene mutation. In this study, we leveraged Nf1 genetically engineered mice (GEM) to define the potential role of sex...

Pride(NA),Payne(JM),Haebich(K),Arnold(SS),Bo… Sleep 2026-05-12

...NF1) is a common autosomal dominant disorder resulting from pathogenic variants in the NF1 gene. Preclinical studies sug...

de Blank(P),Li(N),Fisher(MJ),Ullrich(NJ),Bha… Genet Med 2020-00-00

...NF1 from the Childhood Cancer Survivor Study were compared with 2629 non-NF1 glioma survivors and 5051 siblings for late...

Neira(JL),Vega(S),Martínez-Rodríguez(S),Velá… Arch Biochem Biophys 2021-00-30

...NF1-GRD)). The NF1-GRD stimulates Ras GTPase activity in turning off signalling. Despite this activity, NF1-GRD has been...

Chilibeck(CM),Shah(S),Russell(HC),Vincent(AL) Ophthalmic Genet 2021-00-00

...NF1 diagnostic criteria.Results: 54.7% of patients referred had a confirmed NF1 diagnosis, and 45.4% were NF1 suspects. ...

Krenik(D),Weiss(JB),Raber(J) Brain Res 2021-00-15

...NF1 Het and wild-type litter mates with either the father (PC) or the mother (MC) as the NF1 carrier on a F1 C57BL/66/12...