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Multiple increased osteoclast functions in individuals with neurofibromatosis t…

Stevenson(DA),Yan(J),He(Y),Li(H),Liu(Y),Zhan… Am J Med Genet A 2011-05-00

...NF1). We report the cellular phenotype of NF1 human-derived osteoclasts and compare the in vitro findings with the clini...

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients fr…

Ben-Salem(S),Al-Shamsi(AM),Ali(BR),Al-Gazali… Childs Nerv Syst 2014-07-00

...NF1 gene cause a cancer predisposition syndrome known as neurofibromatosis type 1 (NF1). This disease is one of the most...

Analysis of crossover breakpoints yields new insights into the nature of the ge…

Bengesser(K),Vogt(J),Mussotter(T),Mautner(VF… Hum Mutat 2014-02-00

...NF1 deletions investigated. In contrast to the meiotic type-1 NF1 deletions, type-2 NF1 deletions are predominantly of p...

The genetic and neuroanatomical basis of social dysfunction: lessons from neuro…

Pride(NA),Korgaonkar(MS),Barton(B),Payne(JM)… Hum Brain Mapp 2014-05-00

...NF1 and explore the neural correlates for these deficits. Twenty-nine adults with NF1 and 30 controls were administered ...

Non-invasive endothelial function assessment in patients with neurofibromatosis…

Rodrigues(LO),Rodrigues(LO),Castro(LL),Rezen… BMC Cardiovasc Disord 2013-03-11

...NF1. The purpose of this study was to assess endothelial function in patients with NF1 using a non-invasive method. NF1 ...

Sensitivity of glioblastomas to clinically available MEK inhibitors is defined …

See(WL),Tan(IL),Mukherjee(J),Nicolaides(T),P… Cancer Res 2012-07-01

...NF1-deficient acute myeloid leukemias are sensitive to MEK inhibitors, we investigated here whether NF1-deficient gliobl...

Aberrant growth and differentiation of oligodendrocyte progenitors in neurofibr…

Bennett(MR),Rizvi(TA),Karyala(S),McKinnon(RD… J Neurosci 2003-08-06

...Nf1+/- spinal cords in adult mice have more than twofold-increased numbers of NG2+ progenitor cells. Nf1-/- embryonic sp...

Identification of neurofibromatosis type I gene product as an insoluble GTPase-…

Hattori(S),Maekawa(M),Nakamura(S) Oncogene 1992-03-00

...NF1 gene product expressed in tissues. Antibodies against the carboxy terminus and the GAP-related domain of the NF1 gen...

Mid-aortic syndrome with renovascular hypertension and multisystem involvement …

Petrak(B),Bendova(S),Seeman(T),Klein(T),Lisy… Neuro Endocrinol Lett 2007-12-00

...NF1. A 9 years old girl with primary diagnosis of NF1 combined with renovascular hypertension due to MAS, suffered of bi...

Neurofibromatosis type I tumor suppressor neurofibromin regulates neuronal diff…

Yunoue(S),Tokuo(H),Fukunaga(K),Feng(L),Ozawa… J Biol Chem 2003-07-18

...NF1-GAP increase was due to the induction of alternative splicing of NF1-GRD type I triggered by the NGF-induced Ras act...

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