Literature Search

Marque(M),Roubertie(A),Jaussent(A),Carneiro(… J Am Acad Dermatol 2013-11-00

...NF1) develops to confirm the diagnosis. We sought to assess the prevalence of nevus anemicus (NA) in NF1 and its associa...

Pinho(RS),Fusão(EF),Paschoal(JKSF),Caran(EMM… Pediatr Int 2014-12-00

...NF1 patients or control subjects. The diagnosis of NF1 was performed according to the diagnostic criteria of the Nationa...

Roy(A),Roulin(JL),Charbonnier(V),Allain(P),F… J Int Neuropsychol Soc 2010-11-00

...NF1 with ADHD subset and NF1 without ADHD subset performed more poorly than HC on two of the tasks, whereas only the NF1...

Vicent(GP),Zaurin(R),Nacht(AS),Font-Mateu(J)… J Biol Chem 2010-01-22

...NF1 in living cells remains unclear. Here we show that depleting NF1 by small interfering RNAs or mutating the NF1-bindi...

Anastasaki(C),Woo(AS),Messiaen(LM),Gutmann(D… Hum Mol Genet 2015-06-15

...NF1 gene mutation on brain neurofibromin function relevant to learning. Herein, we employ human NF1-patient primary skin...

N Abdel-Aziz(N),Y El-Kamah(G),A Khairat(R),R… Mol Genet Genomic Med 2021-06-03

...NF1 gene. The aim of this study was to investigate clinical and molecular characteristics of a cohort of Egyptian NF1 pa...

Combemale(P),Sonzogni(L),Devic(C),Bencokova(… Mol Neurobiol 2022-01-00

...NF1. Ten minutes after X-rays irradiation, quiescent NF1 fibroblasts showed abnormally low rate of recognized DSB reflec...

Doherty(MA),Grell(K),Hove(H),Handrup(MM),Øst… Genet Med 2025-11-25

...NF1, and years of life lost (YLL) were calculated. Overall, 259 persons with NF1 (16.0%) and 578 comparators (3.6%) died...

Masocco(M),Kodra(Y),Vichi(M),Conti(S),Kanief… Orphanet J Rare Dis 2011-03-25

...NF1) have a decreased survival, yet information on NF1-associated mortality is limited. METHODS/AIM: The National Mortal...

Ruggieri(M),Pavone(P),Polizzi(A),Di Pietro(M… Br J Ophthalmol 2004-11-00

...NF1. As one of the postulated mechanisms to explain segmental NF1 is somatic mosaicism for the NF1 gene (so far demonstr...