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Optic nerve tortuosity in children with neurofibromatosis type 1.

Ji(Joyce),Shimony(Joshua),Gao(Feng),McKinstr… Pediatr Radiol 2014-04-21

...NF1. There was no difference in the tortuosity index between NF1 subjects with optic pathway glioma and NF1 subjects wit...

Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibrom…

Xu(W),Mulligan(LM),Ponder(MA),Liu(L),Smith(B… Genes Chromosomes Cancer 1992-06-00

...NF1 tumours has not revealed the frequent allele losses encompassing the NF1 locus, implying loss of the wild-type NF1 a...

Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnosti…

Ho(WY),Farrelly(E),Stevenson(DA) Am J Med Genet A 2022-00-00

...NF1. This study aimed to investigate the impact of these new diagnostic criteria on time to diagnosis (TTD) of NF1. A re...

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse …

Chohan(H),Esfandiarei(M),Arman(D),Van Raamsd… PLoS One 2018-00-00

...NF1) is reduced. Despite this observation, gonadal function has not been examined in patients with NF1. In order to asse...

One NF1 Mutation may Conceal Another.

Pacot(L),Burin des Roziers(C),Laurendeau(I),… Genes (Basel) 2019-00-22

...NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. The NF1 gene ...

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 …

Kluwe(Lan),Siebert(Reiner),Gesk(Stefan),Frie… Hum Mutat 2004-03-08

...NF1) patients were screened for deletions of the NF1 gene. After excluding 67 patients with known intragenic NF1 mutatio...

Ablation of NF1 function in neurons induces abnormal development of cerebral co…

Zhu(Y),Romero(M I),Ghosh(P),Ye(Z),Charnay(P)… Genes Dev 2001-05-17

...NF1 patients exhibit learning disabilities. To characterize NF1 function both in vitro and in vivo, we circumvent the em...

Status of the NF1 tumor suppressor locus in uveal melanoma.

Foster(William J),Fuller(Christine E),Perry(… Arch Ophthalmol 2003-09-23

...NF1). This study aims to determine whether the NF1 tumor suppressor gene is mutated in uveal melanoma.,Thirty-eight uvea...

Molecular genetic analyses in neurofibromatosis type 1 patients with tumors.

Oguzkan(Sibel),Terzi(Yunus Kasim),Cinbis(Min… Cancer Genet Cytogenet 2006-04-24

...NF1) is one of the most common autosomal dominant disorders. NF1 is clinically characterized by neurofibromas, pigmentat...

The systems biology of neurofibromatosis type 1--critical roles for microRNA.

Lee(Ming-Jen),Cho(Ji-Hoon),Galas(David J),Wa… Exp Neurol 2012-06-28

...NF1 or NF1-associated symptoms. While the molecular genetics of NF1 has made significant progress in recent years, the u...

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