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Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected…

Evans(DG),Bowers(N),Burkitt-Wright(E),Miles(… EBioMedicine 2016-05-00

...NF1 or SPRED1 genetic variant. RNA analysis was carried out from 04/2009-12/2015 on 361 NF1 patients. A presumed causati...

Retrospective Analysis of Pediatric Optic Pathway Gliomas: Impact of NF1 Status…

Al Hassan(S),Zankar(R),Mansour(S),Elbejjani(… Am J Ophthalmol 2026-02-00

...NF1 eyes (99.9 to 75.5 μm; P = .0019) compared with NF1 eyes (73.0 to 70.4 μm; P = .0202). Among non-NF1 patients, chemo...

A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene …

Oktenli(C),Saglam(M),Demirbas(S),Thompson(P)… Clin Dysmorphol 2003-07-00

...NF1 gene, dysmorphism, mental retardation, and unusual ocular and skeletal features. Several NF1 patients with a large N...

Generation of two non-integrated induced pluripotent stem cell lines from urine…

Shi(L),Cui(Y),Qi(Z),Zhou(X),Luan(J),Han(J) Stem Cell Res 2020-00-00

...NF1) gene cause neurofibromatosis type 1 (NF1), a complex tumour predisposition syndrome. Here, we generated two induced...

Neurofibromatosis 1 associated with embryonal rhabdomyosarcoma of the urinary b…

Reich(S),Overberg-Schmidt(US),Leenen(A),Henz… Pediatr Hematol Oncol 1999-00-00

...NF1) manifesting multiple café au lait spots and bowing of the right calf. The diagnosis of NF1 had not been made before...

Increased dental caries in people with neurofibromatosis 1.

Tucker(T),Birch(P),Savoy(DM),Friedman(JM) Clin Genet 2007-12-00

...NF1. Siblings with NF1 reported significantly more dental caries (mean +/- SD, 8.1 +/- 6.6) than siblings without NF1 in...

Neurofibromin interacts with the cytoplasmic Dynein Heavy Chain 1 in melanosome…

Arun(V),Worrell(L),Wiley(JC),Kaplan(DR),Guha… FEBS Lett 2013-05-21

...NF1) is encoded by the NF1 tumour suppressor gene. Mutations result in a disorder known as Neurofibromatosis Type 1 (NF-...

Neurofibromatosis type 1: from genotype to phenotype.

Pasmant(E),Vidaud(M),Vidaud(D),Wolkenstein(P) J Med Genet 2012-08-00

...NF1 mutations. Some NF1 patients with a given NF1 mutation may develop very severe disease while others with the same mu...

A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome …

Yimenicioğlu(S),Yakut(A),Karaer(K),Zenker(M)… Childs Nerv Syst 2012-12-00

...NF1) features with Noonan syndrome. NF1 gene mutations are reported in the majority of these patients. Sequence analysis...

Neurofibromas in NF1: Schwann cell origin and role of tumor environment.

Zhu(Y),Ghosh(P),Charnay(P),Burns(DK),Parada(… Science 2002-05-03

...NF1) is one of the most prevalent dominantly inherited genetic diseases of the nervous system. NF1 encodes a tumor suppr...

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