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The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal …

Upadhyaya(M),Spurlock(G),Kluwe(L),Chuzhanova… Neurogenetics 2009-07-00

...NF1 patients develop spinal tumors, of whom some have familial spinal neurofibromatosis (FSNF), a variant form of NF1 in...

Recent insights into bone development, homeostasis, and repair in type 1 neurof…

Schindeler(A),Little(DG) Bone 2008-04-00

...NF1. Added to this, several recent studies have reported a high prevalence of osteoporosis or osteopenia in NF1 cohorts....

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...

Clinical presentation and genetic analyses of neurofibromatosis type 1 in indep…

Stella(A),Lastella(P),Viggiano(L),Bagnulo(R)… Hum Mutat 2022-00-00

...NF1) belongs to RASopathies, a group of syndromes caused by germline mutations in Ras/MAPK pathway genes. Most NF1 patie...

Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.

Yap(P),Super(L),Qin(J),Burgess(T),Prodanovic… Pediatr Blood Cancer 2016-04-00

...NF1) is caused by mutations in the tumor suppressor gene NF1. The increased tumor risk in affected individuals is well e...

Molecular analysis at the NF1 locus in astrocytic brain tumors.

Jensen(S),Paderanga(DC),Chen(P),Olson(K),Edw… Cancer 1995-08-15

...NF1 tumor-suppressor gene is frequently deleted in some of the malignant tumors that arise in patients with NF1, the rol...

Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effect…

Anastasaki(C),Wegscheid(ML),Hartigan(K),Papk… Stem Cell Reports 2020-00-14

...NF1 patient NF1 mutation, to identify potential differential effects of NF1 mutations on human central nervous system ce...

Injury signals cooperate with Nf1 loss to relieve the tumor-suppressive environ…

Ribeiro(S),Napoli(I),White(IJ),Parrinello(S)… Cell Rep 2013-10-17

...NF1. Here, we show that adult myelinating SCs (mSCs) are refractory to Nf1 loss. However, in the context of injury, Nf1-...

Periapical cemental dysplasia is common in women with NF1.

Visnapuu(V),Peltonen(S),Ellilä(T),Kerosuo(E)… Eur J Med Genet 2007-00-00

...NF1. Thus, cemental dysplasia was detected in 34.8% of the adult female NF1 patients, while cemental dysplasia was not p...

Nf1 has an essential role in endothelial cells.

Gitler(AD),Zhu(Y),Ismat(FA),Lu(MM),Yamauchi(… Nat Genet 2003-01-00

...NF1, though the pathogenesis is still unclear. Deficiency in neurofibromin (encoded by Nf1) in mice results in mid-embry...

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