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Identification of de novo deletions at the NF1 gene: no preferential paternal o…

Valero(MC),Pascual-Castroviejo(I),Velasco(E)… Hum Genet 1997-06-00

...NF1) is a common autosomal dominant disorder. To date, a relatively small number of NF1 mutations have been characterize...

The heterogeneous nature of germline mutations in NF1 patients with malignant p…

Upadhyaya(M),Spurlock(G),Majounie(E),Griffit… Hum Mutat 2006-07-00

...NF1). We have analysed lymphocyte DNA samples from 30 NF1 patients with MPNSTs to determine their underlying constitutio...

Decreased bone mineral density in patients with neurofibromatosis 1.

Lammert(M),Kappler(M),Mautner(VF),Lammert(K)… Osteoporos Int 2005-09-00

...NF1 patients. Recent studies have suggested that decreased bone mineral density (BMD) may occur among patients with NF1....

The NF1 tumor suppressor critically regulates TSC2 and mTOR.

Johannessen(CM),Reczek(EE),James(MF),Brems(H… Proc Natl Acad Sci U S A 2005-06-14

...NF1 tumor suppressor gene underlie the familial cancer syndrome neurofibromatosis type I (NF1). The NF1-encoded protein,...

Cognitive functions in neurofibromatosis type 1 patients and unaffected sibling…

Erdoğan-Bakar(E),Cinbiş(M),Ozyürek(H),Kiriş(… Turk J Pediatr 2009-00-00

...NF1). We aimed to define the cognitive profiles frequently associated with NF1. Children and adolescents with NF1 (n=58)...

[Translated article] Neurofibromatosis Type 1: Diagnostic Timelines in Children.

García-Martínez(FJ),Hernández-Martín(A) Actas Dermosifiliogr 2023-03-00

...NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate...

Neurofibromatosis type 1-dependent alterations in mouse microglia function are …

Logiacco(F),Grzegorzek(LC),Cordell(EC),Popp(… Acta Neuropathol Commun 2023-00-09

...Nf1-mutant knockout mice by intercrossing Nf1flox/flox with Cx3cr1-CreER mice (Nf1flox/wt; Cx3cr1-CreER mice, Nf1MG ± mi...

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromato…

Carton(C),Evans(DG),Blanco(I),Friedrich(RE),… EClinicalMedicine 2023-02-00

...NF1. Proposals for NF1 care and its specific manifestations have been developed, but lack integration within routine car...

Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenoty…

Zhang(J),Tong(H),Fu(X),Zhang(Y),Liu(J),Cheng… Sci Rep 2015-06-09

...NF1. Because of the age-dependent presentation of NF1, it is often difficult to make an early clinical diagnosis. Moreov...

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you …

Pasmant(E),Parfait(B),Luscan(A),Goussard(P),… Eur J Hum Genet 2015-05-00

...NF1, and the lack of mutation hotspots. A somatic alteration of the wild-type NF1 allele is observed in NF1-associated t...

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