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Phenotypic characterization of neurofibromatosis type 1 in a large Chinese coho…

Wang(Z),Hu(X),Mo(H),Shen(M),Romo(CG),Vera(K)… JAAD Int 2026-02-00

...NF1) is a multisystemic genetic disorder characterized by NF1 gene mutations. The well-described manifestations of NF1 a...

Correlation between large rearrangements and patient phenotypes in NF1 deletion…

Pacot(L),Girish(M),Knight(S),Spurlock(G),Var… BMC Med Genomics 2024-00-06

...NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequ...

Clinical and Molecular Characterization of NF1 Patients: Single-Center Experien…

Zhu(L),Zhang(Y),Tong(H),Shao(M),Gu(Y),Du(X),… Medicine (Baltimore) 2016-03-00

...NF1) is a hereditary disorder caused by mutations in the NF1 gene. Detecting mutation in NF1 is hindered by the gene's l...

Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Pa…

Cavallo(ND),Maietta(P),Perrotta(S),Moretta(P… Children (Basel) 2024-08-22

...NF1 severity/visibility and QoL were explored. Thirty-eight pediatric NF1 patients and their parents were enrolled. QoL ...

Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in ne…

Ravegnini(G),Quero(G),Sammarini(G),Giustinia… Virchows Arch 2019-02-00

...NF1 patient, harboring concurrent NF1 and SMAD4 germline mutations. Additionally, NF1-like cafe-au-lait spots have been ...

Perfusion single photon emission computed tomography in a mouse model of neurof…

Apostolova(I),Niedzielska(D),Derlin(T),Kozio… J Cereb Blood Flow Metab 2015-08-00

...NF1) is a single-gene disorder affecting neurologic function in humans. The NF1+/- mouse model with germline mutation of...

Clonal lineage of high grade serous ovarian cancer in a patient with neurofibro…

Norris(EJ),Jones(WD),Surleac(MD),Petrescu(AJ… Gynecol Oncol Rep 2018-02-00

...NF1) is caused by mutations in the NF1 gene encoding neurofibromin, which negatively regulates Ras signaling. NF1 patien...

Molecular characteristics and clinical outcomes of patients with Neurofibromin …

Arai(H),Elliott(A),Millstein(J),Xiu(J),Ou(FS… Oncogene 2022-00-00

...NF1-mutant tumors. In the CALGB/SWOG 80405 cohort, low NF1 expression was associated with poor prognosis, and high NF1 e...

Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencin…

Purandare(SM),Huntsman Breidenbach(H),Li(Y),… Genomics 1995-12-10

...NF1 locus. We used sequence differences between bona fide NF1 and NF1-homologous loci to strategically design primer set...

Optic nerve tortuosity in children with neurofibromatosis type 1.

Ji(J),Shimony(J),Gao(F),McKinstry(RC),Gutman… Pediatr Radiol 2013-10-00

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

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