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Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification…

Rademacher(A),Schwarz(N),Seiffert(S),Pendziw… Neuropediatrics 2020-00-00

...NF1-related WS (NF1-WS) in a cohort of 51 NF1 patients and performed whole-exome sequencing (WES) to identify genetic mo...

Genomic organization of the neurofibromatosis 1 gene (NF1).

Li(Y),O'Connell(P),Breidenbach(HH),Cawthon(R… Genomics 1995-01-01

...NF1 cDNA has been sequenced, the complete genomic structure of the NF1 gene has not been elucidated. The 5' end of NF1 i...

Eating disorders in young patients with neurofibromatosis type 1.

Chiavarino(F),Pruccoli(J),Cecconi(I),Vancini… J Paediatr Child Health 2023-00-00

...NF1. Case series of five adolescent females with NF1 treated for FED. We collected data from five patients with NF1 aged...

Neurofibromatosis type 1 system-based manifestations and treatments: a review.

Saleh(M),Dib(A),Beaini(S),Saad(C),Faraj(S),E… Neurol Sci 2023-06-00

...NF1) is a genetic disorder caused by a mutation in the NF1 gene. This disease presents with various system-based manifes...

Abnormal peripheral blood cell counts in neurofibromatosis type 1.

Nobeyama(Y),Yasuda(KI),Asahina(A) Sci Rep 2022-00-05

...NF1. This study therefore examined these parameters in NF1 patients. We recruited 153 NF patients (78 males, 75 females)...

The molecular landscape of glioma in patients with Neurofibromatosis 1.

D'Angelo(F),Ceccarelli(M),Tala,Garofano(L),Z… Nat Med 2019-00-00

...NF1 (NF1-glioma). We found that the predisposing germline mutation of the NF1 gene was frequently converted to homozygos...

NF1 Patients Receiving Breast Cancer Screening: Insights from The Ontario High …

Maani(N),Westergard(S),Yang(J),Scaranelo(AM)… Cancers (Basel) 2019-05-22

...NF1) is caused by variants in neurofibromin (NF1). NF1 predisposes to a variety of benign and malignant tumor types, inc...

Neurological malignancies in neurofibromatosis type 1.

Eoli(M),Saletti(V),Finocchiaro(G) Curr Opin Oncol 2019-00-00

...NF1) management: the identification of specific NF1 gene mutations predicting the risk for developing neurological malig...

Circulating free DNA in the plasma of individuals with neurofibromatosis type 1.

Kallionpää(RA),Ahramo(K),Aaltonen(M),Pennane… Am J Med Genet A 2021-00-00

...NF1) is an autosomal dominant syndrome whose characteristic manifestations include benign neurofibromas, yet NF1 is also...

Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.

Pinti(E),Nemeth(K),Staub(K),Lengyel(A),Feket… BMC Pediatr 2021-00-29

...NF1), which is caused by heterozygous inactivating pathogenic variants in the NF1, has poor phenotypic expressivity in t...

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