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[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...

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...

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...

Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1.

Paria(N),Khalid(A),Shen(B),Lemoine(B),Chan(J… J Bone Miner Res 2023-00-00

...NF1) is a tumor predisposition syndrome caused by heterozygous NF1 gene mutations. Patients with NF1 present with pleiot...

Increased serum concentrations of estrogen-induced growth factors Midkine and F…

Atallah(I),Cieza Rivera(AM),Rivero Lezcano(O… Am J Transl Res 2022-00-00

...NF1) predisposes to the development of dermal and plexiform neurofibromas and serum of NF1 patients stimulates neurofibr...

Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study C…

Fjermestad(KW),Nyhus(L),Kanavin(ØJ),Heiberg(… J Genet Couns 2018-00-00

...NF1. However, little is known about HQoL in non-clinical NF1 samples. We conducted a cross-sectional self-report survey ...

Unraveling novel variants in the NF1 gene and investigating potential therapeut…

Huang(J),Yang(K),Wang(Y),Ma(X),Yang(W),Huo(X… Sci Rep 2025-07-05

...NF1 gene disrupt neurofibromin function, leading to autosomal-dominant neurofibromatosis type I (NF1). As a tumor suppre...

Subtype distribution, clinical presentation, and molecular spectrum of neurofib…

Di Giosaffatte(N),Daniele(P),Petrizzelli(F),… Breast 2025-12-00

...NF1)-associated breast cancer (BC) in a large multicenter cohort. Clinical and histopathological data from 86 NF1 patien...

Whole-exome sequencing of duodenal neuroendocrine tumors in patients with neuro…

Noë(M),Pea(A),Luchini(C),Felsenstein(M),Barb… Mod Pathol 2018-00-00

...NF1. In this study, we characterize the genetic alterations of a clinically well-characterized cohort of six NF1-associa...

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadru…

Summerer(A),Mautner(VF),Upadhyaya(M),Claes(K… Hum Genet 2018-07-00

...NF1 deletions encompassing 1.4-Mb are located within NF1-REPa and NF1-REPc, which exhibit a complex structure comprising...

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