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Optical coherence tomography in the evaluation of neurofibromatosis type-1 subj…

Chang(L),El-Dairi(MA),Frempong(TA),Burner(EL… J AAPOS 2010-12-00

...NF1 and known OPGs, 6 subjects with NF1 without OPGs, and 15 controls. NF1 subjects with OPGs had thinner RNFLs and macu...

A distinct set of Drosophila brain neurons required for neurofibromatosis type …

Buchanan(ME),Davis(RL) J Neurosci 2010-07-28

...NF1). A learning phenotype is also present in Drosophila melanogaster that lack a functional neurofibromin gene (nf1). M...

Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable p…

Uusitalo(E),Kallionpää(RA),Kurki(S),Rantanen… Br J Cancer 2017-01-17

...NF1). To explain the poor survival, we aimed to link the histopathology and clinical characteristics of NF1-associated b...

[Gene therapy strategies and prospects for neurofibromatosis type 1].

Zheng(T),Zhu(B),Wang(Z),Li(Q) Zhongguo Xiu Fu Chong Jian Wa… 2024-01-15

...NF1) and related research progress. The recent literature on gene therapy for NF1 at home and abroad was reviewed. The s...

Predicting neurofibromatosis type 1 risk among children with isolated café-au-l…

Ben-Shachar(S),Dubov(T),Toledano-Alhadef(H),… J Am Acad Dermatol 2017-06-00

...NF1. We conducted a retrospective study of patients with isolated CALMs. Diagnosis of NF1 was based on detecting NF1 mut...

Hospital Visits Associated With Oral Infections in Patients With Neurofibromato…

Reinhold(V),Kallionpää(RA),Valtanen(M),Auran… Am J Med Genet A 2025-02-00

...NF1 and hospital visits related to oral infections. The Finnish NF1 cohort encompasses all individuals with verified NF1...

Children with 5'-end NF1 gene mutations are more likely to have glioma.

Anastasaki(C),Morris(SM),Gao(F),Gutmann(DH) Neurol Genet 2017-10-00

...NF1 and glioma are more likely to harbor nonsense mutations in the 5' end of the NF1 gene, suggesting that the NF1 mutat...

An executive functioning perspective in neurofibromatosis type 1: from ADHD and…

Smith(TF),Kaczorowski(JA),Acosta(MT) Childs Nerv Syst 2020-00-00

...NF1, ADHD, and ASD. However, relatively little is known about the heterogeneity of EFs and ADHD and ASD outcomes in NF1....

Unravelling the genetic basis of variable clinical expression in neurofibromato…

Sabbagh(A),Pasmant(E),Laurendeau(I),Parfait(… Hum Mol Genet 2009-08-01

...NF1 allele in the variable expression of NF1 through a family-based association study. Nine tag SNPs in NF1 were genotyp...

Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42)…

Yang(L),Fu(J),Cheng(J),Zhou(B),Chen(M),Anuch… BMC Med Genomics 2023-00-24

...NF1 gene diagnosis showed both alleles as wild types. Thus, this NF1 novel variant probably underlays the NF1 pathogenes...

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