Associated Papers
Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.
Vernimmen V et al.
Human Reproduction (oxford, England), 2026
41289058 (PubMed )
Supplement: deaf224_supplementary_table_s1.pdf
The spectrum of pathogenic NF1 variants in participants enrolling on clinical trials of MEK inhibitors for plexiform neurofibroma.
Kotch C et al.
Human Genetics, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Di Giosaffatte N et al.
Breast (edinburgh, Scotland), 2025
41218342 (PubMed )
Supplement: mmc5.xlsx › Foglio1
Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.
Fei H et al.
Orphanet Journal of Rare Diseases, 2025
40410838 (PubMed )
Supplement: 13023_2025_3807_MOESM1_ESM.xlsx › Supplementary_Table_1
A comprehensive study on surveillance outcomes of a male population followed at a hereditary breast cancer high-risk consultation at a Portuguese tertiary hospital.
Oliveira MJ et al.
Journal of Cancer Research and Clinical Oncology, 2023
Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.
Zhang L et al.
Molecular Oncology, 2022
35971249 (PubMed )
Supplement: MOL2-16-3689-s003.xlsx › Table_S2
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
Kang E et al.
Journal of Human Genetics, 2020
Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.
Brems H et al.
Cancer Research, 2009
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.
Maertens O et al.
Human Mutation, 2006
Select a paper to view details