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
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Di Giosaffatte N et al.
Breast (edinburgh, Scotland), 2025
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.
Zheng Y et al.
Human Molecular Genetics, 2025
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
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.
Hida T et al.
Cancer Medicine, 2024
Beyond the marrow: insights from comprehensive next-generation sequencing of extramedullary multiple myeloma tumors.
Jelinek T et al.
Leukemia, 2024
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.
Tesi B et al.
The Lancet Regional Health. Europe, 2024
Next-generation variant exon screening: Moving forward in routine genetic disease investigations.
Wang C et al.
Genetics in Medicine Open, 2024
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P et al.
European Journal of Human Genetics : Ejhg, 2023
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra R et al.
Cancers, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Riva M et al.
Genes, Chromosomes & Cancer, 2022
The gene diagnosis of neurofibromatosis type I with headache as the main symptom: A case report and review of the literature.
Gao M et al.
Frontiers in Neurology, 2022
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 2021
Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
Bianchessi D et al.
Genes, 2020
Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.
Yao R et al.
Genes, 2019
Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1.
Wang W et al.
Molecular Biology Reports, 2019
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.
Frayling IM et al.
Journal of Medical Genetics, 2019
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Palma Milla C et al.
Annals of Human Genetics, 2018
Clinical and molecular characterization of neurofibromatosis in southern Brazil.
Rosset C et al.
Expert Review of Molecular Diagnostics, 2018
THSD7A-associated membranous nephropathy in a patient with neurofibromatosis type 1.
Lin F et al.
European Journal of Medical Genetics, 2018
Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.
Wang X et al.
Genes, Chromosomes & Cancer, 2018
Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.
Ulusal SD et al.
Balkan Journal of Medical Genetics : Bjmg, 2017
Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report.
Ponti G et al.
Oncology Letters, 2016
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
Hutter S et al.
Human Genetics, 2016
Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.
Anastasaki C et al.
Human Molecular Genetics, 2015
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Xu W et al.
International Journal of Molecular Medicine, 2014
NF1 truncating mutations associated to aggressive clinical phenotype with elephantiasis neuromatosa and solid malignancies.
Ponti G et al.
Anticancer Research, 2014