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
Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees.
Wang Y et al.
Npj Genomic Medicine, 2026
The Nf1-Q181X point mutation induces M2 macrophage polarization via the AKT/STAT pathway to promote smooth muscle cell proliferation and migration.
Yang Y et al.
Molecular Biology Reports, 2024
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 2024
The Q181X Point Mutation in Nf1 Induces Cerebral Vessel Stenosis.
Liang C et al.
Neuroscience Bulletin, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.
Huang F et al.
Scientific Reports, 2022
Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.
Sorrentino U et al.
Cancers, 2021
WITHDRAWN: Clinical findings and mutational spectrum of neurofibromatosis type 1 patients in a single center of south part of Turkey.
Demir Gündoğan B et al.
Turkish Journal of Medical Sciences, 2021
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.
Suszynska M et al.
Gynecologic Oncology, 2019
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Palma Milla C et al.
Annals of Human Genetics, 2018
Analysis of SDHD promoter mutations in various types of melanoma.
Scholz SL et al.
Oncotarget, 2015
Cerebral vasculopathy in a Chinese family with neurofibromatosis type I mutation.
Liang JT et al.
Neuroscience Bulletin, 2013
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders.
Seidita G et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2008
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
Griffiths S et al.
Familial Cancer, 2007