Associated Papers
High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans.
Kim J et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.
Vernimmen V et al.
Human Reproduction (oxford, England), 2026
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.
Wang K et al.
Journal of Human Genetics, 2025
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
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Pacot L et al.
Journal of Medical Genetics, 2025
Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.
Genç A et al.
European Journal of Pediatrics, 2025
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 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
Engineering precision zebrafish alleles of human disease.
Thomas HR et al.
Biorxiv : the Preprint Server for Biology, 2025
The Role of Artificial Intelligence in Identifying NF1 Gene Variants and Improving Diagnosis.
Grech VS et al.
Genes, 2025
Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.
Bessis D 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
Neuroendocrine Tumors: Germline Genetics and Hereditary Syndromes.
Lauricella E et al.
Current Treatment Options in Oncology, 2025
Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules.
Lovatt C et al.
Skin Health and Disease, 2024
Genotype-phenotype correlations and treatment innovation of neurofibromatosis type 1 (NF1): Current understanding and perspective.
Zhu B et al.
Chinese Medical Journal, 2024
Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a].
Chen Y et al.
Cancers, 2024
Genotype-phenotype correlations of neurofibromatosis type 1: a cross-sectional study from a large Chinese cohort.
Zhu B et al.
Journal of Neurology, 2024
Distinctive mesenchymal-like neurofibroma stem cells shape NF1 clinical phenotypes controlled by BDNF microenvironment.
Shi J et al.
Translational Oncology, 2024
Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.
Srivastava P et al.
Heliyon, 2024
Neurofibromatosis type1, type 2, tuberous sclerosis and Von Hippel-Lindau disease.
Elbeltagy M et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2023
Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1.
Mallone F et al.
International Journal of Molecular Sciences, 2023
The Contribution of Oxidative Stress to NF1-Altered Tumors.
Kuhn E et al.
Antioxidants (basel, Switzerland), 2023
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
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
Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.
Nasi L et al.
Acta Dermato-venereologica, 2023
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Ognibene M et al.
Cancers, 2023
Familial café-au-lait macules associated with in-frame deletion of NF1 p.Met992del mimicking Legius syndrome.
Nakato D et al.
Congenital Anomalies, 2023
Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution.
Angelova-Toshkina D et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2023
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.
Peduto C et al.
Cancers, 2023
Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype.
Santoro C et al.
European Journal of Human Genetics : Ejhg, 2023
Destabilizing NF1 variants act in a dominant negative manner through neurofibromin dimerization.
Young LC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra R et al.
Cancers, 2022
Role of nerves in neurofibromatosis type 1-related nervous system tumors.
Ge LL et al.
Cellular Oncology (dordrecht, Netherlands), 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
Genetic Disorders with Predisposition to Paediatric Haematopoietic Malignancies-A Review.
Filipiuk A et al.
Cancers, 2022
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Forde C et al.
European Journal of Human Genetics : Ejhg, 2022
Good genotype-phenotype relationships in rare disease are hard to find.
McNeill A
European Journal of Human Genetics : Ejhg, 2022
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.
Kehrer-Sawatzki H et al.
Human Genetics, 2022
Neurofibromin and suppression of tumorigenesis: beyond the GAP.
Mo J et al.
Oncogene, 2022
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Riva M et al.
Genes, Chromosomes & Cancer, 2022
Novel germinal mutation in NF1: case report.
Arredondo Montero J et al.
Molecular Biology Reports, 2021
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients.
Güneş N et al.
Annals of Human Genetics, 2021
Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use.
Bettegowda C et al.
Neurology, 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