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
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
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
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 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
An Atypical Mechanism of SUMOylation of Neurofibromin SecPH Domain Provides New Insights into SUMOylation Site Selection.
Bergoug M et al.
Journal of Molecular Biology, 2024
Clinical and Molecular Profile of Neurofibromatosis Type 1 Patients Using Revised Diagnostic Criteria - A Retrospective Cohort Study.
Rekha A et al.
Neurology India, 2024
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.
Pacot L et al.
Npj Genomic Medicine, 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
Clinical signs and genetic evaluation of patients with neurofibromatosis type 1 with and without optic pathway gliomas in a center in Turkey.
Sharafi P et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2024
Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.
Srivastava P et al.
Heliyon, 2024
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
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
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
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Napolitano F et al.
Genes, 2022
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.
Leier A et al.
Molecular Therapy. Nucleic Acids, 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
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.
Kang E et al.
Orphanet Journal of Rare Diseases, 2022
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Riva M et al.
Genes, Chromosomes & Cancer, 2022
Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.
Long A et al.
Human Mutation, 2022
Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C.
Awad EK et al.
Journal of Personalized Medicine, 2021
Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
N Abdel-Aziz N et al.
Molecular Genetics & Genomic Medicine, 2021
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
D'Amico A et al.
Clinical Genetics, 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
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 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
Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum.
Ejerskov C et al.
Scientific Reports, 2021
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Scala M et al.
Cancers, 2021
Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism.
Legius E et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2020
Phenotypic heterogeneity of neurofibromatosis type 1 in a large international registry.
Tabata MM et al.
Jci Insight, 2020
Strategy for identification of a potential inherited leukemia predisposition in a 299 patient's cohort with tumor-only sequencing data.
Aguilera-Diaz A et al.
Leukemia Research, 2020
Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report.
Zhang Z et al.
Bmc Pediatrics, 2020
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Gnazzo M et al.
American Journal of Medical Genetics. Part A, 2020
Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations.
Anastasaki C et al.
Stem Cell Reports, 2020