Associated Papers
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
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Current states in understanding oligodendroglia-mediated neurological issues in neurofibromatosis type 1 (NF1).
Aghoghovwia BE et al.
Acta Neuropathologica Communications, 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
Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature.
Trimeche O et al.
Journal of Medical Genetics, 2025
Neuroendocrine Tumors: Germline Genetics and Hereditary Syndromes.
Lauricella E et al.
Current Treatment Options in Oncology, 2025
MET amplification correlates with poor prognosis and immunotherapy response as a subtype of melanoma: a multicenter retrospective study.
Cai X et al.
Bmc Cancer, 2024
Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches.
Chen J et al.
Journal of Molecular Neuroscience : Mn, 2024
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
Paediatric autoimmune diseases with ELANE mutations associated with neutropenia.
Zhang D et al.
Pediatric Rheumatology Online Journal, 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
Neuronal hyperexcitability drives central and peripheral nervous system tumor progression in models of neurofibromatosis-1.
Anastasaki C et al.
Nature Communications, 2022
Neurofibromin and suppression of tumorigenesis: beyond the GAP.
Mo J et al.
Oncogene, 2022
Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use.
Bettegowda C et al.
Neurology, 2021
Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.
Wegscheid ML et al.
Cell Reports, 2021
Genetic alteration of Chinese patients with rectal mucosal melanoma.
Li H et al.
Bmc Cancer, 2021
Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1.
Wang W et al.
Frontiers in Neurology, 2021
Phenotypic heterogeneity of neurofibromatosis type 1 in a large international registry.
Tabata MM et al.
Jci Insight, 2020
Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations.
Anastasaki C et al.
Stem Cell Reports, 2020
Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.
Shi Y et al.
Ebiomedicine, 2020
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.
Assunto A et al.
Orphanet Journal of Rare Diseases, 2019
Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.
Yao R et al.
Genes, 2019
Neurofibromin (NF1) genetic variant structure-function analyses using a full-length mouse cDNA.
Wallis D et al.
Human Mutation, 2018
Cutaneous neurofibromas in the genomics era: current understanding and open questions.
Allaway RJ et al.
British Journal of Cancer, 2018
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
Santoro C et al.
Italian Journal of Pediatrics, 2018
The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing.
Yang F et al.
Oncotargets and Therapy, 2018
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Li AH et al.
Genome Medicine, 2017
Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?
Cassiman C et al.
Clinical Genetics, 2017
Exploring the genetic basis for clinical variation in neurofibromatosis type 1.
Gutmann DH
Expert Review of Neurotherapeutics, 2016
Von recklinghausen disease: one patient - various problems.
Bergler-Czop B et al.
Balkan Journal of Medical Genetics : Bjmg, 2016
NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.
Toonen JA et al.
Human Molecular Genetics, 2016
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
Evans DG et al.
Ebiomedicine, 2016
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Pinna V et al.
European Journal of Human Genetics : Ejhg, 2015
Legius syndrome: case report and review of literature.
Benelli E et al.
Italian Journal of Pediatrics, 2015
Genomic and molecular characterization of esophageal squamous cell carcinoma.
Lin DC et al.
Nature Genetics, 2014
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
Ekvall S et al.
American Journal of Medical Genetics. Part A, 2014
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.
Nyström AM et al.
Acta Paediatrica (oslo, Norway : 1992), 2009
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.
Ars E et al.
Journal of Medical Genetics, 2003
Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes.
Sharafi P et al.
Journal of Neurogenetics, 0