Associated Papers
Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature.
Trimeche O et al.
Journal of Medical Genetics, 2025
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
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
American Association of Neuropathologists, Inc. Abstracts of the 97th Annual Meeting June 10-13, 2021 St. Louis, Missouri.
Unknown Author
Journal of Neuropathology and Experimental Neurology, 2021
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Bertola DR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.
Accetturo M et al.
International Journal of Molecular Sciences, 2020
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Koczkowska M et al.
American Journal of Human Genetics, 2018
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
Ben-Shachar S et al.
European Journal of Human Genetics : Ejhg, 2013
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
Fahrner JA et al.
American Journal of Medical Genetics. Part A, 2012
Lethal presentation of neurofibromatosis and Noonan syndrome.
Prada CE et al.
American Journal of Medical Genetics. Part A, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
Nyström AM et al.
Clinical Genetics, 2009
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
Bertola DR et al.
American Journal of Medical Genetics. Part A, 2005
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.
Wang Q et al.
Human Genetics, 2003
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold R et al.
American Journal of Human Genetics, 2000
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
Maynard J et al.
Human Genetics, 1997