Associated Papers
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.
Hirabayashi S et al.
American Journal of Hematology, 2026
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
Demir K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.
Morote-Faubel M et al.
Human Genomics, 2025
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Yield of RASopathy Gene Panel in Karyotype-Normal or Microarray-Normal Fetuses With Increased Nuchal Translucency: A Systematic Review and Meta-Analysis.
Powel JE et al.
O&g Open, 2025
Co-Occurrence of Dysembryoplastic Neuroepithelial Tumor and Hodgkin Lymphoma in a Patient with Noonan Syndrome and Mutation in the PTPN11 Gene.
Pellicciari CR et al.
Hormone Research in Paediatrics, 2025
New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.
Barbero AIS et al.
American Journal of Medical Genetics. Part A, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
Genetic correlation between fetal nuchal translucency thickening and cystic hygroma and exploration of pregnancy outcome.
Zheng J et al.
Scientific Reports, 2024
Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.
Margiotti K et al.
Current Issues in Molecular Biology, 2024
Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.
Chen Q et al.
Heliyon, 2024
Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined.
Shatara M et al.
Frontiers in Oncology, 2024
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
Genomic Analysis of Influenza A and B Viruses Carrying Baloxavir Resistance-Associated Substitutions Serially Passaged in Human Epithelial Cells.
Hickerson BT et al.
Viruses, 2023
SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities.
Liu Y et al.
Cellular and Molecular Life Sciences : Cmls, 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
Gene mutation analysis of oral submucous fibrosis cancerization in Hainan Island.
Li B et al.
Peerj, 2023
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.
Eboreime J et al.
Human Mutation, 2022
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
Swarts JW et al.
American Journal of Medical Genetics. Part A, 2022
Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.
Sun L et al.
Frontiers in Genetics, 2022
Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.
Stagi S et al.
Frontiers in Endocrinology, 2022
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome.
D'Amico A et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2021
Genomic profile of advanced breast cancer in circulating tumour DNA.
Kingston B et al.
Nature Communications, 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
Recent Advances of SHP2 Inhibitors in Cancer Therapy: Current Development and Clinical Application.
Yuan X et al.
Journal of Medicinal Chemistry, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.
Lodi M et al.
Diagnostics (basel, Switzerland), 2020
Defining language disorders in children and adolescents with Noonan Syndrome.
Lazzaro G et al.
Molecular Genetics & Genomic Medicine, 2020
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP et al.
Bmc Medical Genetics, 2020
A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.
Wang N et al.
Bmc Gastroenterology, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
Yu KPT et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Occurrence of high-grade glioma in Noonan syndrome: Report of two cases.
El-Ayadi M et al.
Pediatric Blood & Cancer, 2019
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.
Leach NT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Psychopathological features in Noonan syndrome.
Perrino F et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Case report: Left ventricular noncompaction cardiomyopathy and RASopathies.
Sublett JA et al.
European Journal of Medical Genetics, 2017