Associated Papers
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
Demir K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.
Gulrajani NB et al.
Prenatal Diagnosis, 2025
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Clinical and molecular analysis of seventy-one fetal cases with RASopathies.
Yu QX et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.
Fetisova S et al.
Pediatric Research, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Prenatal diagnosis of a familial heterozygous pathogenic variant in the PTPN11 gene (c.1510A>G, p.M504V) in a fetus with increased nuchal translucency and pleural effusion and a mother carrier with atypical Noonan syndrome.
Chen CP
Taiwanese Journal of Obstetrics & Gynecology, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies.
Lee SJ et al.
Scientific Reports, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Yılmaz Uzman C et al.
European Journal of Pediatrics, 2024
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
Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.
Ilic N et al.
Genes, 2024
Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.
Zepeda-Olmos PM et al.
Genes, 2024
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Noonan syndrome and type 1 Chiari malformation: Possible association.
Samuels M et al.
American Journal of Medical Genetics. Part A, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up.
Liu Z et al.
Translational Pediatrics, 2024
Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.
Qin G et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Mutation and cell state compatibility is required and targetable in Ph+ acute lymphoblastic leukemia minimal residual disease.
Winter PS et al.
Biorxiv : the Preprint Server for Biology, 2024
High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
Ouboukss F et al.
Journal of Applied Genetics, 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
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.
Zhang J et al.
Nature Medicine, 2024
Undiagnosed RASopathies in infertile men.
Juchnewitsch AG et al.
Frontiers in Endocrinology, 2024
Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies.
Tamburrino F et al.
Frontiers in Endocrinology, 2024
Management strategies for optimal linear growth in Noonan syndrome (NS) children: minireview and case series of three patients with NS due to PTPN11 mutation and confirmed growth hormone deficiency.
Kowalik D et al.
Endokrynologia Polska, 2024
SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities.
Liu Y et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome-A Case Report.
Świerczyńska M et al.
Children (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
Preimplantation genetic testing for hereditary hearing loss in Chinese population.
Bi Q et al.
Journal of Assisted Reproduction and Genetics, 2023
Prenatal exome sequencing and impact on perinatal outcome: cohort study.
Poljak B et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2023
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
Preliminary investigation of the diagnosis and gene function of deep learning PTPN11 gene mutation syndrome deafness.
Wu X et al.
Frontiers in Genetics, 2023
Clinical Characteristics and Prognosis of Acute Myeloid Leukemia Patients with Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation.
Huang R et al.
Pharmacogenomics and Personalized Medicine, 2023
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.
Baldo F et al.
Bmc Pediatrics, 2022
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
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
Papadopoulos G et al.
European Journal of Pediatrics, 2022
Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.
Liu M et al.
European Journal of Human Genetics : Ejhg, 2022
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit.
Zhu Y et al.
Jama Network Open, 2022