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
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.
Bess J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Comprehensive structure-function analysis reveals gain- and loss-of-function mechanisms impacting oncogenic KRAS activity.
Kwon JJ et al.
Biorxiv : the Preprint Server for Biology, 2024
A Literature Review and Pooled Case Analysis of Cardiofaciocutaneous Syndrome to Estimate Cancer Risk.
Bess J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Comparative analysis of KRAS4a and KRAS4b splice variants reveals distinctive structural and functional properties.
Whitley MJ et al.
Science Advances, 2024
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.
Zhang J et al.
Nature Medicine, 2024
Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies.
Tamburrino F et al.
Frontiers in Endocrinology, 2024
RASopathies and cardiac manifestations.
Hilal N et al.
Frontiers in Cardiovascular Medicine, 2023
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
Kenney-Jung DL et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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
Markov State Models and Molecular Dynamics Simulations Reveal the Conformational Transition of the Intrinsically Disordered Hypervariable Region of K-Ras4B to the Ordered Conformation.
Zhang H et al.
Journal of Chemical Information and Modeling, 2022
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
Classification of KRAS-Activating Mutations and the Implications for Therapeutic Intervention.
Johnson C et al.
Cancer Discovery, 2022
Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics.
Tripathi S et al.
Computational and Structural Biotechnology Journal, 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 and Functional Characterization of Atypical KRAS/NRAS Mutations in Metastatic Colorectal Cancer.
Loree JM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Application of CRISPR-Cas9 gene editing for congenital heart disease.
Seok H et al.
Clinical and Experimental Pediatrics, 2021
Embryonic Expression of NrasG 12 D Leads to Embryonic Lethality and Cardiac Defects.
You X et al.
Frontiers in Cell and Developmental Biology, 2021
Induction of Noonan syndrome-specific human-induced pluripotent stem cells under serum-, feeder-, and integration-free conditions.
Hamada A et al.
In Vitro Cellular & Developmental Biology. Animal, 2020
Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.
Hong TH et al.
Journal for Immunotherapy of Cancer, 2020
Development of Noonan syndrome by deregulation of allosteric SOS autoactivation.
Umutesi HG et al.
The Journal of Biological Chemistry, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.
Dunnett-Kane V et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2020
GTP hydrolysis is modulated by Arg34 in the RASopathy-associated KRASP34R.
Bera AK et al.
Birth Defects Research, 2020
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos E et al.
Clinical Genetics, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Detection and verification of 2.3 million cancer mutations in NCI60 cancer cell lines with a cloud search engine.
Prakash A et al.
Journal of Proteomics, 2019
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Brown AL et al.
Plos Computational Biology, 2019
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J et al.
Nature Medicine, 2019
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.
Chen H et al.
Orphanet Journal of Rare Diseases, 2019
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.
Malaquias AC et al.
Hormone Research in Paediatrics, 2019
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
Leung GKC et al.
Scientific Reports, 2018
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.
Huang Z et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018
An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing.
Kim J et al.
Annals of Pediatric Endocrinology & Metabolism, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Next-generation sequencing adds value to the preoperative diagnosis of pancreatic cysts.
Rosenbaum MW et al.
Cancer Cytopathology, 2017
Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).
Zhang J et al.
Molecular Medicine Reports, 2016
Drugging Ras GTPase: a comprehensive mechanistic and signaling structural view.
Lu S et al.
Chemical Society Reviews, 2016
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
Calcagni G et al.
American Journal of Medical Genetics. Part A, 2016
The disordered hypervariable region and the folded catalytic domain of oncogenic K-Ras4B partner in phospholipid binding.
Banerjee A et al.
Current Opinion in Structural Biology, 2016
Impact of next-generation sequencing on the clinical diagnosis of pancreatic cysts.
Jones M et al.
Gastrointestinal Endoscopy, 2016
Oncogenic and RASopathy-associated K-RAS mutations relieve membrane-dependent occlusion of the effector-binding site.
Mazhab-Jafari MT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
Kratz CP et al.
British Journal of Cancer, 2015
Bilateral giant coronary aneurysms in a 40-year-old male with Noonan syndrome caused by a KRAS germline mutation.
Fujimoto N et al.
International Journal of Cardiology, 2014
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.
Nosan G et al.
Croatian Medical Journal, 2013
Negative regulation of Shh levels by Kras and Fgfr2 during hair follicle development.
Mukhopadhyay A et al.
Developmental Biology, 2013