Associated Papers
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.
Wolf CM et al.
Jacc. Basic to Translational Science, 2025
Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome.
De Brouchoven I et al.
Frontiers in Pediatrics, 2025
Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.
Ilic N et al.
Genes, 2024
Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up.
Pascarella A et al.
Children (basel, Switzerland), 2024
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.
Gazzin A et al.
Life (basel, Switzerland), 2024
MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept.
Chaput D et al.
The Canadian Journal of Cardiology, 2024
Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.
Stephens SB et al.
Journal of the American Heart Association, 2024
An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.
Yi JS et al.
Cardiovascular Drugs and Therapy, 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
A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review.
Tano S et al.
Molecular Genetics and Metabolism Reports, 2022
New prospectives on treatment opportunities in RASopathies.
Gelb BD 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.
Sun L et al.
Frontiers in Genetics, 2022
Noonan syndrome caused by RIT1 gene mutation: A case report and literature review.
Zha P et al.
Frontiers in Pediatrics, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
The molecular functions of RIT1 and its contribution to human disease.
Van R et al.
The Biochemical Journal, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation.
Unknown Author
American Journal of Medical Genetics. Part A, 2019
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition.
Andelfinger G et al.
Journal of the American College of Cardiology, 2019
New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.
Takahara S et al.
Ebiomedicine, 2019
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Ewans LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Response to: Milosavljevic et al. "Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature".
Stevens B et al.
American Journal of Medical Genetics. Part A, 2017
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Kouz K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Expansion of the RASopathies.
Tidyman WE et al.
Current Genetic Medicine Reports, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Cavé H et al.
European Journal of Human Genetics : Ejhg, 2016
Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).
Fang Z et al.
The Journal of Biological Chemistry, 2016
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
Milosavljević D et al.
American Journal of Medical Genetics. Part A, 2016
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.
Koenighofer M et al.
Clinical Genetics, 2016
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
Yaoita M et al.
Human Genetics, 2016
Further evidence of the importance of RIT1 in Noonan syndrome.
Bertola DR et al.
American Journal of Medical Genetics. Part A, 2014
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Aoki Y et al.
American Journal of Human Genetics, 2013