Associated Papers
Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review.
Kobayashi Y et al.
Human Genome Variation, 2025
Efficacy of Sirolimus in Treating Refractory Lymphatic Malformation in Noonan Syndrome: A Case Study.
Nakajima Y et al.
Jcem Case Reports, 2025
Myeloproliferative disorder in a patient with RIT1-associated Noonan syndrome: Case report and literature review.
Suzuki K et al.
Pediatric Blood & Cancer, 2024
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
RASopathies and cardiac manifestations.
Hilal N et al.
Frontiers in Cardiovascular Medicine, 2023
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
Bajia D et al.
Cells, 2022
Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature.
Qiu Z et al.
Taiwanese Journal of Obstetrics & Gynecology, 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
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T et al.
Npj Genomic Medicine, 2020
The molecular functions of RIT1 and its contribution to human disease.
Van R et al.
The Biochemical Journal, 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
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
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.
Koh AL et al.
Molecular Genetics & Genomic Medicine, 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
A novel RIT1 mutation causes deterioration of Noonan syndrome-associated cardiac hypertrophy.
Cai J et al.
Ebiomedicine, 2019
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
Meyer Zum Büschenfelde U et al.
Plos Genetics, 2018
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
[RIT1: a novel gene associated with Noonan syndrome].
Arroyo-Carrera I et al.
Revista De Neurologia, 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
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
RASopathies: unraveling mechanisms with animal models.
Jindal GA et al.
Disease Models & Mechanisms, 2015
Further evidence of the importance of RIT1 in Noonan syndrome.
Bertola DR et al.
American Journal of Medical Genetics. Part A, 2014
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.
Gos M et al.
American Journal of Medical Genetics. Part A, 2014
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Chen PC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 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
Sequential Loss of Mandibular Permanent Incisors in Noonan Syndrome.
Friedrich RE et al.
In Vivo (athens, Greece), 0