SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
SOS1
mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 179, Issue 10, Pages 2083-2090
Publisher
Wiley
Online
2019-08-01
DOI
10.1002/ajmg.a.61312
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes
- (2018) Ozge Ceyhan-Birsoy et al. HUMAN MUTATION
- Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies
- (2018) Giulio Calcagni et al. Heart Failure Clinics
- Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
- (2018) Andrew R. Grant et al. HUMAN MUTATION
- Congenital heart disease and genetic syndromes: new insights into molecular mechanisms
- (2017) Giulio Calcagni et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
- (2017) Giulio Calcagni et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Congenital heart defects in Noonan syndrome and RIT1 mutation
- (2016) Giulio Calcagni et al. GENETICS IN MEDICINE
- Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies
- (2016) Won Kyoung Jhang et al. PEDIATRIC CARDIOLOGY
- Coronary artery ectasia in Noonan syndrome: Report of an individual withSOS1mutation and literature review
- (2015) Giulio Calcagni et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family
- (2015) Silvia Moncini et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
- (2015) Masako Yaoita et al. HUMAN GENETICS
- Recent advances in RASopathies
- (2015) Yoko Aoki et al. JOURNAL OF HUMAN GENETICS
- Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
- (2014) Francesca Romana Lepri et al. BMC Medical Genetics
- 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
- (2014) EUROPEAN HEART JOURNAL
- The MOGE(S) Classification for a Phenotype–Genotype Nomenclature of Cardiomyopathy
- (2013) Eloisa Arbustini et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Atrioventricular canal defect in patients with RASopathies
- (2012) Maria Cristina Digilio et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Pediatric Cardiomyopathy: Importance of Genetic and Metabolic Evaluation
- (2012) Steven J. Kindel et al. JOURNAL OF CARDIAC FAILURE
- Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía
- (2012) Begoña Ezquieta et al. REVISTA ESPANOLA DE CARDIOLOGIA
- Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
- (2010) Tomoko Kobayashi et al. HUMAN MUTATION
- PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome
- (2008) Jung Min Ko et al. JOURNAL OF HUMAN GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started