Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study
出版年份 2023 全文链接
标题
Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study
作者
关键词
-
出版物
Genes
Volume 14, Issue 11, Pages 2042
出版商
MDPI AG
发表日期
2023-11-05
DOI
10.3390/genes14112042
参考文献
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注意：仅列出部分参考文献，下载原文获取全部文献信息。- A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom – skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report
- (2023) Olga S. Chumakova et al. TERAPEVTICHESKII ARKHIV
- Is There a Sex Difference in the Prognosis of Hypertrophic Cardiomyopathy? A Systematic Review and Meta‐Analysis
- (2023) Huilei Zhao et al. Journal of the American Heart Association
- Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy
- (2023) Mona Allouba et al. EUROPEAN HEART JOURNAL
- Diagnosis and Evaluation of Hypertrophic Cardiomyopathy
- (2022) Barry J. Maron et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
- (2022) Sofiya Andreeva et al. Frontiers in Genetics
- The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes
- (2022) Róbert Sepp et al. Diagnostics
- Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis
- (2022) Susan Christian et al. Open Heart
- Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics
- (2022) Lucas K. Keyt et al. Frontiers in Cardiovascular Medicine
- Overlapping Phenotype of Adult-Onset ALPK3-Cardiomyopathy in the Setting of Two Novel Variants
- (2022) Olga S. Chumakova et al. Cardiology Research
- Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
- (2021) Andrew R. Harper et al. NATURE GENETICS
- Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
- (2021) Rafik Tadros et al. NATURE GENETICS
- The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia
- (2021) Alexey Meshkov et al. Genes
- Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy
- (2021) Luis R Lopes et al. EUROPEAN HEART JOURNAL
- Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies
- (2021) Roddy Walsh et al. Nature Reviews Cardiology
- Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy
- (2021) Elena V. Filatova et al. Molecular Genetics & Genomic Medicine
- A Mutation Update for the FLNC gene in Myopathies and Cardiomyopathies
- (2020) Job A.J. Verdonschot et al. HUMAN MUTATION
- ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients
- (2020) Tiina Heliö et al. ESC Heart Failure
- Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy
- (2020) Adam S. Helms et al. Circulation-Genomic and Precision Medicine
- Associations Between Female Sex, Sarcomere Variants and Clinical Outcomes in Hypertrophic Cardiomyopathy
- (2020) Neal K. Lakdawala et al. Circulation-Genomic and Precision Medicine
- Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
- (2019) Roddy Walsh et al. Genome Medicine
- Genome-wide sequence analyses of ethnic populations across Russia
- (2019) Daria V. Zhernakova et al. GENOMICS
- Single-Centre Experience of Surgical Myectomy for Hypertrophic Obstructive Cardiomyopathy
- (2019) Alexander V. Afanasyev et al. Heart Lung and Circulation
- Obesity and metabolic health status are determinants for the clinical expression of hypertrophic cardiomyopathy
- (2019) Jun-Bean Park et al. European Journal of Preventive Cardiology
- Mortality Among Referral Patients With Hypertrophic Cardiomyopathy vs the General European Population
- (2019) Massimiliano Lorenzini et al. JAMA Cardiology
- The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies
- (2018) Philippe Charron et al. EUROPEAN HEART JOURNAL
- The Portuguese Registry of Hypertrophic Cardiomyopathy: Overall results
- (2018) Nuno Cardim et al. Revista Portuguesa de Cardiologia
- Global Burden of Hypertrophic Cardiomyopathy
- (2018) Barry J. Maron et al. JACC-Heart Failure
- Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy
- (2018) Latrice G. Landry et al. JAMA Cardiology
- Phenotypic variations in carriers of predicted protein-truncating genetic variants in MYBPC3: an autopsy-based case series
- (2018) Nori Williams et al. CARDIOVASCULAR PATHOLOGY
- Influence of centre expertise on the diagnosis and management of hypertrophic cardiomyopathy: A study from the French register of hypertrophic cardiomyopathy (REMY)
- (2018) Mariana Mirabel et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy
- (2018) Carolyn Y. Ho et al. CIRCULATION
- Prevalence and Clinical Implication of Double Mutations in Hypertrophic CardiomyopathyCLINICAL PERSPECTIVE
- (2017) Dana Fourey et al. Circulation-Cardiovascular Genetics
- Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic CardiomyopathyCLINICAL PERSPECTIVE
- (2017) Samantha Barratt Ross et al. Circulation-Cardiovascular Genetics
- Nonfamilial Hypertrophic CardiomyopathyCLINICAL PERSPECTIVE
- (2017) Jodie Ingles et al. Circulation-Cardiovascular Genetics
- Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
- (2016) Roddy Walsh et al. GENETICS IN MEDICINE
- Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
- (2016) Martín F. Ortiz-Genga et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Going global by adapting local: A review of recent human adaptation
- (2016) S. Fan et al. SCIENCE
- How Hypertrophic Cardiomyopathy Became a Contemporary Treatable Genetic Disease With Low Mortality
- (2016) Barry J. Maron et al. JAMA Cardiology
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain
- (2015) Diego García-Giustiniani et al. HEART
- New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy
- (2015) Christopher Semsarian et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Nationwide Study on Hypertrophic Cardiomyopathy in Iceland
- (2014) Berglind Adalsteinsdottir et al. CIRCULATION
- Hypertrophic cardiomyopathy in the developing world: focus on India
- (2014) B. J. Maron et al. EUROPEAN HEART JOURNAL
- 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
- (2014) EUROPEAN HEART JOURNAL
- Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
- (2014) Luis R Lopes et al. HEART
- A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM Risk-SCD)
- (2013) C. O'Mahony et al. EUROPEAN HEART JOURNAL
- Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy
- (2013) Yubao Zou et al. MOLECULAR BIOLOGY REPORTS
- Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population
- (2012) Pertti Jääskeläinen et al. ANNALS OF MEDICINE
- Cardiac Myosin Binding Protein-C Mutations in Families With Hypertrophic Cardiomyopathy
- (2012) Stephen P. Page et al. Circulation-Cardiovascular Genetics
- Structural Insight into Unique Cardiac Myosin-binding Protein-C Motif
- (2012) Jack W. Howarth et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands
- (2011) I. Christiaans* et al. Netherlands Heart Journal
- Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation
- (2010) Adam J. Saltzman et al. CIRCULATION RESEARCH
- Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives
- (2008) Paal Skytt Andersen et al. HUMAN MUTATION
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