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2014, ISBN 9036807042, ix, 102 pages
This booklet summarizes our current knowledge of founder mutation populations ('extended families') in the Netherlands, among other aspects providing insight... 
Heart | Genetic aspects | Mutation (Biology) | Diseases
Book
Reproductive Toxicology, ISSN 0890-6238, 08/2019, Volume 87, pp. 125 - 139
Methotrexate is a folic acid antagonist known to be teratogenic in humans. Several cases of congenital malformations after fetal exposure to methotrexate have... 
Pregnancy | Congenital anomaly | Teratogen | Methotrexate | LOW-DOSE METHOTREXATE | 1ST-TRIMESTER | ANOMALIES | NEURAL-TUBE DEFECTS | DEVELOPMENTAL DELAY | CHILD | REPRODUCTIVE BIOLOGY | MALFORMATIONS | EMBRYOPATHY | TOXICOLOGY | EXPOSURE | Valves | Congenital heart disease | Genetic disorders | Folic acid | Index Medicus
Journal Article
01/2016, 2nd ed. 2017, ISBN 9783319442020, 391
Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a... 
Clinical & internal medicine | Human genetics | Human Genetics | Medicine & Public Health | Cardiology
eBook
BMJ Open, ISSN 2044-6055, 07/2019, Volume 9, Issue 7, p. e025660
IntroductionIn current practice, probands are asked to inform relatives about the possibility of predictive DNA testing when a pathogenic variant causing an... 
MEDICAL SITUATIONS INVENTORY | MEDICINE, GENERAL & INTERNAL | MEMBERS | DISCLOSURE | EFFICACY | FAMILY COMMUNICATION | DISEASE | VALIDATION | GENETIC INFORMATION | LYNCH SYNDROME | CANCER | Intervention | Genetic disorders | Disease | Cardiomyopathy | Patients | Studies | Anxieties | Counseling | Genetics | Genetic testing | Deoxyribonucleic acid--DNA | Cancer | Communication
Journal Article
Circulation. Cardiovascular Genetics, ISSN 1942-325X, 07/2018, Volume 11, Issue 7, pp. e002249 - e002249
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2019, Volume 27, Issue 9, pp. 1341 - 1350
Inherited cardiac conditions (ICCs) can lead to sudden cardiac death at young age, even without previous symptoms, yet often remain undetected. To prevent... 
FAMILY-MEMBERS | DUTY | GENETIC INFORMATION | DEATH | LYNCH SYNDROME | CANCER | COMMUNICATION
Journal Article
Scientific reports, ISSN 2045-2322, 2019, Volume 9, Issue 1, pp. 4093 - 9
Recent advancements in next generation sequencing (NGS) technology have led to the identification of the giant sarcomere gene, titin (TTN), as a major human... 
MILD | GENETIC-VARIATION | SPLICING MUTATIONS | DATABASE | BASE-PAIR SUBSTITUTIONS | FORM | MULTIDISCIPLINARY SCIENCES | JUNCTIONS | CONSEQUENCES | RIGHT-VENTRICULAR CARDIOMYOPATHY | Next-generation sequencing | Connectin | Dilated cardiomyopathy | Splicing | Cardiomyopathy | Exons
Journal Article
Cardiovascular Pathology, ISSN 1054-8807, 05/2019, Volume 40, pp. 2 - 6
Phospholamban (PLN) p.Arg14del cardiomyopathy is characterized by a distinct arrhythmogenic biventricular phenotype that can be predominantly left ventricular,... 
Phospholamban | Arrhythmogenic cardiomyopathy | Next-generation sequencing | Dilated cardiomyopathy | Immunofluorescence | CARDIAC & CARDIOVASCULAR SYSTEMS | VARIANTS | VENTRICULAR CARDIOMYOPATHY | MUTATION | GUIDELINES | PATHOLOGY | CARRIERS | Proteins | Synthesis | Cardiomyopathy | Glycogen | Analysis | Heart diseases | Genetic polymorphisms
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2017, Volume 12, Issue 12
Cardiomyopathies might lead to end-stage heart disease with the requirement of drastic treatments like bridging up to transplant or heart transplantation. A... 
PERICARDIAL DISEASES | VARIANTS DATABASE | WORKING GROUP | TASK-FORCE | POSITION STATEMENT | WOOLLY HAIR | AMINO-ACID SUBSTITUTIONS | DILATED CARDIOMYOPATHY | MISSENSE MUTATIONS | RIGHT-VENTRICULAR CARDIOMYOPATHY
Journal Article
Journal of Molecular and Cellular Cardiology, ISSN 0022-2828, 01/2019, Volume 126, p. 86
Background: The intercalated disc (ID) is important for cardiac remodeling and has become a subject of intensive research efforts. However, as yet the... 
Na1.5 | Reggie | Cardiac excitation | Molecular Biology | Flotillin | Desmosome | Cardiology and Cardiovascular Medicine | Intercalated disc | Journal Article
Journal Article
Cardiovascular Pathology, ISSN 1054-8807, 2019, Volume 40, pp. 2 - 6
Phospholamban (PLN) p.Arg14del cardiomyopathy is characterized by a distinct arrhythmogenic biventricular phenotype that can be predominantly left ventricular,... 
Arrhythmogenic cardiomyopathy | Next-generation sequencing | Dilated cardiomyopathy | VARIANTS | VENTRICULAR CARDIOMYOPATHY | MUTATION | GUIDELINES | Phospholamban | Immunofluorescence | CARRIERS
Journal Article
Journal of Cardiovascular Electrophysiology, ISSN 1045-3873, 07/2018, Volume 29, Issue 7, p. 1004
Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by ventricular arrhythmias and sudden death.... 
ARVC | genetics | Cardiology and Cardiovascular Medicine | Physiology (medical) | cardiomyopathy | whole-exome sequencing | sarcomere
Journal Article
Book
BMJ Open, ISSN 2044-6055, 08/2019, Volume 9, Issue 7
Introduction In current practice, probands are asked to inform relatives about the possibility of predictive DNA testing when a pathogenic variant causing an... 
MEDICAL SITUATIONS INVENTORY | MEMBERS | DISCLOSURE | EFFICACY | FAMILY COMMUNICATION | DISEASE | VALIDATION | GENETIC INFORMATION | LYNCH SYNDROME | CANCER
Journal Article
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2015, Volume 65, Issue 10, pp. A933 - A933
  The purpose of this study was to evaluate the additional value of right ventricular endomyocardial biopsy (RVEMB) to diagnose ARVC in these mutation carriers... 
Cardiovascular | Internal Medicine | Proteins | Cardiomyopathy | Mutation
Journal Article
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