scholarly article | Q13442814 |
P50 | author | Anna Gaertner | Q57005415 |
Lech Paluszkiewicz | Q89985435 | ||
Baerbel Klauke | Q96252671 | ||
Eugen Sandica | Q130271573 | ||
P2093 | author name string | Uwe Schulz | |
J Peter van Tintelen | |||
Jan Gummert | |||
Deniz Kececioglu | |||
Ute Blanz | |||
Hendrik Milting | |||
Astrid Kassner | |||
Antoon J van den Bogaerdt | |||
Edzard Zu Knyphausen | |||
Thorsten Laser | |||
P2860 | cites work | Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. | Q51204140 |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. | Q51291901 | ||
Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. | Q53368936 | ||
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience | Q57316356 | ||
Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy | Q57901803 | ||
Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations | Q24292940 | ||
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy | Q24306039 | ||
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy | Q24313460 | ||
Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 | ||
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 | ||
A method and server for predicting damaging missense mutations | Q27860835 | ||
The Sequence Alignment/Map format and SAMtools | Q27860966 | ||
A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair | Q28188924 | ||
Atlas of the clinical genetics of human dilated cardiomyopathy | Q28246768 | ||
Arrhythmogenic right ventricular cardiomyopathy plakophilin-2 mutations disrupt desmosome assembly and stability | Q28248827 | ||
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy | Q28250468 | ||
The ARVD/C genetic variants database: 2014 update | Q28256845 | ||
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy | Q28299300 | ||
Automated inference of molecular mechanisms of disease from amino acid substitutions. | Q30380440 | ||
Exploration of pathomechanisms triggered by a single-nucleotide polymorphism in titin's I-band: the cardiomyopathy-linked mutation T2580I. | Q30393558 | ||
Improving the prediction of disease-related variants using protein three-dimensional structure | Q30408049 | ||
Titin-truncating variants affect heart function in disease cohorts and the general population. | Q30833466 | ||
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy | Q30847057 | ||
Left ventricular non-compaction cardiomyopathy | Q33165602 | ||
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria | Q33764619 | ||
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy | Q33781552 | ||
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). | Q33910305 | ||
Truncations of titin causing dilated cardiomyopathy. | Q34254460 | ||
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine | Q34374148 | ||
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 | Q34465792 | ||
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy | Q34491330 | ||
Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. | Q34646886 | ||
Update 2011: clinical and genetic issues in familial dilated cardiomyopathy | Q34930971 | ||
Functional annotations improve the predictive score of human disease-related mutations in proteins | Q34985914 | ||
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease | Q36027981 | ||
An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish | Q36483795 | ||
Role of Titin Missense Variants in Dilated Cardiomyopathy | Q36836249 | ||
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction. | Q37346547 | ||
Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin | Q37346551 | ||
Interpreting secondary cardiac disease variants in an exome cohort | Q37460645 | ||
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). | Q37910512 | ||
Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases | Q38418005 | ||
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D): Review of 16 Pediatric Cases and a Proposal of Modified Pediatric Criteria | Q38689869 | ||
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy | Q39215711 | ||
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members | Q41144205 | ||
Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations | Q41941316 | ||
Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease. | Q42160059 | ||
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models | Q42288039 | ||
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing | Q43962585 | ||
Titin mutation in familial restrictive cardiomyopathy | Q45014249 | ||
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy | Q48080069 | ||
Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases | Q48689994 | ||
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation | Q50254257 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 12 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | homozygosity | Q114049690 |
P304 | page(s) | e0189489 | |
P577 | publication date | 2017-12-18 | |
P1433 | published in | PLOS One | Q564954 |
P1476 | title | High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation | |
P478 | volume | 12 |
Q64068696 | A step towards understanding the molecular nature of human heart failure: advances using the Sydney Heart Bank collection |
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Q90390557 | Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments |
Q100513834 | Mechanical circulatory support does not reduce advanced myocardial fibrosis in patients with terminal heart failure |
Q98772447 | RBM20 mutations in left ventricular non-compaction cardiomyopathy |
Q64042755 | Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene? |
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