scholarly article | Q13442814 |
P50 | author | Ramon Brugada | Q1546186 |
Josep Brugada | Q1706299 | ||
Oscar Campuzano | Q42767334 | ||
Jesús Matés | Q59691666 | ||
Monica Coll | Q59691671 | ||
Francisco Fernández-Avilés | Q60649709 | ||
Pablo Garcia-Pavia | Q91734948 | ||
Catarina Allegue Toscano | Q92378882 | ||
Irene Mademont-Soler | Q114428139 | ||
Bernat Del Olmo | Q114428140 | ||
Carles Ferrer-Costa | Q114428146 | ||
Helena Riuró | Q114428147 | ||
Alexandra Pérez-Serra | Q114428148 | ||
Ferran Picó | Q114428150 | ||
Esther Gonzalez-Lopez | Q114428165 | ||
Aranzazu Díaz de Bustamante | Q114428166 | ||
José Ignacio González-Hevia | Q114428167 | ||
P2093 | author name string | Anna Iglesias | |
Sergio Castillo | |||
Raquel Yotti | |||
Sofía Cuenca | |||
Patricia Álvarez | |||
Maria Angeles Espinosa | |||
Irene Méndez | |||
Laura Padron-Barthe | |||
María Teresa Darnaude | |||
Ana Isabel Fernandez-Avila | |||
P2860 | cites work | A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. | Q24301857 |
dbSNP: the NCBI database of genetic variation | Q24608672 | ||
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources | Q24644530 | ||
A global reference for human genetic variation | Q25909434 | ||
A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies | Q26738818 | ||
Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 | ||
A method and server for predicting damaging missense mutations | Q27860835 | ||
Usefulness of genetic testing for hypertrophic cardiomyopathy in real-world practice | Q43726129 | ||
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy | Q43759447 | ||
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction | Q43834775 | ||
Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history | Q44373407 | ||
Genetic basis of end-stage hypertrophic cardiomyopathy. | Q44423205 | ||
Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy | Q46075680 | ||
DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies | Q46207696 | ||
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy | Q46557269 | ||
A new mutational mechanism for hypertrophic cardiomyopathy | Q47357677 | ||
Sarcomeric genotyping in hypertrophic cardiomyopathy | Q47877972 | ||
Toronto hypertrophic cardiomyopathy genotype score for prediction of a positive genotype in hypertrophic cardiomyopathy. | Q51288449 | ||
MutationTaster2: mutation prediction for the deep-sequencing age. | Q52877992 | ||
Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. | Q54618727 | ||
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene | Q57907320 | ||
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy | Q58544806 | ||
The Sequence Alignment/Map format and SAMtools | Q27860966 | ||
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy | Q28115580 | ||
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy | Q28198707 | ||
The GEM mapper: fast, accurate and versatile alignment by filtration | Q28278121 | ||
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). | Q33164685 | ||
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection | Q33471359 | ||
Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing. | Q33812972 | ||
Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults | Q34058337 | ||
Truncations of titin causing dilated cardiomyopathy. | Q34254460 | ||
Predicting the functional effect of amino acid substitutions and indels | Q34441875 | ||
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy | Q34445272 | ||
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 | ||
Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy | Q35580191 | ||
Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group. | Q35609565 | ||
Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy | Q35612541 | ||
Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing | Q35758994 | ||
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease | Q36027981 | ||
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. | Q36537101 | ||
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies | Q36706648 | ||
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing | Q36712985 | ||
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. | Q36847480 | ||
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics | Q37130043 | ||
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. | Q37209940 | ||
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy | Q37269947 | ||
ClinVar: public archive of relationships among sequence variation and human phenotype | Q37661886 | ||
A systematic approach to assessing the clinical significance of genetic variants. | Q37715677 | ||
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes. | Q39023719 | ||
Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure | Q39729560 | ||
Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation. | Q40257237 | ||
Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy | Q40444308 | ||
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. | Q41543943 | ||
Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. | Q43465188 | ||
The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain). | Q43577553 | ||
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. | Q43691323 | ||
Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy | Q83399963 | ||
The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy | Q84375495 | ||
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy | Q84527653 | ||
Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors | Q84756866 | ||
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing | Q85849190 | ||
Genetics of hypertrophic cardiomyopathy in Norway | Q86500885 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 8 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | e0181465 | |
P577 | publication date | 2017-08-03 | |
P1433 | published in | PLOS One | Q564954 |
P1476 | title | Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy | |
P478 | volume | 12 |