Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

scientific article published on 3 August 2017

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1371/JOURNAL.PONE.0181465
P932PMC publication ID5542623
P698PubMed publication ID28771489

P50authorRamon BrugadaQ1546186
Josep BrugadaQ1706299
Oscar CampuzanoQ42767334
Jesús MatésQ59691666
Monica CollQ59691671
Francisco Fernández-AvilésQ60649709
Pablo Garcia-PaviaQ91734948
Catarina Allegue ToscanoQ92378882
Irene Mademont-SolerQ114428139
Bernat Del OlmoQ114428140
Carles Ferrer-CostaQ114428146
Helena RiuróQ114428147
Alexandra Pérez-SerraQ114428148
Ferran PicóQ114428150
Esther Gonzalez-LopezQ114428165
Aranzazu Díaz de BustamanteQ114428166
José Ignacio González-HeviaQ114428167
P2093author name stringAnna Iglesias
Sergio Castillo
Raquel Yotti
Sofía Cuenca
Patricia Álvarez
Maria Angeles Espinosa
Irene Méndez
Laura Padron-Barthe
María Teresa Darnaude
Ana Isabel Fernandez-Avila
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Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation SequencingQ35758994
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Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathiesQ36706648
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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 cardiomyopathyQ37269947
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Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart FailureQ39729560
Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation.Q40257237
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Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.Q41543943
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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 cardiomyopathyQ83399963
The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathyQ84375495
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathyQ84527653
Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factorsQ84756866
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P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue8
P407language of work or nameEnglishQ1860
P304page(s)e0181465
P577publication date2017-08-03
P1433published inPLOS OneQ564954
P1476titleAdditional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
P478volume12