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

Mademont-Soler, Irene; Mates, Jesus; Yotti, Raquel; Espinosa, Maria Angeles; Pérez-Serra, Alexandra; Fernandez-Avila, Ana Isabel; Coll, Monica; Méndez, Irene; Iglesias, Anna; Del Olmo, Bernat; Riuró, Helena; Cuenca, Sofía; Allegue, Catarina; Campuzano, Oscar; Picó, Ferran; Ferrer-Costa, Carles; Álvarez, Patricia; Castillo, Sergio; Garcia-Pavia, Pablo; Gonzalez-Lopez, Esther; Padron-Barthe, Laura; Díaz de Bustamante, Aranzazu; Darnaude, María Teresa; González-Hevia, José Ignacio; Brugada, Josep; Fernandez-Aviles, Francisco; Brugada, Ramon

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Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/30893

Title:	Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Authors:	Mademont-Soler, Irene Mates, Jesus Yotti, Raquel Espinosa, Maria Angeles Pérez-Serra, Alexandra Fernandez-Avila, Ana Isabel Coll, Monica Méndez, Irene Iglesias, Anna Del Olmo, Bernat Riuró, Helena Cuenca, Sofía Allegue, Catarina Campuzano, Oscar Picó, Ferran Ferrer-Costa, Carles Álvarez, Patricia Castillo, Sergio Garcia-Pavia, Pablo Gonzalez-Lopez, Esther Padron-Barthe, Laura Díaz de Bustamante, Aranzazu Darnaude, María Teresa González-Hevia, José Ignacio Brugada, Josep Fernandez-Aviles, Francisco Brugada, Ramon View more
Mesh:	Base Sequence Calcium-Binding Proteins Cardiomyopathy, Hypertrophic Carrier Proteins Cohort Studies Connectin Female Heterozygote Humans Male Middle Aged Sarcomeres DNA Copy Number Variations Genetic Testing High-Throughput Nucleotide Sequencing View more
Issue Date:	2017
Citation:	Mademont-Soler I, Mates J, Yotti R, Espinosa MA, Pérez-Serra A, Fernandez-Avila AI, et al. Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. PLoS One. 2017;12(8):e0181465
Abstract:	Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic value of screening for minor and candidate genes, and the role of copy number variants (CNVs) deserves further evaluation.
PMID:	28771489
URI:	https://hdl.handle.net/20.500.12530/30893
Rights:	openAccess
Appears in Collections:	Fundaciones e Institutos de Investigación > IIS H. General U. Gregorio Marañón > Artículos Hospitales > H. U. Puerta de Hierro Majadahonda > Artículos Hospitales > H. U. de Móstoles > Artículos Fundaciones e Institutos de Investigación > IIS H. U. Puerta de Hierro-Segovia de Arana > Artículos

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