Cargando…
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
BACKGROUND: Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies and carefully selected patient cohorts. Our goal was to...
Autores principales: | Hathaway, Julie, Heliö, Krista, Saarinen, Inka, Tallila, Jonna, Seppälä, Eija H., Tuupanen, Sari, Turpeinen, Hannu, Kangas-Kontio, Tiia, Schleit, Jennifer, Tommiska, Johanna, Kytölä, Ville, Valori, Miko, Muona, Mikko, Sistonen, Johanna, Gentile, Massimiliano, Salmenperä, Pertteli, Myllykangas, Samuel, Paananen, Jussi, Alastalo, Tero-Pekka, Heliö, Tiina, Koskenvuo, Juha |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7934228/ https://www.ncbi.nlm.nih.gov/pubmed/33673806 http://dx.doi.org/10.1186/s12872-021-01927-5 |
Ejemplares similares
-
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
por: Koskenvuo, Juha W., et al.
Publicado: (2021) -
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients
por: Heliö, Krista, et al.
Publicado: (2023) -
GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy
por: Heliö, Krista, et al.
Publicado: (2021) -
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients
por: Tuupanen, Sari, et al.
Publicado: (2022) -
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
por: Scocchia, Alicia, et al.
Publicado: (2021)