Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort.
Melendo-Viu M et al.
Open Heart, 2024
Epigenetic Study of Cohort of Monozygotic Twins With Hypertrophic Cardiomyopathy Due to MYBPC3 (Cardiac Myosin-Binding Protein C).
Peñarroya A et al.
Journal of the American Heart Association, 2024
Phenotypic spectrum of the first Belgian MYBPC3 founder: a large multi-exon deletion with a varying phenotype.
Boen HM et al.
Frontiers in Genetics, 2024
Different Phenotypes in Monozygotic Twins, Carriers of the Same Pathogenic Variant for Hypertrophic Cardiomyopathy.
Rodríguez Junquera M et al.
Life (basel, Switzerland), 2022
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Insights Into Hypertrophic Cardiomyopathy Evaluation Through Follow-up of a Founder Pathogenic Variant.
Lorca R et al.
Revista Espanola De Cardiologia (english Ed.), 2019
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J et al.
Circulation. Cardiovascular Genetics, 2017
The Ups and Downs of Genetic Diagnosis of Hypertrophic Cardiomyopathy.
Gómez J et al.
Revista Espanola De Cardiologia (english Ed.), 2016
Hypertrophic cardiomyopathy and left ventricular non-compaction: Different manifestations of the same cardiomyopathy spectrum?
Lorca R et al.
International Journal of Cardiology, 2015
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.
Gómez J et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2014
The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain).
Reguero JR et al.
International Journal of Cardiology, 2013
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.
Coto E et al.
The Journal of Molecular Diagnostics : Jmd, 2012