Results 141 to 150 of about 9,138 (204)

Correction of MYBPC3 c.772G>A Splice-Site Mutation by Base Editing Ameliorates Hypertrophic Cardiomyopathy in Humanized Mice. [PDF]

Circ Res
Zhang Y, Jiao S, Yang G, Wang J, Yang X, Li Z.   +5 more
europepmc   +1 more source

A case report of a Chinese patient with obstructive hypertrophic cardiomyopathy harboring rare variants in both the MYBPC3 and DSP genes. [PDF]

Front Cardiovasc Med
Wu XY, Ren N, Geng J.
europepmc   +1 more source

Erratum to: How do MYBPC3 mutations cause hypertrophic cardiomyopathy? [PDF]

Journal of Muscle Research and Cell Motility, 2011
Steven Marston, O’Neal Copeland, Katja Gehmlich, Saskia Schlossarek, Lucie Carrier   +4 more
openaire   +1 more source

Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort. [PDF]

Int J Mol Sci
Šukys M, Ereminienė E, Aleknavičienė K, Jonikas R, Tamulėnaitė-Stuokė E, Ažukaitė J, Ugenskienė R.   +6 more
europepmc   +1 more source

Case Report: Lethal neonatal hypertrophic cardiomyopathy from compound heterozygous <i>MYBPC3</i> variants. [PDF]

Front Cardiovasc Med
Wang J, Hong L, Li Y, Mao Z, Zhu Y, Qi M, Zhou R, Hong X.   +7 more
europepmc   +1 more source

Systemic Metabolic Rewiring in a Mouse Model of Left Ventricular Hypertrophy. [PDF]

Int J Mol Sci
Schmidt AV, Thambidurai T, D'Annibale O, Bharathi SS, Wood T, Goetzman ES, Stelzer JE.   +6 more
europepmc   +1 more source

First-in-human study of TN-201, an AAV9 gene replacement therapy in MYBPC3-associated hypertrophic cardiomyopathy: initial safety, pharmacodynamic, and imaging results from MyPEAK-1. [PDF]

Cardiovasc Res
Desai MY, Nagueh SF, Giudicessi JR, Previs MJ, Kellner D, Pollman MJ, Varfaj F, Robertson LA, Sonicheva-Paterson N, Pushkin R, Mangal B, Tomlinson L, Harrison WG, Yamamoto L, Argast G, Lombardi LM, Ivey KN, Tingley WG.   +17 more
europepmc   +1 more source

Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations. [PDF]

Hum Mutat
Caroselli S, Corona G, Fabiani M, Manzoni M, Micolonghi C, Savio C, Germani A, Bragliola S, Maselli V, Rubattu S, Musumeci B, Tini G, Visco V, Petrucci S, Novelli V, Piane M.   +15 more
europepmc   +1 more source

A case report in hypertrophic cardiomyopathy in a recreational athlete: multimodality risk assessment, genetic insights, and shared decision-making. [PDF]

Eur Heart J Case Rep
Gomez LE, Aversa E, Saenz Tejeira MM, Buonfiglio P, Atamañuk N.   +4 more
europepmc   +1 more source

Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program [PDF]

, 2012
Ayad, MS, Azer, RS, Cecchi, F, Elguindy, A, Kassem, HS, Magdy, G, Moharem-Elgamal, S, Olivotto, I, Yacoub, MH   +8 more
core   +2 more sources