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Literature DB >> 30447714

Genetic Testing and Counseling for Hypertrophic Cardiomyopathy.

Allison L Cirino¹, Christine E Seidman², Carolyn Y Ho³.

Abstract

Genetic testing has become more accessible and is increasingly being incorporated into the care of patients with hypertrophic cardiomyopathy. Genetic test results can help to refine diagnosis and distinguish at-risk relatives from those who are not at risk.

Entities: Disease Species

Keywords: Genetic counseling; Genetic testing; Hypertrophic cardiomyopathy; Pedigree

Mesh：

Year: 2018 PMID： 30447714 DOI： 10.1016/j.ccl.2018.08.003

Source DB: PubMed Journal: Cardiol Clin ISSN： 0733-8651 Impact factor: 2.213

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Cited

5 in total

1. A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.

Authors: Joseph Park; Elizabeth A Packard; Michael G Levin; Renae L Judy; Scott M Damrauer; Sharlene M Day; Marylyn D Ritchie; Daniel J Rader
Journal: Hum Mol Genet Date: 2022-03-03 Impact factor: 5.121

2. Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes.

Authors: Liam Aspit; Noga Arwas; Hanna Krymko; Yoram Etzion; Ruti Parvari; Aviva Levitas
Journal: J Pediatr Genet Date: 2020-11-19

Genetic Testing and Counseling for Hypertrophic Cardiomyopathy.

1. A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.

2. Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes.

3. [Meaningful diagnostics: genetics].

4. Dysfunctional Network and Mutation Genes of Hypertrophic Cardiomyopathy.

5. Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigree.