Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation-Reference-Cited by-同舟云学术

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Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation

Published:2013-08-16 Issue:12 Volume:161 Page:3187-3190
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bettinelli Audra L.¹,Mulder Theodorus J.²,Funke Birgit H.³,Lafferty Katherine A.³,Longo Sherri A.⁴,Niyazov Dmitriy M.¹

Affiliation:

1. Medical Genetics Department; Ochsner Clinic Foundation; New Orleans Louisiana

2. Pediatric Cardiology Department; Ochsner Clinic Foundation; New Orleans Louisiana

3. Laboratory for Molecular Medicine; Cambridge Massachusetts

4. Maternal Fetal Medicine Department; Ochsner Clinic Foundation; New Orleans Louisiana

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36182/fullpdf

Reference22 articles.

1. Images in cardiovascular medicine. Ebstein anomaly associated with left ventricular noncompaction;Bagur;Circulation,2008

2. Familial Ebstein's anomaly: A report of six cases in two generations associated with mild skeletal abnormalities;Balaji;Br Heart J,1991

3. Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene;Budde;PLoS ONE,2007

4. Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation;Dellefave;Circ Cardiovasc Genet,2009

5. Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1;Digilio;Am J Med Genet Part A,2011

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1. Ebstein Anomaly and Tricuspid Valve Dysplasia;Pediatric Cardiology;2024

2. Human Genetics of Ventricular Septal Defect;Advances in Experimental Medicine and Biology;2024

3. Altered contractility, Ca²⁺ transients, and cell morphology seen in a patient-specific iPSC-CM model of Ebstein’s anomaly with left ventricular noncompaction;American Journal of Physiology-Heart and Circulatory Physiology;2023-07-01

4. MYH7 in cardiomyopathy and skeletal muscle myopathy;Molecular and Cellular Biochemistry;2023-04-20

5. Ebstein Anomaly and Tricuspid valve Dysplasia;Pediatric Cardiology;2023

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