Michael V Zaragoza
Affiliation: University of California
- Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogenyMichael V Zaragoza
Center for Mitochondrial and Molecular Medicine and Genetics, University of California, Irvine, CA 92697, USA
Eur J Hum Genet 19:200-7. 2011....
- Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiologyMichael V Zaragoza
Center for Molecular and Mitochondrial Medicine and Genetics and the Department of Pediatrics, Division of Genetics and Metabolism, University of California, Irvine, California 92697 3940, USA
Curr Opin Pediatr 19:619-27. 2007..Understanding the genetics may depend on clarifying the distinctive diagnostic features and investigating the contribution of all known cardiomyopathy-causing genes with overlapping morphology...
- Mitochondrial DNA variant discovery and evaluation in human Cardiomyopathies through next-generation sequencingMichael V Zaragoza
Genetics and Metabolism Division, Pediatrics Department and Center for Mitochondrial and Molecular Medicine and Genetics, University of California Irvine, Irvine, California, United States of America
PLoS ONE 5:e12295. 2010..We hope that this will assist in the identification of mtDNA mutations and key genetic determinants for cardiomyopathy and mitochondrial disease...
- Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncleDiti Ronvelia
UC Irvine Cardiogenomics Program, University of California, Irvine, School of Medicine, Irvine, CA 92697 3940, USA
Mol Genet Metab 107:428-32. 2012..TAZ mutations also contribute to left ventricular noncompaction (LVNC), a cardiomyopathy characterized by loose, trabeculated myocardium...
- Adenine nucleotide translocase 1 deficiency results in dilated cardiomyopathy with defects in myocardial mechanics, histopathological alterations, and activation of apoptosisNupoor Narula
Center for Mitochondrial and Molecular Medicine and Genetics MAMMAG, University of California, Irvine, California, USA
JACC Cardiovasc Imaging 4:1-10. 2011....
- A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversionRamona Pop
Institute of Human Genetics and Anthropology, University of Freiburg, Germany
Hum Genet 117:43-53. 2005..This is, to our knowledge, the first report of mitotic gene conversion of a wild-type allele by a de novo mutant allele in humans...
- Mitochondrial Dysfunction & Noncompaction CardiomyopathyMICHAEL ZARAGOZA; Fiscal Year: 2007..Through the combination of supervised research, scientific exchange and selected coursework, the applicant will obtain the training necessary for a successful transition to an independent investigator. (End of Abstract) ..