A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome.

Autor: Singh HR; Department of Pediatrics, Division of Cardiology, Children's Hospital of Michigan, The Carman and Ann Adams, Wayne State University School of Medicine, Detroit, Michigan, USA., Yang Z, Siddiqui S, Peña LS, Westerfield BH, Fan Y, Towbin JA, Vatta M

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2009 May; Vol. 149A (5), pp. 1082-5.

Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.

Autor: Novelli, Valeria, Bisignani, Antonio, Pelargonio, Gemma, Primiano, Guido, Narducci, Maria Lucia, Palmieri, Vincenzo, Tiziano, Francesco Danilo, Zeppilli, Paolo, Servidei, Serenella, Crea, Filippo, Genuardi, Maurizio

Publikováno v: BMC Cardiovascular Disorders; 4/5/2020, Vol. 20 Issue 1, p1-5, 5p, 2 Color Photographs, 1 Diagram, 1 Graph

Danon Disease.

Autor: D’souza, Ryan S., Levandowski, Cecilia, Slavov, Dobromir, Graw, Sharon L., Allen, Larry A., Adler, Eric, Mestroni, Luisa, Taylor, Matthew R.G.

Publikováno v: Circulation: Heart Failure; Sep2014, Vol. 7 Issue 5, p843-849, 7p

On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

Autor: Cooper, David N., Bacolla, Albino, Férec, Claude, Vasquez, Karen M., Kehrer-Sawatzki, Hildegard, Chen, Jian-Min

Publikováno v: Human Mutation; Oct2011, Vol. 32 Issue 10, p1075-1099, 25p

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics : Foundations

Autor: Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world