Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Liana S. Peña"'
Autor:
Matteo Vatta, Brandy H. Westerfield, Yuxin Fan, Brenda Wong, Zhao Yang, Jaquelin Varela, Ronald J. Kanter, G. Wesley Vick, Birgit Funke, Linda H. Cripe, Debora Mancini-Dinardo, Jeffrey A. Towbin, Liana S. Peña
Publikováno v:
Circulation: Cardiovascular Genetics. 3:129-137
Background—Danon disease is an X-linked dominant disorder characterized by the clinical triad of hypertrophic cardiomyopathy, skeletal myopathy, and variable mental retardation. Pathologically, autophagic vacuoles are noted in both skeletal and car
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f9ddfd8bacab06347a988e79e2814e
https://doi.org/10.1161/circgenetics.109.901785
https://doi.org/10.1161/circgenetics.109.901785
Autor:
Hu Wang, Liana S. Peña, Raymond Y. Wang, Sunita Bhuta, Edward R. B. Mccabe, Richard Chang, Brandy A. Westerfield, Wim Kulik, Daniel J. Penny, Virginia Kimonis, Anjan S. Batra, Natalie M. Gallant, Michelle Fox, Taosheng Huang, Iris L. Gonzalez, Yuxin Fan, Jon G. Steller
Publikováno v:
JIMD Reports ISBN: 9783642373275
Barth syndrome is an X-linked recessive disorder characterized by dilated cardiomyopathy, neutropenia, 3-methylglutaconic aciduria, abnormal mitochondria, variably expressed skeletal myopathy, and growth delay. The disorder is caused by mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efb26b899d60766cd0c3a2d171ccc7a0
https://pubmed.ncbi.nlm.nih.gov/23606313
https://pubmed.ncbi.nlm.nih.gov/23606313
Autor:
Yuxin Fan, Saad Siddiqui, Matteo Vatta, Liana S. Peña, Jeffrey A. Towbin, Brandy H. Westerfield, Harinder R. Singh, Zhao Yang
Publikováno v:
American journal of medical genetics. Part A. (5)
A Novel Alu-Mediated Xq28 Microdeletion Ablates TAZ and Partially Deletes DNL1L in a Patient With Barth Syndrome Harinder R. Singh, Zhao Yang, Saad Siddiqui, Liana S. Pe~na, Brandy H. Westerfield, Yuxin Fan, Jeffrey A. Towbin, and Matteo Vatta* Child
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8577a9c3146802d7995651cf318b5ba7
https://pubmed.ncbi.nlm.nih.gov/19396829
https://pubmed.ncbi.nlm.nih.gov/19396829