Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Alexander J. Van Riper"'
Autor:
Tzipora C Falik-Zaccai, Arthur S. Aylsworth, John B. Moeschler, Mark Gerstein, Lisa G. Shaffer, Siegfried M. Pueschel, Monika Y. Cohen, Sherman M. Weissman, Dorothy Warburton, Tal Tirosh-Wagner, Maya Kasowski, Eric M. Sobel, Robin D. Clark, Ken Lange, Barbara McGillivray, Michael Snyder, Kathleen W. Rao, Gillian M. Barlow, Julie R. Korenberg, Mark J. Pettenati, Michael C. Gao, Alexander J. Van Riper, Fabian Grubert, Jan O. Korbel, Chandra Erdman, Ira T. Lott, Mordechai Shohat, Susan O. Lewin, Xiao Ning Chen, Eric Doran, Alexander E. Urban, Li Dai, Nancy J. Carpenter
Publikováno v:
Proceedings of the National Academy of Sciences. 106:12031-12036
Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although several hypotheses have been put forward, it is unclear as to whether particular gene loci on chromosome 21 (HSA21) are sufficient t
Autor:
Julie R. Korenberg, Zheng Y. Shi, Livija Celle, Alexander J. Van Riper, Elaine H. Zackai, Nancy B. Spinner, Michael J. Vekemans, David M. Kurnit, Gillian M. Barlow, Xiao Ning Chen, Mark J. Pettenati, Gary E. Lyons, Corey H. Mjaatvedt
Publikováno v:
Genetics in Medicine. 3:91-101
Purpose: Down syndrome (DS) is a major cause of congenital heart disease (CHD) and the most frequent known cause of atrioventricular septal defects (AVSDs). Molecular studies of rare individuals with CHD and partial duplications of chromosome 21 esta