Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Sheila J. Upton"'
Autor:
John B. Moeschler, Seema R. Lalani, Lisa G. Shaffer, Brett H. Graham, Sau Wai Cheung, Sheila J. Upton, Sung-Hae L. Kang, Gretchen Von Allmen, Jill A. Rosenfeld, Przemyslaw Szafranski, Weimin Bi, Jose A. Ferreira, Angus A. Wilfong, Pawel Stankiewicz
Publikováno v:
European Journal of Human Genetics. 23:173-179
Genomic copy-number variations (CNVs) constitute an important cause of epilepsies and other human neurological disorders. Recent advancement of technologies integrating genome-wide CNV mapping and sequencing is rapidly expanding the molecular field o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::531db3cea5adcf36f2f4d3e1d1e6247a
https://doi.org/10.1038/ejhg.2014.75
https://doi.org/10.1038/ejhg.2014.75
Autor:
Bernice E. Morrow, Cynthia J. Curry, Robert W. Marion, Cynthia M. Powell, Sheila J. Upton, Elaine Pereira, Eva Andermann, Arthur S. Aylsworth, Abby K. Stevens, Lisa G. Shaffer, Bryce A. Heese, Frederick Andermann, John B. Moeschler, Dina Amrom, Blake C. Ballif, Melissa K. Maisenbacher, Allen N. Lamb, Kandamurugu Manickam, Melanie Babcock, Trilochan Sahoo, Martin Veilleux, Jill A. Rosenfeld, Jay W. Ellison, Cathy A. Stevens, Alex R. Paciorkowski, Wilfredo Torres-Martinez, Jamie Fisher
Publikováno v:
neurogenetics. 13:31-47
Interstitial deletions of 6q are associated with variable phenotypes, including growth retardation, dysmorphic features, upper limb malformations, and Prader-Willi (PW)-like features. Only a minority of cases in the literature have been characterized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::651b71366c3f3cd38b25310b22f8eab9
https://doi.org/10.1007/s10048-011-0306-5
https://doi.org/10.1007/s10048-011-0306-5
Autor:
Blake C. Ballif, Maria Descartes, Joyce E. Fox, J. Britt Ravnan, Tracy Stroud, Sheila J. Upton, Jerome L. Gorski, Fallon Brewer, Nicholas J. Neill, Jill A. Rosenfeld, Lisa G. Shaffer, John B. Moeschler, Allen N. Lamb, Berrin Monteleone
Publikováno v:
American journal of medical genetics. Part A. (2)
Uniparental disomy (UPD) for imprinted chromosomes can cause abnormal phenotypes due to absent or overexpression of imprinted genes. UPD(14)pat causes a unique constellation of features including thoracic skeletal anomalies, polyhydramnios, placentom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c33feb70be4a2e17a05524877c6d5ce0
https://pubmed.ncbi.nlm.nih.gov/25756153
https://pubmed.ncbi.nlm.nih.gov/25756153