Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Abby K. Stevens"'
Autor:
Abby K. Stevens, Pawel Stankiewicz, Amy M. Breman, Aleksandar Milosavljevic, Carlos A. Bacino, Tomasz Gambin, Lindsay E. Elton, Satish Agadi, Christian P. Schaaf, Jill A. Rosenfeld, Lisa Ximena Rodríguez Rojas, Sung Hae L. Kang, David Francis, Daryl A. Scott, Michael Y. Divon, Sau Wai Cheung, James R. Lupski, Piotr Dittwald, Stephen Amato, Anna Gambin, Ankita Patel, Chad A. Shaw, Jian Li, Wilfredo Torres-Martinez, Seema R. Lalani, Przemyslaw Szafranski, Weimin Bi, Arthur L. Beaudet
Publikováno v:
Genome Research. 23:1395-1409
We delineated and analyzed directly oriented paralogous low-copy repeats (DP-LCRs) in the most recent version of the human haploid reference genome. The computationally defined DP-LCRs were cross-referenced with our chromosomal microarray analysis (C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1a8a0b9a024f3e8b77e2804316b66e4
https://doi.org/10.1101/gr.152454.112
https://doi.org/10.1101/gr.152454.112
Publikováno v:
Clinical Dysmorphology. 21:218-221
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb310e762fa9c9f59239e091ae8e6736
https://doi.org/10.1097/mcd.0b013e3283590ac5
https://doi.org/10.1097/mcd.0b013e3283590ac5
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:
Kenneth E. White, David D. Weaver, Paula Delk, Jessica L. Roberts, Emily G. Farrow, Abby K. Stevens, Wilfredo Torres-Martinez
Publikováno v:
American journal of medical genetics. Part A. (2)
In this report, we describe an 8-year-old male with Robin sequence, bilateral radiohumeral synostosis, microgastria, cryptorchidism, dislocated hips, proximal femoral deficiency, and an autism spectrum disorder. This combination of findings has not b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d381c1aa15a1d2bddf3bbaf5dae4aab8
https://pubmed.ncbi.nlm.nih.gov/24311538
https://pubmed.ncbi.nlm.nih.gov/24311538