Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jessica Tusi"'
Autor:
Bret L. Bostwick, Scott McLean, Jennifer E. Posey, Haley E. Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K. Grange, Marisa V. Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L. Jefferies, Members of the Undiagnosed Diseases Network, Jill A. Rosenfeld, Lisa Emrick, Kimberly M. Nugent, James R. Lupski, John W. Belmont, Brendan Lee, Seema R. Lalani
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-9 (2017)
Abstract Background De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the
Externí odkaz:
https://doaj.org/article/9e8b3e6b6e104c55b95b2eb2877f0f28
Autor:
Susan Brammah, Honey Nagakura, Christopher T. Gordon, Laurence Hubert, Andrea M. Lewis, Renee Carroll, Richard H. Scott, Alexandrine Garrigue, Melanie Leffler, Jozef Gecz, Michael Field, Lucinda Murray, Sarah Risen, Seema R. Lalani, Marie Shaw, Geneviève de Saint Basile, Augusto Rendon, Raman Kumar, Tracy Dudding-Byth, LaDonna Immken, Patrick Nitschké, Arnold Munnich, Jeanne Amiel, Mark J. Cowley, Judy Spies, Bronwyn Kerr, Myriam Oufadem, Nina Powell-Hamilton, Claude Besmond, John D. Pollard, Emma Kivuva, Christine Bole-Feysot, William G. Newman, Jill A. Rosenfeld, Elizabeth E. Palmer, Jessica Tusi, Allison Tam, Richard Webster, Francesca Filippini, Marlène Rio, André E. Minoche, Fan Xia
Publikováno v:
Kumar, R, Gordon, C T, Shaw, M, Hubert, L, Carroll, R, Rio, M, Murray, L, Leffler, M, Dudding-Byth, T, Oufadem, M, Lalani, S R, Lewis, A M, Xia, F, Tam, A, Webster, R, Brammah, S, Filippini, F, Spies, J, Minoche, A E, Cowley, M J, Risen, S, Powell-Hamilton, N N, Tusi, J E, Immken, L, Nagakura, H, Bole-Feysot, C, Nitschké, P, Garrigue, A, de Saint Basile, G, Kivuva, E, Rendon, A, Munnich, A, Newman, W, Kerr, B, Besmond, C, Rosenfeld, J A, Amiel, J, Gecz, J & DDD Study 2017, ' A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations ', American Journal of Human Genetics, vol. 101, no. 6, pp. 995-1005 . https://doi.org/10.1016/j.ajhg.2017.10.009
A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef7205c54a2bbf1a7d269eb67f24228
https://www.research.manchester.ac.uk/portal/en/publications/a-recurrent-de-novo-nonsense-variant-in-zswim6-results-in-severe-intellectual-disability-without-frontonasal-or-limb-malformations(87987c4f-208a-4091-b33d-86b418060ef2).html
https://www.research.manchester.ac.uk/portal/en/publications/a-recurrent-de-novo-nonsense-variant-in-zswim6-results-in-severe-intellectual-disability-without-frontonasal-or-limb-malformations(87987c4f-208a-4091-b33d-86b418060ef2).html
Autor:
James T. Bennett, Deborah L. Stabley, William B. Dobyns, Laura A. Baker, Katia Sol-Church, Nina Powell-Hamilton, Andrew E. Timms, Karen W. Gripp, Kimberly A. Aldinger, Jessica Tusi
Publikováno v:
American journal of medical genetics. Part A. 170(9)
Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype-phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is charac
Autor:
Jennifer Garbarini, Dianne Gallagher, Meghan K Mac Neal, Michelle Olive, Josée Dupuis, Emma Marquez, Jessica Tusi, Bruce D. Gelb, Mike Italia, Laura E. Mitchell, Roger E. Breitbart, Elaine Mardis, Lynn A. Sleeper, Gail D. Pearson, Nhu Tran, Cassie Mintz, Elizabeth Goldmuntz, Rosalind Korsin, Kristin E. Burns, Joel H. Saltz, Inga Peter, Denise Guevara, Stacy Woyciechowski, Howard S. Seiden, Hakon Hakonarson, Christine Beiswanger, Hector R. Wong, Steven D. Colan, Kimberly Dandreo, James Bristow, Davina Etwaru, Ellen Rosenberg, Ariel Julian, Jeffrey Botkin, George A. Porter, Richard B. Kim, Jennie Kline, Peter White, Christina Kendziorski, Barbara McDonough, Ismee A. Williams, Nancy Stellato, Ravi Sachidanandam, Clinical Sites, Vidu Garg, Minmin Lu, Katrina Celia, John E. Deanfield, Charlene Schramm, Dorothy Warburton, Juan Pablo Kaski, Amy E. Roberts, Maria M. Brooks, Abigail Wilpers, Martina Brueckner, Christine E. Seidman, Alyssa Lanz, Jeffrey C. Murray, Dorit Berlin, Jonathan R. Kaltman, Todd Evans, Judith Geva, Karen Flack, Sharon Edman, Angela Monafo, Jane Newburger, Jonathan G. Seidman, Angela Romano-Adesman, Eileen Taillie, Laura Mercer-Rosa, Janice Stryker, Jaswinder Kaur Sond, Nancy Cross, Sharon Tennstedt, Roslyn Yee, Michael S. Watson, Danielle Awad, Dorota Gruber, Richard P. Lifton, Alessandro Giardini, Wendy K. Chung
Publikováno v:
Circulation research. 112(4)
Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions a