Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Joanne M. Drautz"'
Autor:
Eric C. Liao, Tatiana Hoyos, Ian Blumenthal, James F. Gusella, Lea Velsher, Amelia M. Lindgren, Carrie Hanscom, Lisa G. Shaffer, Tania Pynn, Cynthia C. Morton, Michael E. Talkowski, Shahrin Pereira, Joris Vermeesch, Joanne M. Drautz, Carol L. Clericuzio, David J. Harris, Jill A. Rosenfeld, Colby Chiang, Zehra Ordulu, Carl Ernst
Publikováno v:
Human Genetics. 132:537-552
We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures, facial dysmorphi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02c3eaa35d4ba02944719f0cf59ee6cd
https://doi.org/10.1007/s00439-013-1263-x
https://doi.org/10.1007/s00439-013-1263-x
Autor:
Marzena Gajecka, Allen N. Lamb, Judith M. Martin, Bassem A. Bejjani, Salmo Raskin, Justyna A. Karolak, Dorota M. Nowak, Lisa G. Shaffer, Tom Cushing, Joanne M. Drautz, Raymond C. Tervo, Jill A. Rosenfeld, Blake C. Ballif, Jose A. Pitarque, Carol L. Clericuzio, Roger A. Schultz
Publikováno v:
American Journal of Medical Genetics Part A. 155:1906-1916
Although copy number changes of 5q31 have been rarely reported, deletions have been associated with some common characteristics, such as short stature, failure to thrive, developmental delay (DD)/intellectual disability (ID), club feet, dislocated hi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb7a0be9dc6ce3da923412045ebdfc7f
https://doi.org/10.1002/ajmg.a.34100
https://doi.org/10.1002/ajmg.a.34100
Autor:
Usha Kini, Cesare Danesino, Arupa Ganguly, Andreas Lux, Barbara A. Bernhardt, Douglas A. Marchuk, Reed E. Pyeritz, Johannes K Ploos van Amstel, Marie E. Faughnan, Kirk Vandezande, J. Deane Waldman, Sara Mazzucco, Carol L. Clericuzio, Nadia L. Prigoda-Lee, Arthur S. Aylsworth, Carol J. Gallione, Carla Olivieri, Zheng Fan, Jill Beis, Katharine J. Henderson, Joanne M. Drautz, Charles A. Williams, John Garvie, Robert I. White, Mark Ludman, Willie Reardon, Melissa K. Maisenbacher, Jeffrey Fahl, Tracey P. Leedom, Robin D. Clark, Terri Berk
Publikováno v:
American Journal of Medical Genetics Part A. :333-339
Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically distinct diseases caused by mutations in SMAD4 and BMPR1A (for JP) and endoglin and ALK1 (for HHT). Recently, a combined syndrome of JP-HHT was described that is a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8715243860145d186aa91e6681359c9
https://doi.org/10.1002/ajmg.a.33206
https://doi.org/10.1002/ajmg.a.33206
Publikováno v:
American Journal of Medical Genetics Part A. :2968-2970
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc506e6f273231c0ba57b9e69b08160f
https://doi.org/10.1002/ajmg.a.32539
https://doi.org/10.1002/ajmg.a.32539