Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Gabrielle C. Geddes"'
Autor:
Benjamin J. Landis, Lindsey R. Helvaty, Gabrielle C. Geddes, Jiuann‐Huey Ivy Lin, Svetlana A. Yatsenko, Cecilia W. Lo, William L. Border, Stephanie Burns Wechsler, Chaya N. Murali, Mahshid S. Azamian, Seema R. Lalani, Robert B. Hinton, Vidu Garg, Kim L. McBride, Jennelle C. Hodge, Stephanie M. Ware
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 18 (2023)
Background Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with CMA abnormalities have been inconsistent, which ma
Externí odkaz:
https://doaj.org/article/3ce4e66e20b2416085e8144a51318ce2
Autor:
Thomas G. Saba, Gabrielle C. Geddes, Stephanie M. Ware, David N. Schidlow, Pedro J. del Nido, Nathan S. Rubalcava, Samir K. Gadepalli, Terri Stillwell, Anne Griffiths, Laura M. Bennett Murphy, Andrew T. Barber, Margaret W. Leigh, Necia Sabin, Adam J. Shapiro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-17 (2022)
Abstract Heterotaxy (HTX) is a rare condition of abnormal thoraco-abdominal organ arrangement across the left–right axis of the body. The pathogenesis of HTX includes a derangement of the complex signaling at the left–right organizer early in emb
Externí odkaz:
https://doaj.org/article/125085e92ac34c5c94ba5fe856bff840
Autor:
Matthew D. Durbin, Lindsey R. Helvaty, Ming Li, William Border, Sara Fitzgerald-Butt, Vidu Garg, Gabrielle C. Geddes, Benjamin M. Helm, Seema R. Lalani, Kim L. McBride, Alexis McEntire, Dana K. Mitchell, Chaya N. Murali, Stephanie B. Wechsler, Benjamin J. Landis, Stephanie M. Ware
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100814- (2023)
Purpose: For patients with congenital heart disease (CHD), the most common birth defect, genetic evaluation is not universally accepted, and current practices are anecdotal. Here, we analyzed genetic evaluation practices across centers, determined di
Externí odkaz:
https://doaj.org/article/6e7126e01ae843229c6b557e44a82b1c
Autor:
Benjamin J. Landis, Benjamin M. Helm, Jeremy L. Herrmann, Madeline C. Hoover, Matthew D. Durbin, Lindsey R. Elmore, Manyan Huang, Michael Johansen, Ming Li, Leon F. Przybylowski, Gabrielle C. Geddes, Stephanie M. Ware
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 19 (2022)
Background Our cardiac center established a systematic approach for inpatient cardiovascular genetics evaluations of infants with congenital heart disease, including routine chromosomal microarray (CMA) testing. This provides a new opportunity to inv
Externí odkaz:
https://doaj.org/article/40115732d18f4259bb543ce4c57ec276
Autor:
Sai Suma K. Samudrala, Lauren M. North, Karl D. Stamm, Michael G. Earing, Michele A. Frommelt, Richard Willes, Swarnendu Tripathi, Nikita R. Dsouza, Michael T. Zimmermann, Donna K. Mahnke, Huan Ling Liang, Michael Lund, Chien‐Wei Lin, Gabrielle C. Geddes, Michael E. Mitchell, Aoy Tomita‐Mitchell
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sar
Externí odkaz:
https://doaj.org/article/ed8ad7c0a377492894678df22c9a0dbc
Publikováno v:
Epilepsy & Behavior Reports, Vol 14, Iss , Pp 100340- (2020)
Externí odkaz:
https://doaj.org/article/f82d53b1735b40fea55039d1e9e8080b
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 1-4 (2018)
There is limited information regarding ideal dosage of alglucoside alfa in patients with Infantile Onset Pompe Disease (IOPD). The U.S. Food and Drug Administration approved alglucoside alfa at dosing of 20 mg/kg every other week, but there are small
Externí odkaz:
https://doaj.org/article/60809736fe424b0e8665b377ced8d495
Autor:
Erica R. Gross, Gabrielle C. Geddes, Julie A. McCarrier, Jason A. Jarzembowski, Marjorie J. Arca
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 3, Iss 4, Pp 143-145 (2015)
Skip segment Hirschsprung disease describes a segment of ganglionated bowel between two segments of aganglionated bowel. It is a rare phenomenon that is difficult to diagnose. We describe a recent case of skip segment Hirschsprung disease in a neonat
Externí odkaz:
https://doaj.org/article/47cf8b3f653e4d059a868eb284c76f85
Autor:
Gabrielle C. Geddes, John J. Parent, Julie Lander, Aamir Jeewa, Stephanie M. Ware, Chet Villa, Kathryn C. Chatfield, K. Nicole Weaver
Publikováno v:
Journal of the American College of Cardiology. 81:1439-1441
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4e06e4753b4af7c69c82d698b3659db
https://doi.org/10.1016/j.jacc.2023.02.010
https://doi.org/10.1016/j.jacc.2023.02.010
Publikováno v:
American Journal of Medical Genetics Part A. 188:3126-3129
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e81130a35ff66d8eb993940954404415
https://doi.org/10.1002/ajmg.a.62937
https://doi.org/10.1002/ajmg.a.62937