Zobrazeno 1 - 10
of 82
pro vyhledávání: '"P. L. McBride"'
Autor:
Maximilian A. Selbst, Colin R. Ward, Megan L. Svetgoff, Hector I. Michelena, Anna Sabate-Rotes, Julie De Backer, Laura Muiño Mosquera, Anji T. Yetman, Malenka M. Bissell, Maria Grazia Andreassi, Ilenia Foffa, Dawn S. Hui, Anthony Caffarelli, Yuli Y. Kim, Dongchuan Guo, Rodolfo Citro, Margot De Marco, Justin T. Tretter, Shaine A. Morris, Kim L. McBride, Simon C. Body, Siddharth K. Prakash
Publikováno v:
Hearts, Vol 5, Iss 3, Pp 253-258 (2024)
Bicuspid aortic valve (BAV) is the most common congenital heart malformation in adults, but it can also cause childhood-onset complications. The presentation and clinical course of young adults who present due to BAV complications are relatively unch
Externí odkaz:
https://doaj.org/article/5648bbbc963b4790a6094237ffd36854
Autor:
Kira Mascho, Svetlana A. Yatsenko, Cecilia W. Lo, Xinxiu Xu, Jennifer Johnson, Lindsey R. Helvaty, Stephanie Burns Wechsler, Chaya N. Murali, Seema R. Lalani, Vidu Garg, Jennelle C. Hodge, Kim L. McBride, Stephanie M. Ware, Jiuann-Huey Ivy Lin
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with congenital heart defects. We investigated the association between left outflow tract obstruction a
Externí odkaz:
https://doaj.org/article/2ea28b86dde34d79982956d3247450a9
Autor:
Mohammad Kermansaravi, Sonja Chiappetta, Chetan Parmar, Scott A. Shikora, Gerhard Prager, Teresa LaMasters, Jaime Ponce, Lilian Kow, Abdelrahman Nimeri, Shanu N. Kothari, Edo Aarts, Syed Imran Abbas, Ahmad Aly, Ali Aminian, Ahmad Bashir, Estuardo Behrens, Helmuth Billy, Miguel A. Carbajo, Benjamin Clapp, Jean-Marc Chevallier, Ricardo V. Cohen, Jerome Dargent, Bruno Dillemans, Silvia L. Faria, Manoel Galvao Neto, Pierre Y. Garneau, Khaled Gawdat, Ashraf Haddad, Mohamad Hayssam ElFawal, Kelvin Higa, Jaques Himpens, Farah Husain, Matthew M. Hutter, Kazunori Kasama, Radwan Kassir, Amir Khan, Mousa Khoursheed, Matthew Kroh, Marina S. Kurian, Wei-Jei Lee, Ken Loi, Kamal Mahawar, Corrigan L. McBride, Hazem Almomani, John Melissas, Karl Miller, Monali Misra, Mario Musella, C. Joe Northup, Mary O’Kane, Pavlos K. Papasavas, Mariano Palermo, Richard M. Peterson, Ralph Peterli, Luis Poggi, Janey S. A. Pratt, Aayad Alqahtani, Almino C. Ramos, Karl Rheinwalt, Rui Ribeiro, Ann M. Rogers, Bassem Safadi, Paulina Salminen, Sergio Santoro, Nathaniel Sann, John D. Scott, Asim Shabbir, Stephanie Sogg, Erik Stenberg, Michel Suter, Antonio Torres, Surendra Ugale, Ramon Vilallonga, Cunchuan Wang, Rudolf Weiner, Natan Zundel, Luigi Angrisani, Maurizio De Luca
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Metabolic and bariatric surgery (MBS) is widely considered the most effective option for treating obesity, a chronic, relapsing, and progressive disease. Recently, the American Society of Metabolic and Bariatric Surgery (ASMBS) and the Inter
Externí odkaz:
https://doaj.org/article/d11a127484f24f42a7a29a6327c26a74
Autor:
Steven G Carlisle, Hasan Albasha, Hector I Michelena, Anna Sabate-Rotes, Lisa Bianco, Julie De Backer, Laura Muiño Mosquera, Anji T Yetman, Malenka M Bissell, Maria Grazia Andreassi, Ilenia Foffa, Dawn S Hui, Anthony Caffarelli, Yuli Y Kim, Dongchuan Guo, Rodolfo Citro, Margot De Marco, Justin T Tretter, Kim L McBride, Dianna M Milewicz, Simon C Body, Siddharth K Prakash, EBAV Investigators, BAVCon Investigators
Publikováno v:
PLoS ONE, Vol 19, Iss 9, p e0304514 (2024)
Bicuspid aortic valve (BAV), the most common congenital heart defect, is a major cause of aortic valve disease requiring valve interventions and thoracic aortic aneurysms predisposing to acute aortic dissections. The spectrum of BAV ranges from early
Externí odkaz:
https://doaj.org/article/242c32ad450e4d989ceb2ddbfe7c7ae9
Autor:
Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. Shaw, Paul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100232- (2023)
Summary: Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves. HLHS represents only ∼4%–8% of a
Externí odkaz:
https://doaj.org/article/02c4caf366fb4060935dbf5c314b1e69
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:
Mary Kay Koenig, Sam Nick Russo, Kim L. McBride, Hans Tomas Bjornsson, Brynja Bjork Gunnarsdottir, Amy Goldstein, Scott A. Falk
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 65-70 (2023)
Abstract Several mitochondrial diseases are caused by pathogenic variants that impair membrane phospholipid remodeling, with no FDA‐approved therapies. Elamipretide targets the inner mitochondrial membrane where it binds to cardiolipin, resulting i
Externí odkaz:
https://doaj.org/article/2a1b65d79cfc44da9295673fe3a0a559
Autor:
Camila F. Almeida, Florence Robriquet, Tatyana A. Vetter, Nianyuan Huang, Reid Neinast, Lumariz Hernandez-Rosario, Dhanarajan Rajakumar, W. David Arnold, Kim L. McBride, Kevin M. Flanigan, Robert B. Weiss, Nicolas Wein
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults and affects mainly the skeletal muscle, heart, and brain. DM1 is caused by a CTG repeat expansion in the 3′UTR region of the DMPK gene that sequesters musclebli
Externí odkaz:
https://doaj.org/article/64f77f1950614b9e88620a368751f95d
Autor:
Kezzia S Jones, Amanda E Chapman, Holland A Driscoll, Emily P Fuller, Meghan Kelly, Xiaofeng Li, Sourour Mansour, Shannon L McBride, Qi Zhao, Michael Weiner, Mary R Ferguson
Publikováno v:
BioTechniques, Vol 72, Iss 1, Pp 11-20 (2022)
Antibody (Ab) validation is the procedure in which an Ab is thoroughly assayed for sensitivity and specificity in a given application. Validation of Abs against post-translationally modified (PTM) targets is particularly challenging because it requir
Externí odkaz:
https://doaj.org/article/8fe309d3354e4e638192bfd10762466f
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