Zobrazeno 1 - 10
of 370
pro vyhledávání: '"Reed E Pyeritz"'
For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world
Autor:
Sara B. Stephens, Sherene Shalhub, Nicholas Dodd, Jesse Li, Michael Huang, Seitaro Oda, Kalyan Kancherla, Tam T. Doan, Siddharth K. Prakash, Justin D. Weigand, Federico M. Asch, Taylor Beecroft, Alana Cecchi, Teniola Shittu, Liliana Preiss, Scott A. LeMaire, Richard B. Devereux, Reed E. Pyeritz, Kathryn W. Holmes, Mary J. Roman, Ronald V. Lacro, Ralph V. Shohet, Rajesh Krishnamurthy, Kim Eagle, Peter Byers, Dianna M. Milewicz, Shaine A. Morris
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 19 (2023)
Background Arterial tortuosity is associated with adverse events in Marfan and Loeys‐Dietz syndromes but remains understudied in Vascular Ehlers‐Danlos syndrome. Methods and Results Subjects with a pathogenic COL3A1 variant diagnosed at age
Externí odkaz:
https://doaj.org/article/baafb229fe084535a00ef7c97ecf8d3c
Autor:
Asvin M. Ganapathi, David N. Ranney, Mark D. Peterson, Mark E. Lindsay, Himanshu J. Patel, Reed E. Pyeritz, Santi Trimarchi, Stuart Hutchison, Kevin M. Harris, Kevin L. Greason, Takeyoshi Ota, Daniel G. Montgomery, Christoph A. Nienaber, Kim A. Eagle, Eric M. Isselbacher, G. Chad Hughes
Publikováno v:
Journal of the American College of Cardiology. 79:1890-1897
Autor:
Kathryn W. Holmes, Sheila Markwardt, Kim A. Eagle, Richard B. Devereux, Jonathan W. Weinsaft, Federico M. Asch, Scott A. LeMaire, Cheryl L. Maslen, Howard K. Song, Dianna M. Milewicz, Siddharth K. Prakash, Dongchuan Guo, Shaine A. Morris, Reed E. Pyeritz, Rita C. Milewski, William J. Ravekes, H.C. Dietz, Ralph V. Shohet, Michael Silberbach, Mary J. Roman
Publikováno v:
Journal of the American College of Cardiology. 79:2069-2081
Autor:
Reed E. Pyeritz
Publikováno v:
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ISBN: 9780128125342
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93336531912723a679d9d20aaa5f448d
https://doi.org/10.1016/b978-0-12-812534-2.00011-4
https://doi.org/10.1016/b978-0-12-812534-2.00011-4
Autor:
Merrill D. Benson, Dervla M. Connaughton, David J. Friedman, David Ginsburg, Friedhelm Hildebrandt, Hannu Jalanko, Helena Kääriäinen, Selina M. Luger, Jennifer J.D. Morrissette, Michal Mrug, Scott Peslak, Martin R. Pollak, Reed E. Pyeritz, Frederic Rahbari Oskoui, Dana V. Rizk, Jacquelyn J. Roth, Takamitsu Saigusa, Farzana Sayani, Jordan A. Shavit, Edward A. Stadtmauer, Kathleen E. Sullivan, Angela C. Weyand
Publikováno v:
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ISBN: 9780128125342
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5144c4db52adeed5230d83168608509f
https://doi.org/10.1016/b978-0-12-812534-2.01002-x
https://doi.org/10.1016/b978-0-12-812534-2.01002-x
Autor:
Reed E. Pyeritz
Publikováno v:
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ISBN: 9780128125342
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f6797bf3c228fa3173b645e92bf6d49
https://doi.org/10.1016/b978-0-12-812534-2.00008-4
https://doi.org/10.1016/b978-0-12-812534-2.00008-4
Autor:
Kevin E.C. Meyers, Susan L. Furth, Sonya Lopez, Jessica Gold, Jacqueline Leonard, Elaine H. Zackai, Lauren Galea, Stacey Drant, Wendy Hsiao, Alanna Strong, Sandra Amaral, Nina B. Gold, Cara M. Skraban, Reed E. Pyeritz
Publikováno v:
Am J Med Genet A
Heritable connective tissue disorders are a group of diseases, each rare, characterized by various combinations of skin, joint, musculoskeletal, organ, and vascular involvement. Although kidney abnormalities have been reported in some connective tiss
Autor:
Reed E. Pyeritz
Publikováno v:
Trends in Genetics. 37:711-716
As exacting as genetic and genomic testing have become, health professionals continue to encounter uncertainty in their applications to medical practice. As examining the human genome at more refined levels increases, so is the likelihood of encounte
Autor:
Ellen S, Regalado, Shaine A, Morris, Alan C, Braverman, Ellen M, Hostetler, Julie, De Backer, Ruosha, Li, Reed E, Pyeritz, Anji T, Yetman, Elena, Cervi, Sherene, Shalhub, Richmond, Jeremy, Scott, LeMaire, Maral, Ouzounian, Arturo, Evangelista, Catherine, Boileau, Guillaume, Jondeau, Dianna M, Milewicz
Publikováno v:
Scientia
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
Pathogenic variant; Precision medicine; Thoracic aortic aneurysm Variante patógena; Medicina de precisión; Aneurisma de la aorta torácica Variant patògena; Medicina de precisió; Aneurisma de l'aorta toràcica Background Pathogenic variants in 11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d1dd047cab74d5e5924d446265fa06c
https://hdl.handle.net/11351/8431
https://hdl.handle.net/11351/8431