Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kathryn N. Weaver"'
Autor:
Laura B. Oehlman, Alexander R. Opotowsky, Kathryn N. Weaver, Nicole M. Brown, Cara L. Barnett, Erin M. Miller, Hua He, Amy R. Shikany
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundCongenital heart disease (CHD) is the most common congenital anomaly. Up to 33% have an identifiable genetic etiology. Improved medical and surgical management of CHD has translated into longer life expectancy and a rapidly growing populati
Externí odkaz:
https://doaj.org/article/64f5d2e219ce43e6ae8b31bf3636e7ee
Autor:
Bianca E. Russell, Diana Rigueur, Kathryn N. Weaver, Kristen Sund, Janet S. Basil, Robert B. Hufnagel, Cynthia A. Prows, Alan Oestreich, Lihadh Al‐Gazali, Robert J Hopkin, Howard M. Saal, Karen Lyons, Andrew Dauber
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Abstract Background The bone morphogenetic protein (BMP) pathway is known to play an imperative role in bone, cartilage, and cardiac tissue formation. Truncating, heterozygous variants, and deletions of one of the essential receptors in this pathway,
Externí odkaz:
https://doaj.org/article/294b475363534c688aa98334f4016174
Autor:
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric LeGuern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy Chung, Kathryn N Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille
PurposeARF1was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd60c35e549ae106d81306fe5c6d999
https://mediatum.ub.tum.de/doc/1707433/document.pdf
https://mediatum.ub.tum.de/doc/1707433/document.pdf
Publikováno v:
Circulation. 144
Introduction: Proximal aortic dilation is an important cause of morbidity and mortality secondary to rupture, dissection, and complications of repair. It has been described as a rare finding in RASopathy, but data is limited regarding prevalence, sev