Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Marine Herbane"'
Autor:
Hager Jaouadi, Victor Morel, Helene Martel, Pierre Lindenbaum, Lorcan Lamy de la Chapelle, Marine Herbane, Claire Lucas, Frédérique Magdinier, Habib Gilbert, Jean-Jacques Schott, Stéphane Zaffran, Karine Nguyen
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundApproximately half of hypertrophic cardiomyopathy (HCM) patients lack a precise genetic diagnosis. The likelihood of identifying clinically relevant variants increased over time.MethodsIn this study, we conducted a gene-centric reanalysis o
Externí odkaz:
https://doaj.org/article/130cb58808844f979f98d6641a127d63
Autor:
Gaëlle Odelin, Adèle Faucherre, Damien Marchese, Amélie Pinard, Hager Jaouadi, Solena Le Scouarnec, FranceGenRef Consortium, Raphaël Chiarelli, Younes Achouri, Emilie Faure, Marine Herbane, Alexis Théron, Jean-François Avierinos, Chris Jopling, Gwenaëlle Collod-Béroud, René Rezsohazy, Stéphane Zaffran
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Bicuspid aortic valve (BAV) is the most common cardiac defect and although highly heritable, few causal mutations have been identified. Here, the authors identify variants in the poly-histidine repeat motif of HOXA1 and show that its disruption leads
Externí odkaz:
https://doaj.org/article/f7e23b8b54634e9f9ca2535ee58a075d