Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Gwenaelle Collod-Beroud"'
Autor:
Stéphanie Ibrahim, Bénédicte Gaborit, Marien Lenoir, Gwenaelle Collod-Beroud, Sonia Stefanovic
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 22, p 16258 (2023)
Congenital heart defects (CHDs) are the most common form of birth defects in humans. They occur in 9 out of 1000 live births and are defined as structural abnormalities of the heart. Understanding CHDs is difficult due to the heterogeneity of the dis
Externí odkaz:
https://doaj.org/article/775de11622cc490680f80e1456343c4d
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
Protein domains provide a new layer of information for classifying human variations in rare diseases
Autor:
Mélanie Corcuff, Marc Garibal, Jean-Pierre Desvignes, Céline Guien, Coralie Grattepanche, Gwenaëlle Collod-Béroud, Estelle Ménoret, David Salgado, Christophe Béroud
Publikováno v:
Frontiers in Bioinformatics, Vol 3 (2023)
Introduction: Using the ACMG-AMP guidelines for the interpretation of sequence variants, it remains difficult to meet the criterion associated with the protein domain, PM1, which is assigned in only about 10% of cases, whereas the criteria related to
Externí odkaz:
https://doaj.org/article/09c230dfc30e468b8da3427bb96c6d89
Autor:
Aerts, Cecile, François, Cassim, Isabelle, Vuillaume, Gwenaelle, Collod-Beroud, Luc, Defebvre, Alexandre, Kreisler
Publikováno v:
In Revue Neurologique March 2017 173 Supplement 2:S147-S148