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Sex, pregnancy and aortic disease in Marfan syndrome.
Renard M, Muiño-Mosquera L, Manalo EC, Tufa S, Carlson EJ, Keene DR, De Backer J, Sakai LY. Renard M, et al. PLoS One. 2017 Jul 14;12(7):e0181166. doi: 10.1371/journal.pone.0181166. eCollection 2017. PLoS One. 2017. PMID: 28708846 Free PMC article.
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.
Muiño-Mosquera L, Steijns F, Audenaert T, Meerschaut I, De Paepe A, Steyaert W, Symoens S, Coucke P, Callewaert B, Renard M, De Backer J. Muiño-Mosquera L, et al. Among authors: renard m. Circ Genom Precis Med. 2018 Jun;11(6):e002039. doi: 10.1161/CIRCGEN.117.002039. Circ Genom Precis Med. 2018. PMID: 29875124
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noé B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M. Elbitar S, et al. Among authors: renard m. Genet Med. 2021 Jan;23(1):111-122. doi: 10.1038/s41436-020-00947-4. Epub 2020 Aug 28. Genet Med. 2021. PMID: 32855533 Free PMC article.
495 results