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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project; Jondeau G, Milewicz DM. Boileau C, et al. Among authors: gross ms. Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348. Nat Genet. 2012. PMID: 22772371 Free PMC article.
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.
Barbier M, Gross MS, Aubart M, Hanna N, Kessler K, Guo DC, Tosolini L, Ho-Tin-Noe B, Regalado E, Varret M, Abifadel M, Milleron O, Odent S, Dupuis-Girod S, Faivre L, Edouard T, Dulac Y, Busa T, Gouya L, Milewicz DM, Jondeau G, Boileau C. Barbier M, et al. Among authors: gross ms. Am J Hum Genet. 2014 Dec 4;95(6):736-43. doi: 10.1016/j.ajhg.2014.10.018. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434006 Free PMC article.
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: gross ms. 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.
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.
Aubart M, Gazal S, Arnaud P, Benarroch L, Gross MS, Buratti J, Boland A, Meyer V, Zouali H, Hanna N, Milleron O, Stheneur C, Bourgeron T, Desguerre I, Jacob MP, Gouya L, Génin E, Deleuze JF, Jondeau G, Boileau C. Aubart M, et al. Among authors: gross ms. Eur J Hum Genet. 2018 Dec;26(12):1759-1772. doi: 10.1038/s41431-018-0164-9. Epub 2018 Aug 7. Eur J Hum Genet. 2018. PMID: 30087447 Free PMC article.
Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.
Grange T, Aubart M, Langeois M, Benarroch L, Arnaud P, Milleron O, Eliahou L, Gross MS, Hanna N, Boileau C, Gouya L, Jondeau G. Grange T, et al. Among authors: gross ms. Genes (Basel). 2020 May 20;11(5):574. doi: 10.3390/genes11050574. Genes (Basel). 2020. PMID: 32443863 Free PMC article.
Resistance to high-fat diet in the female progeny of obese mice fed a control diet during the periconceptual, gestation, and lactation periods.
Gallou-Kabani C, Vigé A, Gross MS, Boileau C, Rabes JP, Fruchart-Najib J, Jais JP, Junien C. Gallou-Kabani C, et al. Among authors: gross ms. Am J Physiol Endocrinol Metab. 2007 Apr;292(4):E1095-100. doi: 10.1152/ajpendo.00390.2006. Epub 2006 Dec 12. Am J Physiol Endocrinol Metab. 2007. PMID: 17164437 Free article.
225 results