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Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
Pingault V, Bodereau V, Baral V, Marcos S, Watanabe Y, Chaoui A, Fouveaut C, Leroy C, Vérier-Mine O, Francannet C, Dupin-Deguine D, Archambeaud F, Kurtz FJ, Young J, Bertherat J, Marlin S, Goossens M, Hardelin JP, Dodé C, Bondurand N. Pingault V, et al. Among authors: baral v. Am J Hum Genet. 2013 May 2;92(5):707-24. doi: 10.1016/j.ajhg.2013.03.024. Am J Hum Genet. 2013. PMID: 23643381 Free PMC article.
SOX10 mutations mimic isolated hearing loss.
Pingault V, Faubert E, Baral V, Gherbi S, Loundon N, Couloigner V, Denoyelle F, Noël-Pétroff N, Ducou Le Pointe H, Elmaleh-Bergès M, Bondurand N, Marlin S. Pingault V, et al. Among authors: baral v. Clin Genet. 2015 Oct;88(4):352-9. doi: 10.1111/cge.12506. Epub 2014 Nov 6. Clin Genet. 2015. PMID: 25256313
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V. Bondurand N, et al. Among authors: baral v. Am J Hum Genet. 2007 Dec;81(6):1169-85. doi: 10.1086/522090. Epub 2007 Oct 22. Am J Hum Genet. 2007. PMID: 17999358 Free PMC article.
Sox10 and Itgb1 interaction in enteric neural crest cell migration.
Watanabe Y, Broders-Bondon F, Baral V, Paul-Gilloteaux P, Pingault V, Dufour S, Bondurand N. Watanabe Y, et al. Among authors: baral v. Dev Biol. 2013 Jul 1;379(1):92-106. doi: 10.1016/j.ydbio.2013.04.013. Epub 2013 Apr 19. Dev Biol. 2013. PMID: 23608456 Free article.
34 results