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Auriculo-condylar syndrome. Confronting a diagnostic challenge.
Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini-Pittoli S, Romanelli Tavares VL, Passos-Bueno MR, Guion-Almeida ML. Kokitsu-Nakata NM, et al. Am J Med Genet A. 2012 Jan;158A(1):59-65. doi: 10.1002/ajmg.a.34337. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105959
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population.
Brito LA, Bassi CF, Masotti C, Malcher C, Rocha KM, Schlesinger D, Bueno DF, Cruz LA, Barbara LK, Bertola DR, Meyer D, Franco D, Alonso N, Passos-Bueno MR. Brito LA, et al. Am J Med Genet A. 2012 Sep;158A(9):2170-5. doi: 10.1002/ajmg.a.35526. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887868
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM, de Souza J, Raskin S, Twigg SR, Weiner AM, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AO, Richieri-Costa A, de Almeida ML, Passos-Bueno MR. Favaro FP, et al. Am J Hum Genet. 2014 Jan 2;94(1):120-8. doi: 10.1016/j.ajhg.2013.11.020. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360810 Free PMC article.
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR. Romanelli Tavares VL, et al. Eur J Hum Genet. 2015 Apr;23(4):481-5. doi: 10.1038/ejhg.2014.132. Epub 2014 Jul 16. Eur J Hum Genet. 2015. PMID: 25026904 Free PMC article.
316 results