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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.
A study of familial stuttering.
Canhetti-Oliveira CM, Richieri-Costa A. Canhetti-Oliveira CM, et al. Am J Med Genet A. 2006 Oct 1;140(19):2139-41. doi: 10.1002/ajmg.a.31320. Am J Med Genet A. 2006. PMID: 16752384
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.
Kokitsu-Nakata NM, Petrin AL, Heard JP, Vendramini-Pittoli S, Henkle LE, dos Santos DV, Murray JC, Richieri-Costa A. Kokitsu-Nakata NM, et al. Am J Med Genet A. 2012 Aug;158A(8):2003-8. doi: 10.1002/ajmg.a.35454. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740433 Free PMC article.
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC. de Lima RL, et al. Genet Med. 2009 Apr;11(4):241-7. doi: 10.1097/GIM.0b013e318197a49a. Genet Med. 2009. PMID: 19282774 Free PMC article.
190 results