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Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases.
Am J Med Genet A. 2011 Feb;155A(2):322-31. doi: 10.1002/ajmg.a.33806. Epub 2010 Dec 22.
Am J Med Genet A. 2011.
PMID: 21271648
Review.
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.
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center; van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium; Bulman DE, Boycott KM, Lines MA.
Huang L, et al. Among authors: favaro fp.
Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Epub 2015 Nov 19.
Hum Mutat. 2016.
PMID: 26507355
Free PMC article.
Review.
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DNA methylation patterns in bladder cancer and washing cell sediments: a perspective for tumor recurrence detection.
Negraes PD, Favaro FP, Camargo JL, Oliveira ML, Goldberg J, Rainho CA, Salvadori DM.
Negraes PD, et al. Among authors: favaro fp.
BMC Cancer. 2008 Aug 14;8:238. doi: 10.1186/1471-2407-8-238.
BMC Cancer. 2008.
PMID: 18702824
Free PMC article.
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