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Page 1
Mandibulofacial dysostosis Bauru type: Refining the phenotype.
Moura PP, Kokitsu-Nakata NM, Yatabe MS, Vendramini-Pittoli S, Hori PH, Guion-Almeida ML, Garib DG, Richieri-Costa A, Zechi-Ceide RM. Moura PP, et al. Am J Med Genet A. 2017 Jul;173(7):1747-1753. doi: 10.1002/ajmg.a.38257. Epub 2017 May 30. Am J Med Genet A. 2017. PMID: 28558149
A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.
Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML. Zechi-Ceide RM, et al. Among authors: moura pp. Am J Med Genet A. 2013 Aug;161A(8):2088-94. doi: 10.1002/ajmg.a.36057. Epub 2013 Jul 9. Am J Med Genet A. 2013. PMID: 23840040
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.
Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J. Gordon CT, et al. Among authors: moura pp. Am J Hum Genet. 2015 Apr 2;96(4):519-31. doi: 10.1016/j.ajhg.2015.01.015. Epub 2015 Mar 12. Am J Hum Genet. 2015. PMID: 25772936 Free PMC article.
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome.
Serigatto HR, Kokitsu-Nakata NM, Moura PP, Vendramini-Pittoli S, Virmond LA, Peixoto AP, Tonello C, Brito LA, Passos-Bueno MR, Zechi-Ceide RM. Serigatto HR, et al. Among authors: moura pp. Clin Dysmorphol. 2023 Jan 1;32(1):21-24. doi: 10.1097/MCD.0000000000000434. Epub 2022 Sep 12. Clin Dysmorphol. 2023. PMID: 36503920 No abstract available.
Poxviruses diagnosed in cattle from Distrito Federal, Brazil (2015-2018).
Alonso RC, Moura PP, Caldeira DF, Mendes MHAF, Pinto MHB, Cargnelutti JF, Flores EF, de Sant'Ana FJF. Alonso RC, et al. Among authors: moura pp. Transbound Emerg Dis. 2020 Jul;67(4):1563-1573. doi: 10.1111/tbed.13490. Epub 2020 Feb 3. Transbound Emerg Dis. 2020. PMID: 31971341