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22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
de Wallau MB, Xavier AC, Moreno CA, Kim CA, Mendes EL, Ribeiro EM, Oliveira A, Félix TM, Fett-Conte AC, Bonadia LC, Correia-Costa GR, Monlleó IL, Gil-da-Silva-Lopes VL, Vieira TP. de Wallau MB, et al. Among authors: moreno ca. Genes (Basel). 2024 Apr 21;15(4):518. doi: 10.3390/genes15040518. Genes (Basel). 2024. PMID: 38674452 Free PMC article.
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Poloni S, Sperb-Ludwig F, Borsatto T, Weber Hoss G, Doriqui MJR, Embiruçu EK, Boa-Sorte N, Marques C, Kim CA, Fischinger Moura de Souza C, Rocha H, Ribeiro M, Steiner CE, Moreno CA, Bernardi P, Valadares E, Artigalas O, Carvalho G, Wanderley HYC, Kugele J, Walter M, Gallego-Villar L, Blom HJ, Schwartz IVD. Poloni S, et al. Among authors: moreno ca. Mol Genet Genomic Med. 2018 Mar;6(2):160-170. doi: 10.1002/mgg3.342. Epub 2018 Jan 20. Mol Genet Genomic Med. 2018. PMID: 29352562 Free PMC article.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C. Moosa S, et al. Among authors: moreno ca. Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26. Am J Hum Genet. 2019. PMID: 31564437 Free PMC article.
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC, Coelho AVC, Moura LMS, Guedes RLM, Chen K, Ceroni JRM, Minillo RM, Caraciolo MP, Reis RS, de Azevedo BMC, Nobrega MS, Teixeira ACB, Martinelli Lima M, da Mota TR, da Matta MC, Colichio GBC, Roncalho AL, Ferreira AFM, Campilongo GP, Perrone E, Virmond LDA, Moreno CA, Prota JRM, de França M, Cervato MC, de Almeida TF, de Oliveira Filho JB. Quaio CRAC, et al. Among authors: moreno ca. Front Genet. 2022 Aug 30;13:921324. doi: 10.3389/fgene.2022.921324. eCollection 2022. Front Genet. 2022. PMID: 36147510 Free PMC article.
Non-immune hydrops fetalis: A prospective study of 53 cases.
Moreno CA, Kanazawa T, Barini R, Nomura ML, Andrade KC, Gomes CP, Heinrich JK, Giugliani R, Burin M, Cavalcanti DP. Moreno CA, et al. Am J Med Genet A. 2013 Dec;161A(12):3078-86. doi: 10.1002/ajmg.a.36171. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039125
97 results