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Estudo clínico e molecular em pacientes com fissuras orais para avaliação do efeito fenotípico de variantes do IRF6 e estimativa da contribuição genética nas fissuras palatinas

Autor: Meira, Joanna Goes Castro

As fissuras orais são as malformações craniofaciais mais freqüentes ao nascimento e apresentam incidências variáveis entre as diversas populações. Essas fissuras são subdivididas em dois grupos principais, as fissuras labiais com ou sem fiss

Externí odkaz: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-11072014-093423/

Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review.

Autor: Meira, Joanna Goes Castro, Magalhães, Bruna Souza, Ferreira, Isabella Brige Bonifácio, Tavares, Dione Fernandes, Kobayashi, Gerson Shigeru, Leão, Emília Katiane E. A.

Publikováno v: American Journal of Medical Genetics. Part A; May2021, Vol. 185 Issue 5, p1569-1574, 6p

Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism

Autor: Meira, Joanna Goes Castro, Sarno, Manoel Alfredo Curvelo, Faria, Ágatha Cristhina Oliveira, Yamamoto, Guilherme Lopes, Bertola, Débora Romeo, Scheibler, Gabriela Gayer, Tavares, Dione Fernandes, Acosta, Angelina Xavier

Publikováno v: Revista Brasileira de Ginecologia e Obstetrícia; September 2018, Vol. 40 Issue: 9 p570-576, 7p

Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.

Autor: Caires-Júnior LC; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Goulart E; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Melo US; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Araujo BHS; Brazilian Biosciences National Laboratory (LNBio), Brazilian Center for Research in Energy and Materials (CNPEM), Campinas - SP, 13083-970, Brazil.; Neuroscience laboratory, Department of Neurology and Neurosurgery, Federal University of São Paulo-UNIFESP/EPM, São Paulo - SP, 04039-002, Brazil., Alvizi L; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Soares-Schanoski A; Butantan Institute, São Paulo - SP, 05503-900, Brazil., de Oliveira DF; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Kobayashi GS; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Griesi-Oliveira K; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil.; Albert Einstein Hospital, São Paulo - SP, 05652-900, Brazil., Musso CM; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Amaral MS; Butantan Institute, São Paulo - SP, 05503-900, Brazil., daSilva LF; Department of Biochemistry, Institute of Chemistry, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Astray RM; Butantan Institute, São Paulo - SP, 05503-900, Brazil., Suárez-Patiño SF; Butantan Institute, São Paulo - SP, 05503-900, Brazil., Ventini DC; Butantan Institute, São Paulo - SP, 05503-900, Brazil., da Silva SG; Albert Einstein Hospital, São Paulo - SP, 05652-900, Brazil.; Universidade de Mogi das Cruzes, Mogi das Cruzes - SP, 08780-911, Brazil., Yamamoto GL; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Ezquina S; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Naslavsky MS; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Telles-Silva KA; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Weinmann K; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., van der Linden V; AACD, Recife - PE, 50080-810, Brazil., van der Linden H; Rehabilitation Center-Dr. Henrique Santillo, Goiânia - GO, 74653-230, Brazil., de Oliveira JRM; Neuropsychiatry Department and KeizoAsami Laboratory, Federal University of Pernambuco (UFPE), Recife - PE, 50670-901, Brazil., Arrais NMR; Department of Pediatrics, Federal University of Rio Grande do Norte (UFRN), Natal- RN, 59010-180, Brazil., Melo A; ISEA, Campina Grande- PB, 58400-220, Brazil., Figueiredo T; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Santos S; Department of Biology, Paraíba State University (UEPB), Campina Grande - PB, 58429-500, Brazil., Meira JGC; Federal University of Bahia (UFBA), Salvador - BA, 40170-115, Brazil., Passos SD; Infectious pediatric laboratory, Medicine School of Jundiaí, Jundiaí - SP, 40170-115, Brazil., de Almeida RP; Division of Immunology and Molecular Biology Laboratory, Federal University of Sergipe (UFS), Aracaju - SP, 49100-000, Brazil., Bispo AJB; Division of Immunology and Molecular Biology Laboratory, Federal University of Sergipe (UFS), Aracaju - SP, 49100-000, Brazil., Cavalheiro EA; Neuroscience laboratory, Department of Neurology and Neurosurgery, Federal University of São Paulo-UNIFESP/EPM, São Paulo - SP, 04039-002, Brazil., Kalil J; Butantan Institute, São Paulo - SP, 05503-900, Brazil., Cunha-Neto E; Heart Institute, Faculty of Medicine, University of São Paulo (USP), São Paulo - SP, 05403-900, Brazil., Nakaya H; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Andreata-Santos R; Vaccine Development Laboratory, Department of Microbiology, Institute of Biomedical Science, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., de Souza Ferreira LC; Vaccine Development Laboratory, Department of Microbiology, Institute of Biomedical Science, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Verjovski-Almeida S; Butantan Institute, São Paulo - SP, 05503-900, Brazil.; Department of Biochemistry, Institute of Chemistry, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Ho PL; Butantan Institute, São Paulo - SP, 05503-900, Brazil., Passos-Bueno MR; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil., Zatz M; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo - SP, 05508-900, Brazil. mayazatz@usp.br.

Publikováno v: Nature communications [Nat Commun] 2018 Mar 13; Vol. 9 (1), pp. 1114. Date of Electronic Publication: 2018 Mar 13.