Search Results - "Nascimento, Amom Mendes"

DNA methylation epi-signature and biological age in attention deficit hyperactivity disorder patients by Carvalho, Gleyson Francisco da Silva, Costa, Thais Virginia Moura Machado, Nascimento, Amom Mendes, Wolff, Beatriz Martins, Damasceno, Julian Gabriel, Vieira, Lucas Liro, Almeida, Vanessa Tavares, Oliveira, Yanca Gasparini de, Mello, Claudia Berlim de, Muszkat, Mauro, Kulikowski, Leslie Domenici

“…Attention Deficit/Hyperactivity Disorder (ADHD) is a common behavioral syndrome that begins in childhood and affects 3.4% of children worldwide. Due to its…”
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The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates by Silva, André Macedo Serafim, Rodrigo, Patricia, Moreno, Cristiane Araújo Martins, Mendonça, Rodrigo de Holanda, Estephan, Eduardo de Paula, Camelo, Clara Gontijo, Campos, Eliene Dutra, Dias, Alexandre Torchio, Nascimento, Amom Mendes, Kulikowski, Leslie Domenici, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Goldfarb, Lev G, Olivé, Montse, Zanoteli, Edmar

“…Abstract Desmin (DES) is the main intermediate muscle filament that connects myofibrils individually and with the nucleus, sarcolemma, and organelles…”
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Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service by Adriano, Márcia Regina Gimenes, Bortolai, Adriana, Madia, Fabricia Andreia Rosa, da Silva Carvalho, Gleyson Francisco, Nascimento, Amom Mendes, Zanardo, Evelin Aline, Wolff, Beatriz Martins, Waisberg, Jaques, Bos-Mikich, Adriana, Kulikowski, Leslie Domenici, Dias, Alexandre Torchio

“…Male infertility accounts for approximately 30% of cases of reproductive failure. The characterization of genetic variants using cytogenomic techniques is…”
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Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience by Zanardo, Évelin Aline, Dutra, Roberta Lelis, Piazzon, Flavia Balbo, Dias, Alexandre Torchio, Novo-Filho, Gil Monteiro, Nascimento, Amom Mendes, Montenegro, Marília Moreira, Damasceno, Jullian Gabriel, Madia, Fabrícia Andreia Rosa, da Costa, Thaís Virgínia Moura Machado, Melaragno, Maria Isabel, Kim, Chong Ae, Kulikowski, Leslie Domenici

“…The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques…”
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Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome by Zanardo, Évelin Aline, Piazzon, Flavia Balbo, Dutra, Roberta Lelis, Dias, Alexandre Torchio, Montenegro, Marília Moreira, Novo-Filho, Gil Monteiro, Costa, Thaís Virgínia Moura Machado, Nascimento, Amom Mendes, Kim, Chong Ae, Kulikowski, Leslie Domenici

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Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome by Chehimi, Samar Nasser, Almeida, Vanessa Tavares, Nascimento, Amom Mendes, Zanardo, Évelin Aline, de Oliveira, Yanca Gasparini, Carvalho, Gleyson Francisco da Silva, Wolff, Beatriz Martins, Montenegro, Marilia Moreira, de Assunção, Nilson Antônio, Kim, Chong Ae, Kulikowski, Leslie Domenici

“…•The authors The authors have described three novel rearrangements between chromosomes 5 and 2, 5 and 18, and 5 and Y with chromosomal breakpoints and…”
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Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome by Zanardo, Évelin Aline, Piazzon, Flavia Balbo, Dutra, Roberta Lelis, Dias, Alexandre Torchio, Montenegro, Marília Moreira, Novo-Filho, Gil Monteiro, Costa, Thaís Virgínia Moura Machado, Nascimento, Amom Mendes, Kim, Chong Ae, Kulikowski, Leslie Domenici

“…Genome rearrangements are caused by the erroneous repair of DNA double-strand breaks, leading to several alterations that result in loss or gain of the…”
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Post-mortem cytogenomic investigations in patients with congenital malformations by Dias, Alexandre Torchio, Zanardo, Évelin Aline, Dutra, Roberta Lelis, Piazzon, Flavia Balbo, Novo-Filho, Gil Monteiro, Montenegro, Marilia Moreira, Nascimento, Amom Mendes, Rocha, Mariana, Madia, Fabricia Andreia Rosa, Costa, Thais Virgínia Moura Machado, Milani, Cintia, Schultz, Regina, Gonçalves, Fernanda Toledo, Fridman, Cintia, Yamamoto, Guilherme Lopes, Bertola, Débora Romeo, Kim, Chong Ae, Kulikowski, Leslie Domenici

“…Congenital anomalies are the second highest cause of infant deaths, and, in most cases, diagnosis is a challenge. In this study, we characterize patterns of…”
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