Search Results - "Souza da Costa, Silvia"

Analysis of the Mutational Landscape of Osteosarcomas Identifies Genes Related to Metastasis and Prognosis and Disrupted Biological Pathways of Immune Response and Bone Development by Pires, Sara Ferreira, Barros, Juliana Sobral de, Costa, Silvia Souza da, Carmo, Gabriel Bandeira do, Scliar, Marília de Oliveira, Lengert, André van Helvoort, Boldrini, Érica, Silva, Sandra Regini Morini da, Vidal, Daniel Onofre, Maschietto, Mariana, Krepischi, Ana Cristina Victorino

“…Osteosarcoma (OS) is the most prevalent type of bone tumor, but slow progress has been achieved in disentangling the full set of genomic events involved in its…”
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Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting by Mazzonetto, Patricia C, Villela, Darine, da Costa, Silvia Souza, Krepischi, Ana C V, Milanezi, Fernanda, Migliavacca, Michele P, Pierry, Paulo M, Bonaldi, Adriano, Almeida, Luiz Gustavo D, De Souza, Camila Alves, Kroll, José Eduardo, Paula, Marcelo G, Guarischi-Sousa, Rodrigo, Scapulatempo-Neto, Cristovam, Rosenberg, Carla

“…Next generation sequencing technology has greatly reduced the cost and time required for sequencing a genome. An approach that is rapidly being adopted as an…”
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Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil by Krepischi, Ana C. V., Villela, Darine, da Costa, Silvia Souza, Mazzonetto, Patricia C., Schauren, Juliana, Migliavacca, Michele P., Milanezi, Fernanda, Santos, Juliana G., Guida, Gustavo, Guarischi-Sousa, Rodrigo, Campana, Gustavo, Kok, Fernando, Schlesinger, David, Kitajima, Joao Paulo, Campagnari, Francine, Bertola, Debora R., Vianna-Morgante, Angela M., Pearson, Peter L., Rosenberg, Carla

“…Chromosomal microarray analysis (CMA) has been recommended and practiced routinely since 2010 both in the USA and Europe as the first-tier cytogenetic test for…”
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Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes by Costa, Claudia Ismania Samogy, Silva Montenegro, Eduarda Morgana, Zarrei, Mehdi, Sá Moreira, Eloísa, Silva, Isabela Maya Wahys, Oliveira Scliar, Marília, Wang, Jaqueline Yu Ting, Zachi, Elaine Cristina, Branco, Elisa Varella, Costa, Silvia Souza, Lourenço, Naila Cristina Vilaça, Vianna‐Morgante, Angela Maria, Rosenberg, Carla, Krepischi, Ana Cristina Victorino, Scherer, Stephen W., Passos‐Bueno, Maria Rita

“…Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration known to contribute to the etiology of autism spectrum disorder (ASD),…”
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Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability by de Oliveira, Juliana Ferreira, do Prado, Paula Favoretti Vital, da Costa, Silvia Souza, Sforça, Mauricio Luis, Canateli, Camila, Ranzani, Americo Tavares, Maschietto, Mariana, de Oliveira, Paulo Sergio Lopes, Otto, Paulo A., Klevit, Rachel E., Krepischi, Ana Cristina Victorino, Rosenberg, Carla, Franchini, Kleber Gomes

“…Ubiquitin-conjugating enzymes (E2) enable protein ubiquitination by conjugating ubiquitin to their catalytic cysteine for subsequent transfer to a target…”
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Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing by Villela, Darine, Barros, Juliana Sobral, da Costa, Silvia Souza, Aguiar, Talita F. M., Campagnari, Francine, Vianna‐Morgante, Angela M., Krepischi, Ana C. V., Rosenberg, Carla

“…Mosaic segmental and whole chromosome copy number alterations are postzygotic variations known to be associated with several disorders. We have previously…”
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Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma by Pires, Sara Ferreira, Tolezano, Giovanna Cantini, da Costa, Silvia Souza, Kawahira, Rachel Sayuri Honjo, Kim, Chong Ae, Rosenberg, Carla, Teixeira, Anne Caroline Barbosa, Bertola, Debora Romeo, Krepischi, Ana Cristina Victorino

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Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses by Villela, Darine, Mazzonetto, Patricia C., Migliavacca, Michele P., Perrone, Eduardo, Guida, Gustavo, Milanezi, Maria Fernanda G., Jorge, Alexander A. L., Ribeiro‐Bicudo, Lucilene A., Kok, Fernando, Campagnari, Francine, Rosso‐Giuliani, Liane, Costa, Silvia Souza, Vianna‐Morgante, Angela M., Pearson, Peter L., Krepischi, Ana C. V., Rosenberg, Carla

“…Chromosomal microarray analyses (CMA) have greatly increased both the yield and diagnostic accuracy of postnatal analysis; it has been used as a first‐tier…”
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Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants by Bertani-Torres, William, Lezirovitz, Karina, Alencar-Coutinho, Danillo, Pardono, Eliete, da Costa, Silvia Souza, Antunes, Larissa do Nascimento, de Oliveira, Judite, Otto, Paulo Alberto, Pingault, Véronique, Mingroni-Netto, Regina Célia

“…Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary abnormalities of the eyes, hair, and skin. The condition is genetically…”
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Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X by de Castro Fonseca, Matheus, de Oliveira, Juliana Ferreira, Araujo, Bruno Henrique Silva, Canateli, Camila, do Prado, Paula Favoretti Vital, Amorim Neto, Dionísio Pedro, Bosque, Beatriz Pelegrini, Rodrigues, Paulla Vieira, de Godoy, João Vitor Pereira, Tostes, Katiane, Filho, Helder Veras Ribeiro, Nascimento, Andrey Fabricio Ziem, Saito, Angela, Tonoli, Celisa Caldana Costa, Batista, Fernanda Aparecida Heleno, de Oliveira, Paulo Sergio Lopes, Figueira, Ana Carolina, Souza da Costa, Silvia, Krepischi, Ana Cristina Victorino, Rosenberg, Carla, Westfahl, Harry, da Silva, Antônio José Roque, Franchini, Kleber Gomes

“…Current studies estimate that 1–3% of females with unexplained intellectual disability (ID) present de novo splice site, nonsense, frameshift, or missense…”
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Establishment of a novel human medulloblastoma cell line characterized by highly aggressive stem-like cells by Silva, Patrícia Benites Gonçalves da, Rodini, Carolina Oliveira, Kaid, Carolini, Nakahata, Adriana Miti, Pereira, Márcia Cristina Leite, Matushita, Hamilton, Costa, Silvia Souza da, Okamoto, Oswaldo Keith

“…Medulloblastoma is a highly aggressive brain tumor and one of the leading causes of morbidity and mortality related to childhood cancer. These tumors display…”
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Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature by Tolezano, Giovanna Cantini, Bastos, Giovanna Civitate, da Costa, Silvia Souza, Freire, Bruna Lucheze, Homma, Thais Kataoka, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Passos-Bueno, Maria Rita, Koiffmann, Celia Priszkulnik, Kim, Chong Ae, Vianna-Morgante, Angela Maria, de Lima Jorge, Alexander Augusto, Bertola, Débora Romeo, Rosenberg, Carla, Krepischi, Ana Cristina Victorino

“…Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism…”
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A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations by da Costa, Silvia Souza, Fishman, Veniamin, Pinheiro, Mara, Rodrigueiro, Andre, Sanseverino, Maria Teresa, Zielinsky, Paulo, Carvalho, Claudia M. B., Rosenberg, Carla, Krepischi, Ana Cristina Victorino

“…Structural variants (SVs) pose a challenge to detect and interpret, but their study provides novel biological insights and molecular diagnosis underlying rare…”
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Genetic investigation of syndromic forms of obesity by Carvalho, Laura Machado Lara, D’Angelo, Carla Sustek, Villela, Darine, da Costa, Silvia Souza, de Lima Jorge, Alexander Augusto, da Silva, Israel Tojal, de Oliveira Scliar, Marília, Chaves, Luiza Dias, Krepischi, Ana Cristina Victorino, Koiffmann, Celia Priszkulnik, Rosenberg, Carla

“…Background: Syndromic obesity (SO) refers to obesity with additional phenotypes, including intellectual disability (ID)/developmental delay (DD), dysmorphic…”
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DNA methylation patterns suggest the involvement of DNMT3B and TET1 in osteosarcoma development by Pires, Sara Ferreira, de Barros, Juliana Sobral, da Costa, Silvia Souza, de Oliveira Scliar, Marília, Van Helvoort Lengert, André, Boldrini, Érica, da Silva, Sandra Regina Morini, Tasic, Ljubica, Vidal, Daniel Onofre, Krepischi, Ana Cristina Victorino, Maschietto, Mariana

“…DNA methylation may be involved in the development of osteosarcomas. Osteosarcomas commonly arise during the bone growth and remodeling in puberty, making it…”
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Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome by Carvalho, Laura Machado Lara, Branco, Elisa Varella, Sarafian, Raquel Delgado, Kobayashi, Gerson Shigeru, de Araújo, Fabiano Tófoli, Santos Souza, Lucas, Moreira, Danielle de Paula, Hsia, Gabriella Shih Ping, Bertollo, Eny Maria Goloni, Buck, Cecília Barbosa, da Costa, Silvia Souza, Fialho, Davi Mendes, de Vasconcelos, Felipe Tadeu Galante Rocha, Brito, Luciano Abreu, de Souza Fraga Machado, Luciana Elena, Ramos, Igor Cabreira, Pereira, Lygia da Veiga, Koiffmann, Celia Priszkulnik, e Passos-Bueno, Maria Rita dos Santos, Oliveira Mendes, Tiago Antonio de, Krepischi, Ana Cristina Victorino, Rosenberg, Carla

“…•We described the establishment of the first biological models for Xia-Gibbs syndrome (XGS) study: three induced pluripotent stem cell (iPSC) lines derived…”
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Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders by Tolezano, Giovanna Cantini, Bastos, Giovanna Civitate, da Costa, Silvia Souza, Scliar, Marília de Oliveira, de Souza, Carolina Fischinger Moura, Van Der Linden Jr, Hélio, Fernandes, Walter Luiz Magalhães, Otto, Paulo Alberto, Vianna-Morgante, Angela M., Haddad, Luciana Amaral, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Kim, Chong Ae, Rosenberg, Carla, Jorge, Alexander Augusto de Lima, Bertola, Débora Romeo, Krepischi, Ana Cristina Victorino

“…Microcephaly is characterized by an occipitofrontal circumference at least two standard deviations below the mean for age and sex. Neurodevelopmental disorders…”
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A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma by Nishi, Mirian Yumie, Faria Júnior, José Antônia Diniz, Krepischi, Ana Cristina Victorino, de Moraes, Daniela Rodrigues, da Costa, Silvia Souza, Silva, Elinaelma Suelane do Nascimento, Costa, Elaine Maria Frade, Mendonca, Berenice Bilharinho, Domenice, Sorahia

“…Copy number variations of several genes involved in the process of gonadal determination have been identified as a cause of 46,XY differences of sex…”
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Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases by Carneiro, Thaise Nr, Krepischi, Ana Cv, Costa, Silvia S, Tojal da Silva, Israel, Vianna-Morgante, Angela M, Valieris, Renan, Ezquina, Suzana Am, Bertola, Debora R, Otto, Paulo A, Rosenberg, Carla

“…Exome sequencing is recognized as a powerful tool for identifying the genetic cause of intellectual disability (ID). It is uncertain, however, whether only the…”
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Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype by Souza, Lucas Santos, Almeida, Camila Freitas, Yamamoto, Guilherme Lopes, Pavanello, Rita de Cássia Mingroni, Gurgel-Giannetti, Juliana, da Costa, Silvia Souza, Anequini, Isabela Pessa, do Carmo, Silvana Amanda, Wang, Jaqueline Yu Ting, Scliar, Marília de Oliveira, Castelli, Erick C., Otto, Paulo Alberto, Zanoteli, Edmar, Vainzof, Mariz

“…To analyze the modulation of the phenotype in manifesting carriers of recessive X-linked myotubular myopathy (XLMTM), searching for possible genetic modifiers…”
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