Search Results - "da Costa E Silva Carvalho, Simone"

A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor by Rodrigue, Amélie, Margaillan, Guillaume, Torres Gomes, Thiago, Coulombe, Yan, Montalban, Gemma, da Costa e Silva Carvalho, Simone, Milano, Larissa, Ducy, Mandy, De-Gregoriis, Giuliana, Dellaire, Graham, Araújo da Silva Jr, Wilson, Monteiro, Alvaro N, Carvalho, Marcelo A, Simard, Jacques, Masson, Jean-Yves

“…Abstract While biallelic mutations in the PALB2 tumor suppressor cause Fanconi anemia subtype FA-N, monoallelic mutations predispose to breast and familial…”
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Contributions of HOX genes to cancer hallmarks: Enrichment pathway analysis and review by Brotto, Danielle Barbosa, Siena, Ádamo Davi Diógenes, de Barros, Isabela Ichihara, Carvalho, Simone da Costa e Silva, Muys, Bruna Rodrigues, Goedert, Lucas, Cardoso, Cibele, Plaça, Jessica Rodrigues, Ramão, Anelisa, Squire, Jeremy Andrew, Araujo, Luiza Ferreira, Silva, Wilson Araújo da

“…Homeobox genes function as master regulatory transcription factors during development, and their expression is often altered in cancer. The HOX gene family was…”
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Are the damaging effects of oil refinery effluents on Corbicula fluminea (mollusca) reversible after its transfer to clean water? by Rodrigues, Fernando Postalli, da Costa e Silva Carvalho, Simone, Martinez, Claudia Bueno dos Reis, Malafaia, Guilherme, Guedes, Carmen Luísa Barbosa, Jordão, Berenice Quinzani

“…•Oil-refinery effluent cause genotoxic damage in C. fluminea.•Genotoxicity can be quickly reversed when mollusks can recover in clean water.•C. fluminea…”
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Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population by da Costa E Silva Carvalho, Simone, Cury, Nathalia Moreno, Brotto, Danielle Barbosa, de Araujo, Luiza Ferreira, Rosa, Reginaldo Cruz Alves, Texeira, Lorena Alves, Plaça, Jessica Rodrigues, Marques, Adriana Aparecida, Peronni, Kamila Chagas, Ruy, Patricia de Cássia, Molfetta, Greice Andreotti, Moriguti, Julio Cesar, Carraro, Dirce Maria, Palmero, Edenir Inêz, Ashton-Prolla, Patricia, de Faria Ferraz, Victor Evangelista, Silva, Jr, Wilson Araujo

“…The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) occurs in families with a history of breast/ovarian cancer, presenting an autosomal dominant…”
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Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort by Carvalho, Simone da Costa E Silva, Grangeiro, Carlos Henrique Paiva, Picanço-Albuquerque, Clarissa Gondim, Dos Anjos, Thaís Oliveira, De Molfetta, Greice Andreotti, Silva, Jr, Wilson Araujo, Ferraz, Victor Evangelista de Faria

“…Hereditary hearing loss (HL) is the most common sensorineural disorder in humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4…”
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Serum Oxidative Stress Markers and Genotoxic Profile Induced by Chemotherapy in Patients with Breast Cancer: A Pilot Study by Cavalcante, Ana Amélia de Carvalho Melo, de Freitas, Rivelilson Mendes, Ferreira, Paulo Michel Pinheiro, Machado, Kátia da Conceição, Sobral, André Luiz Pinho, Carvalho, Simone da Costa e Silva, Silva, Laís Iasmin Soares da, Paz, Marcia Fernanda Correia Jardim, Júnior, Antonio Luiz Gomes, Satyal, Prabodh

“…The aim of this study was to evaluate the oxidative parameters of erythrocytes and genotoxicity in leukocytes of patients with breast cancer. Oxidative…”
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