Search Results - "dos Santos, Adriana Vaz"

A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male by Campos, Mário, Abdalla, Cláudia Bueno, Santos, Adriana Vaz dos, Pestana, Cristiane Pinheiro, Santos, Jussara Mendonça dos, Santos-Rebouças, Cíntia Barros, Pimentel, Márcia Mattos Gonçalves

“…Abstract MeCP2 is a protein that functions as a key factor in epigenetic transcriptional regulation. Mutations in MECP2 gene have been reported as being the…”
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A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder by Campos, Mário, Pestana, Cristiane Pinheiro, dos Santos, Adriana Vaz, Ponchel, Frederique, Churchman, Sarah, Abdalla-Carvalho, Cláudia Bueno, dos Santos, Jussara Mendonça, dos Santos, Flavia Lima, Gikovate, Carla Gruber, Santos-Rebouças, Cíntia Barros, Pimentel, Márcia Mattos Gonçalves

“…Abstract Point mutations and genomic rearrangements in the MECP2 gene are the major cause of Rett syndrome (RTT), a pervasive developmental disorder affecting…”
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Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males by Campos, Mário, Abdalla, Cláudia Bueno, Santos-Rebouças, Cíntia Barros, dos Santos, Adriana Vaz, Pestana, Cristiane Pinheiro, Domingues, Mariana Lopes, dos Santos, Jussara Mendonça, Pimentel, Márcia Mattos Gonçalves

“…MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional…”
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Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson’s disease in Brazilian patients by de Carvalho Guimarães, Beatriz, Valente Pereira, Ana Carolina, da Costa Rodrigues, Fabíola, Vaz dos Santos, Adriana, Júnior, Mário Campos, Mendonça dos Santos, Jussara, Lima dos Santos, Flávia, Zuma de Rosso, Ana Lúcia, Nicaretta, Denise Hack, Pereira, João Santos, José da Silva, Delson, Della Coletta, Marcus Vinicius, Santos-Rebouças, Cíntia Barros, Gonçalves Pimentel, Márcia Mattos

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Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease by dos Santos, Adriana Vaz, Pestana, Cristiane Pinheiro, Diniz, Karen Rafaella da Silva, Campos, Mário, Abdalla-Carvalho, Cláudia Bueno, de Rosso, Ana Lúcia Zuma, Pereira, João Santos, Nicaretta, Denise Hack, de Carvalho, William Luciano, dos Santos, Jussara Mendonça, Santos-Rebouças, Cíntia Barros, Pimentel, Márcia Mattos Gonçalves

“…▶ No clearly pathogenic mutations were identified in ATP13A2 and GIGYF2. ▶ We identified a higher frequency of mutations in GBA among PD cases than controls. ▶…”
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Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parlkinson's disease by VAZ DOS SANTOS, Adriana, PINHEIRO PESTANA, Cristiane, BARROS SANTOS-REBOUCAS, Cíntia, GONCALVES PIMENTEL, Márcia Mattos, DA SILVA DINIZ, Karen Rafaella, CAMPOS, Mário, ABDALLA-CARVALHO, Cláudia Bueno, ZUMA DE ROSSO, Ana Lúcia, SANTOS PEREIRA, João, HACK NICARETTA, Denise, DE CARVALHO, William Luciano, MENDONCA DOS SANTOS, Jussara

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