Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability von Santos-Rebouças, Cíntia Barros, de Almeida, Luciana Guedes, Belet, Stefanie, Dos Santos, Suely Rodrigues, Ribeiro, Márcia Gonçalves, da Silva, Antônio Francisco Alves, Medina-Acosta, Enrique, Dos Santos, Jussara Mendonça, Gonçalves, Andressa Pereira, Bahia, Paulo Roberto Valle, Pimentel, Márcia Mattos Gonçalves, Froyen, Guy

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A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder von 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

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A study of LRRK2 mutations and Parkinson's disease in Brazil von Pimentel, Márcia Mattos Gonçalves, Moura, Karla Cristina Vasconcelos, Abdalla, Cláudia Bueno, Pereira, João Santos, Rosso, Ana Lúcia Zuma de, Nicaretta, Denise Hack, Junior, Mário Campos, Almeida, Richard Morais de, Santos, Jussara Mendonça dos, Bastos, Izabel Cristina Constantino, Mendes, Maria Filomena Xavier, Maultasch, Henryk, Costa, Flavio Henrique de Rezende, Werneck, Antônio Luiz dos Santos, Santos-Rebouças, Cíntia Barros

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

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Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson’s disease in Brazilian patients von 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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Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males von 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

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Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing von Vianna, Evelyn Quintanilha, Piergiorge, Rafael Mina, Gonçalves, Andressa Pereira, dos Santos, Jussara Mendonça, Calassara, Veluma, Rosenberg, Carla, Krepischi, Ana Cristina Victorino, Boy da Silva, Raquel Tavares, dos Santos, Suely Rodrigues, Ribeiro, Márcia Gonçalves, Machado, Filipe Brum, Medina-Acosta, Enrique, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros

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Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome von Abdala, Bianca Barbosa, Gonçalves, Andressa Pereira, dos Santos, Jussara Mendonça, Boy, Raquel, de Carvalho, Claudia Marcia Benedetto, Grochowski, Christopher M., Krepischi, Ana Cristina Victorino, Rosenberg, Carla, Gusmão, Leonor, Pehlivan, Davut, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros

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Network Profiling of Brain-Expressed X-Chromosomal MicroRNA Genes Implicates Shared Key MicroRNAs in Intellectual Disability von Gonçalves, Thainá Fernandez, Piergiorge, Rafael Mina, dos Santos, Jussara Mendonça, Gusmão, Jaqueline, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros

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Influence of low frequency PSEN1 variants on familial Alzheimer’s disease risk in Brazil von Abdala, Bianca Barbosa, dos Santos, Jussara Mendonça, Gonçalves, Andressa Pereira, da Motta, Luciana Branco, Laks, Jerson, de Borges, Margarete Borges, Gonçalves Pimentel, Márcia Mattos, Santos-Rebouças, Cíntia Barros

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rs3851179 Polymorphism at 5′ to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population von Santos-Rebouças, Cíntia Barros, Gonçalves, Andressa Pereira, dos Santos, Jussara Mendonça, Abdala, Bianca Barbosa, Motta, Luciana Branco, Laks, Jerson, de Borges, Margarete Borges, de Rosso, Ana Lúcia Zuma, Pereira, João Santos, Nicaretta, Denise Hack, Pimentel, Márcia Mattos Gonçalves

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KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature von Gonçalves, Thainá Fernandez, Gonçalves, Andressa Pereira, Fintelman Rodrigues, Natalia, dos Santos, Jussara Mendonça, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros

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Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease von 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

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The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males von dos Santos, Jussara Mendonça, Abdalla, Cláudia Bueno, Campos, Mário, Santos-Rebouças, Cíntia Barros, Pimentel, Márcia Mattos Gonçalves

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Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parlkinson's disease von 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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Expression of Cancer Stem Cell Biomarkers in Human Head and Neck Carcinomas: a Systematic Review von Curtarelli, Raissa Borges, Gonçalves, Jussara Maria, Dos Santos, Luciane Geanini Pena, Savi, Maria Gorete, Nör, Jacques Eduardo, Mezzomo, Luis André Mendonça, Rodríguez Cordeiro, Mabel Mariela

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Effect of surface treatment on the retention of zirconia crowns to tooth structure after aging von Monteiro, Renata Vasconcelos, dos Santos, Daniela Micheline, Bernardon, Jussara Karina, De Souza, Grace Mendonça

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Effect of Universal Adhesives on Long-term Bond Strength to Zirconia von Vasconcelos Monteiro, Renata, Dos Santos, Daniela Micheline, Chrispim, Bruna, Bernardon, Jussara Karina, Soares Porto, Thiago, De Souza, Grace Mendonça

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Endocarditis due to Coxiella burnetii (Q fever): a rare or underdiagnosed disease? Case report von Siciliano, Rinaldo Focaccia, Ribeiro, Henrique Barbosa, Furtado, Remo Holanda de Mendonça, Castelli, Jussara Bianchi, Sampaio, Roney Orismar, Santos, Fabiana Cristina Pereira dos, Colombo, Silvia, Grinberg, Max, Strabelli, Tânia Mara Varejão

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Endocardite por Coxiella burnetii (febre Q): doença rara ou pouco diagnosticada? Relato de caso Endocarditis due to Coxiella burnetii (Q fever): a rare or underdiagnosed disease? C... von Rinaldo Focaccia Siciliano, Henrique Barbosa Ribeiro, Remo Holanda de Mendonça Furtado, Jussara Bianchi Castelli, Roney Orismar Sampaio, Fabiana Cristina Pereira dos Santos, Silvia Colombo, Max Grinberg, Tânia Mara Varejão Strabelli

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