Search Results - Márcia Mattos Gonçalves Pimentel

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  1. 1
    Implication of abnormal epigenetic patterns for human diseases

    Implication of abnormal epigenetic patterns for human diseases by Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel

    Published 2006
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  2. 2
    A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males

    A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males by Cíntia Barros Santos-Rebouças, Marcelo A. Costa Lima, Márcia Mattos Gonçalves Pimentel

    Published 2001
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  3. 3
    Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology

    Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology by Raquel de Souza Gestinari-Duarte, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel

    Published 2006
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  4. 4
    Geleophysic dysplasia: Report on two sibs

    Geleophysic dysplasia: Report on two sibs by Raquel Boy, Juan Clinton Llerena, Márcia Mattos Gonçalves Pimentel, José Carlos Cabral de Almeida

    Published 1998
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  5. 5
    Síndrome do X frágil: estudo caso-controle envolvendo pacientes pré e pós-puberais com diagnóstico confirmado por análise molecular

    Síndrome do X frágil: estudo caso-controle envolvendo pacientes pré e pós-puberais com diagnóstico confirmado por análise molecular by Raquel Boy, Patrícia Santana Correia, Juan Clinton Llerena, Maria do Carmo Machado-Ferreira, Márcia Mattos Gonçalves Pimentel

    Published 2001
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  6. 6
    Investigation of CBS, MTR, RFC-1 and TC Polymorphisms as Maternal Risk Factors for Down Syndrome

    Investigation of CBS, MTR, RFC-1 and TC Polymorphisms as Maternal Risk Factors for Down Syndrome by Natalia Fintelman‐Rodrigues, Juliana C. Corrêa, J. M. Santos, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças

    Published 2009
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  7. 7
    Association between Homocysteine and Polymorphisms in MTHFR in Brazilian Obese Women

    Association between Homocysteine and Polymorphisms in MTHFR in Brazilian Obese Women by Mauara Scorsatto, Ronir Raggio Luiz, Gláucia Maria Moraes de Oliveira, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel, Glorimar Rosa

    Published 2015
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  8. 8
    β3-adrenergic receptor polymorphism is related to cardiometabolic risk factors in obese Brazilian subjects

    β3-adrenergic receptor polymorphism is related to cardiometabolic risk factors in obese Brazilian subjects by Virginia Genelhu, Emílio Antônio Francischetti, S FP Duarte, Bruno Miguel Jorge Celoria, Renata Cardoso Oliveira, Pedro Hernán Cabello, Márcia Mattos Gonçalves Pimentel

    Published 2010
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  9. 9
    Chromosome 6q deletion: Report of a new case and review of the literature

    Chromosome 6q deletion: Report of a new case and review of the literature by Raquel Boy, Márcia Mattos Gonçalves Pimentel, Ana Paula Hemerly, Maria do Perpétuo Socorro Silva, Ana Barreiro, José Carlos Cabral de Almeida, Juan Clinton Llerena

    Published 1998
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  10. 10
    The impact of Folate Pathway Polymorphisms Combined to Nutritional Deficiency As a Maternal Predisposition Factor for Down Syndrome

    The impact of Folate Pathway Polymorphisms Combined to Nutritional Deficiency As a Maternal Predisposition Factor for Down Syndrome by Cíntia Barros Santos-Rebouças, Joana Corrêa, A Bonomo, Natalia Fintelman‐Rodrigues, K. C. V. Moura, Camilla Rodrigues, J. M. Santos, Márcia Mattos Gonçalves Pimentel

    Published 2008
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  11. 11
    Short Communication Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil

    Short Communication Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil by Maria Teresa Martins Viveiros, Mónica Santos, J. M. Santos, D M Viveiros, M R M Cavalcante, A.J.M. Caldas, Márcia Mattos Gonçalves Pimentel

    Published 2015
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  12. 12
    Circulating Endocannabinoids and the Polymorphism 385C>A in Fatty Acid Amide Hydrolase (FAAH) Gene May Identify the Obesity Phenotype Related to Cardiometabolic Risk: A Study Conducted in a Brazilian Population of Complex Interethnic Admixture

    Circulating Endocannabinoids and the Polymorphism 385C>A in Fatty Acid Amide Hydrolase (FAAH) Gene May Identify the Obesity Phenotype Related to Cardiometabolic Risk: A Study Co... by C. Martins, Virginia Genelhu, Márcia Mattos Gonçalves Pimentel, Bruno Miguel Jorge Celoria, Rogerio Fabris Mangia, Teresa Aveta, Cristoforo Silvestri, Vincenzo Di Marzo, Emílio Antônio Francischetti

    Published 2015
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  13. 13
    A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay

    A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay by Cíntia Barros Santos-Rebouças, Natalia Fintelman‐Rodrigues, Lars Riff Jensen, Andreas W. Kuß, Márcia Gonçalves Ribeiro, Mário Campos, Jussara Mendonça dos Santos, Márcia Mattos Gonçalves Pimentel

    Published 2011
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  14. 14
    Research Article Polymorphisms of the mannose binding lectin (<i>MBL2</i>) gene are related to protein plasma levels but not with visceral leishmaniasis in a northeastern brazilian population

    Research Article Polymorphisms of the mannose binding lectin (<i>MBL2</i>) gene are related to protein plasma levels but not with visceral leishmaniasis in a northeaste... by Expedito Leite Silva, Ángel Pestaña, Sílvio Gomes Monteiro, A.J.M. Caldas, Fernando J. B. Patrício, Max Diêgo Cruz Santos, Marco Campos, Márcia Mattos Gonçalves Pimentel

    Published 2019
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  15. 15
    Levels of mannose-binding lectin in individuals with visceral leishmaniasis in the northeast region of Brazil

    Levels of mannose-binding lectin in individuals with visceral leishmaniasis in the northeast region of Brazil by E.L. da Silva, Mário Campos, Sílvio Gomes Monteiro, Graciomar Conceição Costa, A.L.P. Magalhães, Max Diêgo Cruz Santos, A.J.M. Caldas, Márcia Mattos Gonçalves Pimentel

    Published 2015
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  16. 16
    Exon Dosage Variations in Brazilian Patients with Parkinson’s Disease: Analysis of<i>SNCA</i>,<i>PARKIN</i>,<i>PINK1</i>and<i>DJ-1</i>Genes

    Exon Dosage Variations in Brazilian Patients with Parkinson’s Disease: Analysis of<i>SNCA</i>,<i>PARKIN</i>,<i>PINK1</i>and<i>DJ-1</i>Genes by Karla Cristina Vasconcelos Moura, Mário Campos, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, João Santos Pereira, Delson José Silva, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel

    Published 2012
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  17. 17
    Finding<i>FMR1</i>mosaicism in Fragile X syndrome

    Finding<i>FMR1</i>mosaicism in Fragile X syndrome by Thaís Fernandez Gonçalves, Jussara Mendonça dos Santos, Andressa Pereira Gonçalves, Flora Tassone, Guadalupe Mendoza‐Morales, Márcia Gonçalves Ribeiro, Evelyn Kahn, Raquel Boy, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças

    Published 2015
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  18. 18
    Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion

    Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion by Cíntia Barros Santos-Rebouças, Raquel Boy, Evelyn Quintanilha Vianna, Andressa Pereira Gonçalves, Rafael Mina Piergiorge, Bianca Barbosa Abdala, Jussara Mendonça dos Santos, Veluma Calassara, Filipe Brum Machado, Enrique Medina‐Acosta, Márcia Mattos Gonçalves Pimentel

    Published 2020
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  19. 19
    Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson’s disease

    Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson’s disease by Cláudia Bueno Abdalla-Carvalho, Cíntia Barros Santos-Rebouças, Bonfim Guimarães, Mário Campos, João Santos Pereira, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, M. Marinho e Silva, Jussara Mendonça dos Santos, Márcia Mattos Gonçalves Pimentel

    Published 2010
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  20. 20
    Genetic Analysis of<i>PARK2</i>and<i>PINK1</i>Genes in Brazilian Patients with Early-Onset Parkinson's Disease

    Genetic Analysis of<i>PARK2</i>and<i>PINK1</i>Genes in Brazilian Patients with Early-Onset Parkinson's Disease by Karla Cristina Vasconcelos Moura, Mário Campos, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, João Santos Pereira, Delson José Silva, Flávia Lima dos Santos, Fabíola da Costa Rodrigues, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel

    Published 2013
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