Výsledky vyhledávání - Darine Villela

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  1. 1
    MTHFR genetic testing: is there a clinical utility?

    MTHFR genetic testing: is there a clinical utility? Autor Aline Cristiane Planello, Darine Villela, Thereza Loureiro

    Vydáno 2024
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    Editorial
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  2. 2
    A microdeletion in Alzheimer’s disease disrupts NAMPT gene

    A microdeletion in Alzheimer’s disease disrupts NAMPT gene Autor Darine Villela, David Schlesinger, Cláudia Kimie Suemoto, Lea T. Grinberg, Carla Rosenberg

    Vydáno 2014
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    Artigo
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  3. 3
    Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer’s Disease?

    Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer’s Disease? Autor Darine Villela, Cláudia Kimie Suemoto, Carlos Augusto Pasqualucci, Lea T. Grinberg, Carla Rosenberg

    Vydáno 2016
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    Artigo
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  4. 4
    Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain

    Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain Autor Darine Villela, Cláudia Kimie Suemoto, Renata Elaine Paraízo Leite, Carlos Augusto Pasqualucci, Lea T. Grinberg, P. Pearson, Carla Rosenberg

    Vydáno 2018
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    Artigo
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  5. 5
    Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

    Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene Autor Darine Villela, Lilian Kimura, David Schlesinger, Amanda Gonçalves, P. Pearson, Cláudia Kimie Suemoto, Carlos Augusto Pasqualucci, Ana Cristina Victorino Krepischi, Lea T. Grinberg, Carla Rosenberg

    Vydáno 2013
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    Artigo
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  6. 6
    Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer’s Disease Individuals

    Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer’s Disease Individuals Autor Darine Villela, Rodrigo Fernandes Ramalho, Aderbal R. T. Silva, Helena Brentani, Cláudia Kimie Suemoto, Carlos Augusto Pasqualucci, Lea T. Grinberg, Ana Cristina Victorino Krepischi, Carla Rosenberg

    Vydáno 2016
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    Artigo
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  7. 7
    A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2

    A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 Autor Michele Patricia Migliavacca, Rodrigo Ambrósio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela, Ana B. Alvarez Perez, David Valle, Elizabeth Wohler, Nara Sobreira, Salmo Raskin

    Vydáno 2023
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    Artigo
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  8. 8
    Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA

    Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA Autor Huiwen Che, Darine Villela, Eftychia Dimitriadou, Cindy Melotte, Nathalie Brison, Maria Neofytou, Kris Van Den Bogaert, Olga Tšuiko, Koenraad Devriendt, Eric Legius, Masoud Zamani Esteki, Thierry Voet, Joris Vermeesch

    Vydáno 2020
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    Artigo
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  9. 9
    Modulation of Pineal Melatonin Synthesis by Glutamate Involves Paracrine Interactions between Pinealocytes and Astrocytes through NF-<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M1"><mml:mrow><mml:mi>κ</mml:mi></mml:mrow></mml:math>B Activation

    Modulation of Pineal Melatonin Synthesis by Glutamate Involves Paracrine Interactions between Pinealocytes and Astrocytes through NF-<mml:math xmlns:mml="http://www.w3.org/1998/Mat... Autor Darine Villela, Victoria Fairbanks Atherino, Larissa de Sá Lima, A. A. Moutinho, Fernanda Gaspar do Amaral, Rafael Peres, Thaís Martins de Lima, Andréa da Silva Torrão, José Cipolla‐Neto, Cristóforo Scavone, Solange Castro Afeche

    Vydáno 2013
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    Artigo
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  10. 10
    HRD-One: CLINICAL VALIDATION AND PERFORMANCE ASSESSMENT. Comparison between Myriad’s myChoice®, SOPHiA GENETICS® SOPHiA Homologous Recombination Solution and AmoyDx® HRD Focus Panel

    HRD-One: CLINICAL VALIDATION AND PERFORMANCE ASSESSMENT. Comparison between Myriad’s myChoice®, SOPHiA GENETICS® SOPHiA Homologous Recombination Solution and AmoyDx® HRD Focus Pane... Autor Rodrigo Guarischi‐Sousa, José Eduardo Kroll, Adriano Bonaldi, Paulo Marques Pierry, Luiz Gustavo Dufner‐Almeida, Camila Alves Souza, Juliana Santos Silva, Darine Villela, Fabiana Meliso, Maria Fernanda Grillo Milanezi, Cristovam Scapulatempo‐Neto, Guilherme Lopes Yamamoto

    Vydáno 2023
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  11. 11
    Breast Cancer Detection and Treatment Monitoring Using a Noninvasive Prenatal Testing Platform: Utility in Pregnant and Nonpregnant Populations

    Breast Cancer Detection and Treatment Monitoring Using a Noninvasive Prenatal Testing Platform: Utility in Pregnant and Nonpregnant Populations Autor Liesbeth Lenaerts, Huiwen Che, Nathalie Brison, Maria Neofytou, Tatjana Jatsenko, Hanne Lefrère, Charlotte Maggen, Darine Villela, Magali Verheecke, Luc Dehaspe, Anca Croitor, Sigrid Hatse, Hans Wildiers, Patrick Neven, Vincent Vandecaveye, Giuseppe Floris, Joris Vermeesch, Frédéric Amant

    Vydáno 2020
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  12. 12
    Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case Report

    Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case Report Autor Paula Bruna Araújo, Luís Correia Sá, Rafaela Sousa, Darine Villela, Thereza Taylanne Souza Loureiro Cavalcanti, Michele Patricia Migliavacca, Marília M. Guimarães, Micheline Souza, Erika Naliato, Mariana Botelho, João Agnaldo do Nascimento, Mirna Sanchez Carvallo, Pedro Viveiros, Delmar Muniz Lourenço, Rosita Fontes, A Violante

    Vydáno 2025
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    Artigo
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  13. 13
    Chromosomal microarray analyses from 5,778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

    Chromosomal microarray analyses from 5,778 patients with neurodevelopmental disorders and congenital anomalies in Brazil Autor Ana Cristina Victorino Krepischi, Darine Villela, Silvia Souza da Costa, Patricia C. Mazzonetto, Michele Patricia Migliavacca, Fernanda Milanezi, Juliana Gomes dos Santos, Rodrigo Guarischi-Sousa, Gustavo Campana, Fernando Kok, David Schlesinger, João Paulo Kitajima, Francine Campagnari, Angela Maria Vianna‐Morgante, P. Pearson, Carla Rosenberg

    Vydáno 2022
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  14. 14
    Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting

    Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting Autor Patricia C. Mazzonetto, Darine Villela, Silvia Souza da Costa, Ana Cristina Victorino Krepischi, Fernanda Milanezi, Michele Patricia Migliavacca, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Camila Alves de Souza, José Eduardo Kroll, Marcelo G. Paula, Rodrigo Guarischi‐Sousa, Cristovam Scapulatempo‐Neto, Carla Rosenberg

    Vydáno 2023
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  15. 15
    Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting

    Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting Autor Patricia C. Mazzonetto, Darine Villela, Silvia Souza da Costa, Ana C. V. Krepischi, Fernanda Milanezi, Michele Patricia Migliavacca, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Camila Alves Souza, José Eduardo Kroll, Marcelo G. Paula, Rodrigo Guarischi‐Sousa, Cristovam Scapulatempo‐Neto, Carla Rosenberg

    Vydáno 2023
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    Artigo
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  16. 16
    Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

    Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil Autor Ana Cristina Victorino Krepischi, Darine Villela, Silvia Souza da Costa, Patricia C. Mazzonetto, Juliana Schauren, Michele Patricia Migliavacca, Fernanda Milanezi, Juliana Gomes dos Santos, Gustavo Guida, Rodrigo Guarischi‐Sousa, Gustavo Campana, Fernando Kok, David Schlesinger, João Paulo Kitajima, Francine Campagnari, Débora Romeo Bertola, Angela Maria Vianna‐Morgante, P. Pearson, Carla Rosenberg

    Vydáno 2022
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  17. 17
    Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review

    Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review Autor Adriano Bonaldi, André Yoshiaki Kashiwabara, Érica S.de Araújo, Lygia da Veiga Pereira, Alexandre Rossi Paschoal, Mayra Beraldo Andozia, Darine Villela, Maria Prates Rivas, Cláudia Kimie Suemoto, Carlos Augusto Pasqualucci, Lea T. Grinberg, Helena Brentani, Silvya Stuchi Maria‐Engler, Dirce Maria Carraro, Angela Maria Vianna‐Morgante, Carla Rosenberg, L.R. Vasques, Ana Cristina Victorino Krepischi

    Vydáno 2017
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  18. 18
    Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries

    Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries Autor Patricia C. Mazzonetto, Darine Villela, Ana Cristina Victorino Krepischi, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Marcelo G. Paula, Matheus Carvalho Bürger, Ana Gabriela Caldas Oliveira, Gustavo G. G. Fonseca, Roberto Giugliani, Mariluce Riegel, Débora Romeo Bertola, Guilherme Lopes Yamamoto, Maria Rita Passos‐Bueno, Gabriele da Silva Campos, Ana Claudia Dantas Machado, Juliana F. Mazzeu, Eduardo Perrone, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Társis Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil‐da‐Silva‐Lopes, Daniela Koeller Rodrigues Vieira, Raquel Boy, João Monteiro de Pina Neto, Cristovam Scapulatempo‐Neto, Fernanda Milanezi, Carla Rosenberg

    Vydáno 2023
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  19. 19
    Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries

    Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries Autor Patricia C. Mazzonetto, Darine Villela, Ana Cristina Victorino Krepischi, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Marcelo G. Paula, Matheus Carvalho Bürger, Ana Gabriela de Oliveira, Gustavo G. G. Fonseca, Roberto Giugliani, Mariluce Riegel, Débora Romeo Bertola, Guilherme Lopes Yamamoto, Maria Rita Passos‐Bueno, Gabriele da Silva Campos, Ana Claudia Dantas Machado, Juliana F. Mazzeu, Eduardo Perrone, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Társis Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil‐da‐Silva‐Lopes, Daniela Koeller Rodrigues Vieira, Raquel Boy, João Monteiro de Pina Neto, Cristovam Scapulatempo‐Neto, Fernanda Milanezi, Carla Rosenberg

    Vydáno 2024
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    Artigo
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