Rezultaty - Adriano Bonaldi

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  1. 1
    Investigação de mecanismos genéticos e epigenéticos em distúrbios do crescimento humano

    Investigação de mecanismos genéticos e epigenéticos em distúrbios do crescimento humano od Adriano Bonaldi

    Wydane 2016
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  2. 2
    The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

    The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with acampomelic campomelic dyspla... od Ana Carolina Fonseca, Adriano Bonaldi, Débora Romeo Bertola, Chong Ae Kim, Paulo Alberto Otto, Angela Maria Vianna‐Morgante

    Wydane 2013
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  3. 3
    The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

    The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation od Ana Carolina Fonseca, Adriano Bonaldi, Simone Aparecida Siqueira Fonseca, Paulo Alberto Otto, Fernando Kok, Mads Bak, Niels Tommerup, Angela Maria Vianna‐Morgante

    Wydane 2015
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  4. 4
    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... od 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

    Wydane 2023
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  5. 5
    COMPARATIVE ASSESSMENT OF CYTOGENETIC AND MOLECULAR APPROACHES FOR PRODUCT OF CONCEPTION: A RETROSPECTIVE STUDY OF 726 CASES

    COMPARATIVE ASSESSMENT OF CYTOGENETIC AND MOLECULAR APPROACHES FOR PRODUCT OF CONCEPTION: A RETROSPECTIVE STUDY OF 726 CASES od Natalia Juliana Nardelli Gonçalves, Camila Madaschi, Priscila Paternostro, Kalina Renata Endo, Adriano Bonaldi, Milena A. de Oliveira, Maria Fernanda Grillo Milanezi, Keitty Benevides Pereira, Barbara De Bellis, Natacha Pinho Pinho Ribino, Viviane de Cássia Jesus Da Silva, Ciro Dresch Martinhago

    Wydane 2022
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  6. 6
    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 od 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

    Wydane 2023
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  7. 7
    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 od 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

    Wydane 2023
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  8. 8
    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 od 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

    Wydane 2017
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
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  9. 9
    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 od 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

    Wydane 2023
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
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  10. 10
    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 od 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

    Wydane 2024
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