Search Results - SANDRA LEISTNER

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  1. 1

    Protocolos laboratoriais de análise molecular para investigação de doenças genéticas by Maria L. S. Pereira, Sandra Leistner, Úrsula Matte

    Published in Clinical and Biomedical Research (2022-07-01)
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  2. 2

    Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles? by Diana Rojas Malaga, Sandra Leistner-Segal, Ana Carolina Brusius-Facchin

    Published in Italian Journal of Pediatrics (2019-05-01)
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  3. 3

    Detection of human bocavirus and human metapneumovirus by real-time PCR from patients with respiratory symptoms in Southern Brazil by Diogo André Pilger, Vlademir Vicente Cantarelli, Sérgio Luis Amantea, Sandra Leistner-Segal

    Published in Memorias do Instituto Oswaldo Cruz (2011-02-01)
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  4. 4

    Clinical and molecular studies in five Brazilian cases of Friedreich ataxia Avaliação clínica e molecular de cinco pacientes brasileiros com ataxia de Friedreich by IDA V.D. SCHWARTZ, LAURA B. JARDIM, ANA C.S. PUGA, SÉRGIO COCOZZA, SANDRA LEISTNER, LUCIANE C. LIMA

    Published in Arquivos de Neuro-Psiquiatria (1999-03-01)
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  5. 5

    Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report by Erlane Marques Ribeiro, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Carlos Antônio Bruno da Silva, Ida Vanessa Schwartz

    Published in Molecular Genetics and Metabolism Reports (2014-01-01)
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  6. 6

    Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II by Sandra Leistner-Segal, Ana Carolina Brusius-Facchin, Rejane Gus, Maira Burin, Maria Teresa Sanseverino, José Antônio Magalhães, Roberto Giugliani

    Published in Clinical and Biomedical Research (2014-11-01)
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  7. 7

    Análise comparativa entre as metodologias de PCR metilação-específica (MSP), Southern blot (SB) e FISH utilizadas no diagnóstico genético molecular de pacientes com suspeita clínic... by Bruna Oliveira, Letícia da Cunha Veber, Têmis Maria Félix, Mariluce Riegel, Isabel Cristina Bandeira da Silva, Carla Streit, Sandra Leistner-Segal

    Published in Clinical and Biomedical Research (2016-08-01)
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  8. 8

    Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil by Crisle Vignol Dillenburg, Isabel Cristina Bandeira, Taiana Valente Tubino, Luciana Grazziotin Rossato, Eleonora Souza Dias, Ana Cristina Bittelbrunn, Sandra Leistner-Segal

    Published in Genetics and Molecular Biology (2012-01-01)
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  9. 9

    Diagnosis of Mucopolysaccharidoses by Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Maira Graeff Burin, Diana Rojas-Málaga, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Roberto Giugliani

    Published in Diagnostics (2020-03-01)
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  10. 10

    Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil by Jéssica Dick-Guareschi, Juliana Cristine Fontana, Maria Teresa Vieira Sanseverino, Francyne Kubaski, Leo Sekine, Nanci Félix Mesquita, Tor Gunnar Hugo Onsten, Sandra Leistner-Segal

    Published in Hematology, Transfusion and Cell Therapy (2022-07-01)
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  11. 11

    TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients. by Eriza Cristina Hahn, Camila Matzenbacher Bittar, Fernanda Sales Luis Vianna, Cristina Brinckmann Oliveira Netto, Jorge Villanova Biazús, Rodrigo Cericatto, José Antônio Cavalheiro, Márcia Portela de Melo, Carlos Henrique Menke, Eliane Rabin, Sandra Leistner-Segal, Patricia Ashton-Prolla

    Published in PLoS ONE (2018-01-01)
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  12. 12

    Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions by Juliana Alves Josahkian, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Ana Paula Pereira Scholz de Magalhães, Fernanda Medeiros Sebastião, Fernanda Bender, Jurema Fátima De Mari, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Diana Rojas Málaga, Roberto Giugliani

    Published in Genetics and Molecular Biology (2021-01-01)
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