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 2019-05-01

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 2011-02-01

Emerging research groups studying Brazilian psychiatric genetics Grupos de pesquisa emergentes em estudos de genética psiquiátrica brasileira

by Giovanni Abrahão Salum, Carolina Blaya, Gisele Gus Manfro, Jair Segal, Sandra Leistner-Segal
Published 2010-03-01

Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil

by Jéssica Dick, Sandra Leistner-Segal, Filippo Pinto Vairo, Roberto Giugliani, Ida Vanessa Doederlein Schwartz
Published 2016-05-01

Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil

by Jéssica Dick, Sandra Leistner-Segal, Filippo Pinto Vairo, Roberto Giugliani, Ida Vanessa Doederlein Schwartz
Published 2016-05-01

Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital

by Rejane G. Kessler, Maria Teresa V. Sanseverino, Sandra Leistner-Segal, José A.A. Magalhães, Roberto Giugliani
Published 2008-12-01

What can HPA axis-linked genes tell us about anxiety disorders in adolescents?

by Andressa Bortoluzzi, Carolina Blaya, Eduarda Dias da Rosa, Mariana Paim, Virgínia Rosa, Sandra Leistner-Segal, Gisele Gus Manfro
Published 2015-12-01

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 2014-01-01

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 2014-11-01

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 2014-11-01

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 2012-01-01

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 2016-08-01

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 2016-08-01

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

by Ana Carolina Brusius-Facchin, Marina Siebert, Delva Leão, Diana Rojas Malaga, Gabriela Pasqualim, Franciele Trapp, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal
Published 2019-04-01

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 2020-03-01

Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease

by Guilherme Baldo, Ana Ayala, Matias Melendez, Karina Nonnemacher, Luciane Lima, Sandra Leistner Segal, Carlos Kieling, Sandra Gonçalves Vieira, Cristina Targa Ferreira, Themis Reverbel da Silveira, Roberto Giugliani, Ursula Matte
Published 2008-01-01

Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy

by Gustavo M. Viana, Nathália O. de Lima, Rosely Cavaleiro, Erik Alves, Isabel C.N. Souza, Raimunda Feio, Sandra Leistner-Segal, Ida Schwartz, Roberto Giugliani, Luiz C. Santana da Silva
Published 2011-01-01

Genomic Instability in Human Lymphocytes from Male Users of Crack Cocaine

by Thiago Aley Brites de Freitas, Roberta Passos Palazzo, Fabiana Michelsen de Andrade, César Luis Reichert, Flávio Pechansky, Félix Kessler, Caroline Brunetto de Farias, Gisele Gomes de Andrade, Sandra Leistner-Segal, Sharbel Weidner Maluf
Published 2014-09-01

Analysis of Predictive Biomarkers in Patients With Lung Adenocarcinoma From Southern Brazil Reveals a Distinct Profile From Other Regions of the Country

by Tiago F. Andreis, Bruno S. Correa, Fernanda S. Vianna, Fernanda De-Paris, Marina Siebert, Sandra Leistner-Segal, Eriza C. Hahn, Jane M. Ulbrich, Luis F.R. Rivero, Francine H. De Oliveira, Vinícius Lorandi, Patricia Ashton-Prolla, Gabriel S. Macedo
Published 2019-09-01

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 2018-01-01