A Genética na Fibrose Cística

by Maria Luiza Saraiva-Pereira, Mariana Fitarelli-Kiehl, Maria Teresa Vieira Sanseverino
Published 2011-07-01

Molecular Analysis of Spinal Muscular Atrophy: a genotyping protocol based on TaqMan® real-time PCR

by Fernanda Marques de Souza Godinho, Hugo Bock, Tailise Conte Gheno, Maria Luiza Saraiva-Pereira
Published 2012-01-01

Contribuição da análise molecular do gene regulador da condutância transmembrana na fibrose cística na investigação diagnóstica de pacientes com suspeita de fibrose cística leve ou...

by Vinícius Buaes Dal'Maso, Lucas Mallmann, Marina Siebert, Laura Simon, Maria Luiza Saraiva-Pereira, Paulo de Tarso Roth Dalcin
Published 2013-04-01

An effective device for generating alginate microcapsules

by Tatiana A.B. Bressel, Ana Helena Paz, Guilherme Baldo, Elizabeth O. Cirne Lima, Ursula Matte, Maria Luiza Saraiva-Pereira
Published 2008-01-01

State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change

by Gabriel Vasata Furtado, Camila Maria de Oliveira, Gabriela Bolzan, Jonas Alex Morales Saute, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity

by Osvaldo Artigalás, Giorgio Paskulin, Mariluce Riegel, Maira Burin, Maria Luiza Saraiva-Pereira, Sharbel Maluf, Andrea Kiss, Ida Vanessa D. Schwartz
Published 2012-01-01

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling

by Renata Voltolini Velho, Taciane Alegra, Fernanda Sperb, Nataniel Floriano Ludwig, Maria Luiza Saraiva-Pereira, Ursula Matte, Ida V.D. Schwartz
Published 2014-01-01

Diagnóstico de Fibrose Cística Através de Pesquisa Genética Expandida em Paciente Adulto com Apresentação Atípica

by Flávia Gabe Beltrami, Vinícius Buaes Dal Maso, Guilherme Seara Muller, Lucas Mallmann, Maria Luiza Saraiva-Pereira, Paulo de Tarso Roth Dalcin
Published 2011-07-01

Responsividade à tetrahidrobiopterina em pacientes com deficiência de fenilalanina hidroxilase

by Luciana Giugliani, Angela Sitta, Carmen R Vargas, Luiz C Santana-da-Silva, Tatiéle Nalin, Maria Luiza Saraiva-Pereira, Roberto Giugliani, Ida Vanessa D Schwartz
Published 2011-06-01

Brain-derived neurotrophic factor gene val66met polymorphism and executive functioning in patients with bipolar disorder Polimorfismo do gene do fator neurotrófico derivado do cére...

by Juliana Fernandes Tramontina, Denise Yates, Pedro Vieira da Silva Magalhães, Clarissa Trentini, Márcia Kauer Sant'Anna, Gabriel Rodrigo Fries, Hugo Bock, Maria Luiza Saraiva-Pereira, Flávio Kapczinski
Published 2009-06-01

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

by Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani
Published 2019-04-01

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).

by Teresa Almeida, Isabel Alonso, Sandra Martins, Eliana Marisa Ramos, Luísa Azevedo, Kinji Ohno, António Amorim, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Tohru Matsuura, Jorge Sequeiros, Isabel Silveira
Published 2009-01-01

Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese

by Fernanda Aparecida Maggi, Pedro Braga-Neto, Hsin Fen Chien, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Mariana Callil Voos, José Luiz Pedroso, Orlando Graziani Povoas Barsottini

GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening Polimorfismos GSTM1, GSTT1 e GSTP1, fatores...

by Ernestina Silva de Aguiar, Juliana Giacomazzi, Aishameriane Venes Schmidt, Hugo Bock, Maria Luiza Saraiva-Pereira, Lavínia Schuler-Faccini, Dakir Duarte Filho, Pollyanna Almeida Costa dos Santos, Roberto Giugliani, Maira Caleffi, Suzi Alves Camey, Patrícia Ashton-Prolla
Published 2012-06-01

Niemann-Pick disease type C: a case series of Brazilian patients

by Paulo José Lorenzoni, Elaine Cardoso, Ana C. S. Crippa, Charles Marques Lourenço, Fernanda Timm Seabra Souza, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Salmo Raskin, Isac Bruck, Cláudia S. K. Kay, Rosana H. Scola, Lineu C.Werneck, Hélio A. G. Teive
Published 2014-03-01

Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions

by Raphael Machado de Castilhos, José Augusto dos Santos, Marina Coutinho Augustin, José Luiz Pedroso, Orlando Barsottini, Roberta Saba, Henrique Ballalai Ferraz, Clécio Godeiro Junior, Fernando Regla Vargas, Diego Zanotti Salarini, Gabriel Vasata Furtado, Marcia Polese-Bonatto, Luiza Paulsen Rodrigues, Lucas Schenatto Sena, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

by Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Lillian Gonçalves Campos, Adriana Vanessa Santini Deyl, Maira Graeff Burin, Carmen Regla Vargas, Ursula da Silveira Matte, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Leonardo Modesti Vedolin, Lauro José Gregianin, Laura Bannach Jardim

BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome

by Ingrid Petroni Ewald, Silvia Liliana Cossio, Edenir Inez Palmero, Manuela Pinheiro, Ivana Lucia de Oliveira Nascimento, Taisa Manuela Bonfim Machado, Kiyoko Abe Sandes, Betânia Toralles, Bernardo Garicochea, Patricia Izetti, Maria Luiza Saraiva Pereira, Hugo Bock, Fernando Regla Vargas, Miguel Ângelo Martins Moreira, Ana Peixoto, Manuel R. Teixeira, Patricia Ashton-Prolla
Published 2016-06-01

The progression rate of spinocerebellar ataxia type 2 changes with stage of disease

by Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D. Locks-Coelho, Amanda Senna P. Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, on behalf of Rede Neurogenética
Published 2018-01-01

Population medical genetics: translating science to the community

by Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler-Faccini, Francyne Kubaski
Published 2019-04-01