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Genetics and Molecular Biology
Print version ISSN 1415-4757On-line version ISSN 1678-4685

 

Table of contents
Genet. Mol. Biol. vol.42 no.1 supl.1 Ribeirão Preto  2019

 Articles
  
 ·  Medical Genetics – Special issue dedicated to the 35th anniversary of the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
Giugliani, Roberto

        · text in English     · English ( pdf )
  
 ·  Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
Vieira, Taiane Alves; Trapp, Franciele Barbosa; Souza, Carolina Fischinger Moura de; Faccini, Lavínia Schuler; Jardim, Laura Bannach; Schwartz, Ida Vanessa Doederlein; Riegel, Mariluce; Vargas, Carmen Regla; Burin, Maira Graeff; Leistner-Segal, Sandra; Ashton-Prolla, Patrícia; Giugliani, Roberto

        · abstract in English     · text in English     · English ( pdf )
  
 ·  Lysosomal diseases: Overview on current diagnosis and treatment
Poswar, Fabiano de Oliveira; Vairo, Filippo; Burin, Maira; Michelin-Tirelli, Kristiane; Brusius-Facchin, Ana Carolina; Kubaski, Francyne; Souza, Carolina Fischinger Moura de; Baldo, Guilherme; Giugliani, Roberto

        · abstract in English     · text in English     · English ( pdf )
  
 ·  Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center
Wajner, Moacir; Sitta, Angela; Kayser, Aline; Deon, Marion; Groehs, Ana C.; Coelho, Daniella M.; Vargas, Carmen R.

        · abstract in English     · text in English     · English ( pdf )
  
 ·  Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome
Corrêa, Thiago; Feltes, Bruno César; Riegel, Mariluce

        · abstract in English     · text in English     · English ( pdf )
  
 ·  Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
Málaga, Diana Rojas; Brusius-Facchin, Ana Carolina; Siebert, Marina; Pasqualim, Gabriela; Saraiva-Pereira, Maria Luiza; Souza, Carolina F.M de; Schwartz, Ida V.D.; Matte, Ursula; Giugliani, Roberto

        · abstract in English     · text in English     · English ( pdf )
  
 ·  Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart
Brusius-Facchin, Ana Carolina; Siebert, Marina; Leão, Delva; Malaga, Diana Rojas; Pasqualim, Gabriela; Trapp, Franciele; Matte, Ursula; Giugliani, Roberto; Leistner-Segal, Sandra

        · abstract in English     · text in English     · English ( pdf )
  
 ·  Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era
Macedo, Gabriel S.; Alemar, Barbara; Ashton-Prolla, Patricia

        · abstract in English     · text in English     · English ( pdf )
  
 ·  Performance of the Gail and Tyrer-Cuzick breast cancer risk assessment models in women screened in a primary care setting with the FHS-7 questionnaire
Vianna, Fernanda Sales Luiz; Giacomazzi, Juliana; Oliveira Netto, Cristina Brinckmann; Nunes, Luciana Neves; Caleffi, Maira; Ashton-Prolla, Patricia; Camey, Suzi Alves

        · abstract in English     · text in English     · English ( pdf )
  
 ·  State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change
Furtado, Gabriel Vasata; Oliveira, Camila Maria de; Bolzan, Gabriela; Saute, Jonas Alex Morales; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach

        · abstract in English     · text in English     · English ( pdf )
  
 ·  Cyclic pamidronate treatment for osteogenesis imperfecta: Report from a Brazilian reference center
Pinheiro, Bruna; Zambrano, Marina B.; Vanz, Ana Paula; Brizola, Evelise; Souza, Liliane Todeschini de; Félix, Têmis Maria

        · abstract in English     · text in English     · English ( pdf )
  
 ·  Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases
Poletto, Edina; Pasqualim, Gabriela; Giugliani, Roberto; Matte, Ursula; Baldo, Guilherme

        · abstract in English     · text in English     · English ( pdf )
  
 ·  The natural history of pregnancies with prenatal diagnosis of Trisomy 18 or Trisomy 13: Retrospective cases of a 23-year experience in a Brazilian public hospital
Duque, Julio Alejandro Peña; Ferreira, Charles Francisco; Zachia, Suzana de Azevedo; Sanseverino, Maria Teresa Vieira; Gus, Rejane; Magalhães, José Antônio de Azevedo

        · abstract in English     · text in English     · English ( pdf )
  
 ·  From abortion-inducing medications to Zika Virus Syndrome: 27 years experience of the First Teratogen Information Service in Latin America
Schüler-Faccini, Lavinia; Sanseverino, Maria Teresa Vieira; Abeche, Alberto Mantovani; Vianna, Fernanda Sales Luiz; Fraga, Lucas Rosa; Rocha, Anastacia Guimaraes; Silva, André Anjos da; Souza, Paulo Ricardo Assis de; Hilgert, Artur Hartmann; Barbosa, Camila Pocharski; Kauppinem, Caroline Grasso; Martins, Daniela Fernandes; Santos, Daniela Silva; Colpes, Gabriel Henrique; Ecco, Gabriela; Silva, Helena Margot Flores Soares da; Penteado, Louise Piva; Santos, Tatiane dos

        · abstract in English     · text in English     · English ( pdf )
  
 ·  Clinical research challenges in rare genetic diseases in Brazil
Giugliani, Luciana; Vanzella, Claudia; Zambrano, Marina Bauer; Donis, Karina Carvalho; Wallau, Thaís Klassmann Wendland; Costa, Fernando Machado da; Giugliani, Roberto

        · abstract in English     · text in English     · English ( pdf )
  
 ·  Population medical genetics: translating science to the community
Giugliani, Roberto; Bender, Fernanda; Couto, Rowena; Bochernitsan, Aline; Brusius-Facchin, Ana Carolina; Burin, Maira; Amorim, Tatiana; Acosta, Angelina Xavier; Purificação, Antônio; Leistner-Segal, Sandra; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Matte, Ursula; Riegel, Mariluce; Cardoso-dos-Santos, Augusto César; Rodrigues, Graziella; Oliveira, Marcelo Zagonel de; Tagliani-Ribeiro, Alice; Heck, Selia; Dresch, Vanusa; Schuler-Faccini, Lavínia; Kubaski, Francyne

        · abstract in English     · text in English     · English ( pdf )
  

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