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Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Borges, Jéssica Bassani; Oliveira, Victor Fernandes; Dagli-Hernandez, Carolina; Ferreira, Glaucio Monteiro; Barbosa, Thais Kristini Almendros Afonso; da Silva Rodrigues Marçal, Elisangela; Los, Bruna; Malaquias, Vanessa Barbosa; Bortolin, Raul Hernandes; Freitas, Renata Caroline Costa; Mori, Augusto Akira; Bastos, Gisele Medeiros; Gonçalves, Rodrigo Marques; Araújo, Daniel Branco; Zatz, Henry; Bertolami, Adriana; Faludi, André Arpad; Bertolami, Marcelo Chiara; de Moraes Rego Souza, Amanda Guerra; França, João Ítalo Dias; Thurow, Helena Strelow; Hirata, Thiago Dominguez Crespo; Nakaya, Helder Takashi Imoto; Jannes, Cinthia Elim; da Costa Pereira, Alexandre; Silbiger, Vivian Nogueira; Luchessi, André Ducati; Araújo, Jéssica Nayara Góes; Nakazone, Marcelo Arruda; Carmo, Tayanne Silva; Souza, Dorotéia Rossi Silva; Moriel, Patricia; Wang, Jaqueline Yu Ting; Naslavsky, Michel Satya; Gorjão, Renata; Pithon-Curi, Tania Cristina; Curi, Rui; Fajardo, Cristina Moreno; Wang, Hui-Tzu Lin; Garófalo, Adriana Regina; Cerda, Alvaro; Sampaio, Marcelo Ferraz; Hirata, Rosario Dominguez Crespo; Hirata, Mario Hiroyuki.
Afiliación
  • Borges JB; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil; Department of Teaching and Research, Real and Benemerita Associação Portuguesa de Beneficiencia, Sao Paulo 01323-001, Brazil.
  • Oliveira VF; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil.
  • Dagli-Hernandez C; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil.
  • Ferreira GM; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil; Laboratory of Molecular Research in Cardiology, Institute of Cardiology Dante Pazzanese, Sao Paulo 04012-909, Brazil.
  • Barbosa TKAA; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil.
  • da Silva Rodrigues Marçal E; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil; Laboratory of Molecular Research in Cardiology, Institute of Cardiology Dante Pazzanese, Sao Paulo 04012-909, Brazil.
  • Los B; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil.
  • Malaquias VB; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil.
  • Bortolin RH; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil; Department of Cardiology, Boston Children's Hospital, Boston, MA 02115, United States.
  • Freitas RCC; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil; Department of Cardiac Surgery, Boston Children's Hospital, Boston, MA 02115, United States.
  • Mori AA; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil.
  • Bastos GM; Department of Teaching and Research, Real and Benemerita Associação Portuguesa de Beneficiencia, Sao Paulo 01323-001, Brazil.
  • Gonçalves RM; Medical Clinic Division, Institute of Cardiology Dante Pazzanese, Sao Paulo 04012-909, Brazil.
  • Araújo DB; Medical Clinic Division, Institute of Cardiology Dante Pazzanese, Sao Paulo 04012-909, Brazil.
  • Zatz H; Medical Clinic Division, Institute of Cardiology Dante Pazzanese, Sao Paulo 04012-909, Brazil.
  • Bertolami A; Medical Clinic Division, Institute of Cardiology Dante Pazzanese, Sao Paulo 04012-909, Brazil.
  • Faludi AA; Medical Clinic Division, Institute of Cardiology Dante Pazzanese, Sao Paulo 04012-909, Brazil.
  • Bertolami MC; Medical Clinic Division, Institute of Cardiology Dante Pazzanese, Sao Paulo 04012-909, Brazil.
  • de Moraes Rego Souza AG; Medical Clinic Division, Institute of Cardiology Dante Pazzanese, Sao Paulo 04012-909, Brazil.
  • França JÍD; Laboratory of Epidemiology and Statistics, Institute of Cardiology Dante Pazzanese, Sao Paulo 04012-909, Brazil.
  • Thurow HS; Department of Teaching and Research, Real and Benemerita Associação Portuguesa de Beneficiencia, Sao Paulo 01323-001, Brazil.
  • Hirata TDC; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil.
  • Nakaya HTI; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil.
  • Jannes CE; Laboratory of Genetics and Molecular Cardiology, Heart Institute, University of Sao Paulo, Sao Paulo 05403-900, Brazil.
  • da Costa Pereira A; Laboratory of Genetics and Molecular Cardiology, Heart Institute, University of Sao Paulo, Sao Paulo 05403-900, Brazil.
  • Silbiger VN; Department of Clinical and Toxicological Analysis, Federal University of Rio Grande do Norte, Natal 59078-900 Brazil; Northeast Biotechnology Network (RENORBIO), Graduate Program in Biotechnology, Federal University of Rio Grande do Norte, Natal 59078-900, Brazil.
  • Luchessi AD; Department of Clinical and Toxicological Analysis, Federal University of Rio Grande do Norte, Natal 59078-900 Brazil; Northeast Biotechnology Network (RENORBIO), Graduate Program in Biotechnology, Federal University of Rio Grande do Norte, Natal 59078-900, Brazil.
  • Araújo JNG; Northeast Biotechnology Network (RENORBIO), Graduate Program in Biotechnology, Federal University of Rio Grande do Norte, Natal 59078-900, Brazil.
  • Nakazone MA; Department of Cardiology and Cardiovascular Surgery, Faculdade de Medicina de São José do Rio Preto, Sao Jose do Rio Preto 15090-000, Brazil.
  • Carmo TS; Department of Cardiology and Cardiovascular Surgery, Faculdade de Medicina de São José do Rio Preto, Sao Jose do Rio Preto 15090-000, Brazil.
  • Souza DRS; Department of Biochemistry and Molecular Biology, Faculdade de Medicina de São José do Rio Preto, Sao Jose do Rio Preto 15090-000, Brazil.
  • Moriel P; Department of Clinical Pathology, Faculty of Pharmaceutical Sciences, State University of Campinas-UNICAMP, Campinas 13083-871, Brazil.
  • Wang JYT; Human Genome and Stem-Cell Research Center, Biosciences Institute, University of Sao Paulo, Sao Paulo 05508-090, Brazil.
  • Naslavsky MS; Human Genome and Stem-Cell Research Center, Biosciences Institute, University of Sao Paulo, Sao Paulo 05508-090, Brazil.
  • Gorjão R; Interdisciplinary Post-graduate Program in Health Sciences, Cruzeiro do Sul University, Sao Paulo 01311-925, Brazil.
  • Pithon-Curi TC; Interdisciplinary Post-graduate Program in Health Sciences, Cruzeiro do Sul University, Sao Paulo 01311-925, Brazil.
  • Curi R; Interdisciplinary Post-graduate Program in Health Sciences, Cruzeiro do Sul University, Sao Paulo 01311-925, Brazil.
  • Fajardo CM; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil.
  • Wang HL; Laboratory of Molecular Research in Cardiology, Institute of Cardiology Dante Pazzanese, Sao Paulo 04012-909, Brazil.
  • Garófalo AR; Laboratory of Molecular Research in Cardiology, Institute of Cardiology Dante Pazzanese, Sao Paulo 04012-909, Brazil.
  • Cerda A; Department of Basic Sciences, Center of Excellence in Translational Medicine, BIOREN, Universidad de La Frontera, Temuco 4810296, Chile.
  • Sampaio MF; Department of Cardiology, Real and Benemerita Associação Portuguesa de Beneficiencia, Sao Paulo 01323-001, Brazil.
  • Hirata RDC; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil.
  • Hirata MH; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 SP, Brazil. Electronic address: mhhirata@usp.br.
Gene ; 875: 147501, 2023 Jul 30.
Article en En | MEDLINE | ID: mdl-37217153
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proproteína Convertasa 9 / Hiperlipoproteinemia Tipo II Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Límite: Humans País/Región como asunto: America do sul / Brasil Idioma: En Revista: Gene Año: 2023 Tipo del documento: Article País de afiliación: Brasil
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proproteína Convertasa 9 / Hiperlipoproteinemia Tipo II Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Límite: Humans País/Región como asunto: America do sul / Brasil Idioma: En Revista: Gene Año: 2023 Tipo del documento: Article País de afiliación: Brasil