نتائج البحث - "Giuliani LR"

المؤلفون: Chaves LD; Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Carvalho LML; Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Tolezano GC; Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Pires SF; Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Costa SS; Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., de Scliar MO; Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Giuliani LR; University Hospital Maria Aparecida Pedrossian, Federal University of Mato Grosso Do Sul, Campo Grande, MS, Brazil., Bertola DR; Unidade de Genética Do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Santos-Rebouças CB; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil., Seo GH; Division of Medical Genetics, 3Billion Inc, Seoul, South Korea., Otto PA; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Rosenberg C; Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Vianna-Morgante AM; Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Krepischi ACV; Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil. ana.krepischi@ib.usp.br.

المصدر: Molecular neurobiology [Mol Neurobiol] 2023 Jul; Vol. 60 (7), pp. 3758-3769. Date of Electronic Publication: 2023 Mar 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics, Female ; Humans ; X Chromosome Inactivation/genetics ; Phenotype ; Genes, X-Linked ; Chromosomes ; Carrier Proteins/genetics

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دورية أكاديمية

Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.

المؤلفون: Josahkian JA; Department of Clinical Medicine, Hospital Universitário de Santa Maria (HUSM), Santa Maria, Rio Grande do Sul, Brazil.; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil., Brusius-Facchin AC; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil., Netto ABO; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil.; National Institute on Population Medical Genetics, INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil.; Graduate in Biological Sciences, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil., Leistner-Segal S; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil.; National Institute on Population Medical Genetics, INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil., Málaga DR; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil.; Research and Development, Grupo Fleury, São Paulo, São Paulo, Brazil., Burin MG; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil., Michelin-Tirelli K; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil., Trapp FB; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil., Cardoso-Dos-Santos AC; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.; National Institute on Population Medical Genetics, INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil., Ribeiro EM; Serviço de Genética Médica, Hospital Infantil Albert Sabin, Fortaleza, Ceará, Brazil., Kim CA; Genetic Unit, Pediatric Department, HC-FMUSP, São Paulo University, São Paulo, São Paulo, Brazil., de Siqueira ACM; Instituto de Medicina Integral Professor Fernando Figueira (IMIP), Recife, Pernambuco, Brazil., Santos ML; Neuropediatric Division, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil., do Valle DA; Neuropediatric Division, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil., da Silva RTB; State University of Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil., Horovitz DDG; Medical Genetics Department, National Institute of Women, Children and Adolescents Health Fernandes Figueira-Fiocruz/Reference Center for Rare Diseases, Rio de Janeiro, Rio de Janeiro, Brazil., de Medeiros PFV; Unidade Acadêmica de Medicina, Hospital Universitário Alcides Carneiro, Universidade Federal de Campina Grande, Campina Grande, Paraíba, Brazil., de Souza CFM; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil., Giuliani LR; Hospital Universitário Maria Aparecida Pedrossian (HUMAP), UFMS, Campo Grande, Mato Grosso do Sul, Brazil., Miguel DSCG; Escola Bahiana de Medicina e Saúde Pública, Salvador, Bahia, Brazil., Santana-da-Silva LC; Laboratory of Innate Errors of Metabolism, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil., Galera MF; Department of Pediatrics, Faculty of Medicine, Federal University of Mato Grosso, Cuiabá, Mato Grosso, Brazil., Giugliani R; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil.; National Institute on Population Medical Genetics, INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil.; Department of Genetics, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2021 Sep; Vol. 187 (3), pp. 349-356. Date of Electronic Publication: 2021 May 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mucopolysaccharidosis II*/genetics, Brazil ; Genotype ; Humans ; Male ; Mutation ; Phenotype

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دورية أكاديمية

Rare and intractable fibrodysplasia ossificans progressiva shows different PBMC phenotype possibly modulated by ascorbic acid and propranolol treatment.

المؤلفون: Nascimento DR; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Balaniuc SLB; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Palhares DB; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Underwood A; Walsh University, Division of Mathematics and Sciences, North Canton, OH, USA., Palhares MG; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Alves F; UFMG/ Department of Physiology and Biophysics, Belo Horizonte, MG, Brazil.; Centro Universitário Metodista Izabela Hendrix- IMIH, Belo Horizonte, MG, Brazil., Vieira FO; UFMG/ Department of Physiology and Biophysics, Belo Horizonte, MG, Brazil.; Centro Universitário Metodista Izabela Hendrix- IMIH, Belo Horizonte, MG, Brazil., Souza-Fagundes EM; UFMG/ Department of Physiology and Biophysics, Belo Horizonte, MG, Brazil., Giuliani LR; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Xavier PCN; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Puerto HLD; UFMG/ Department of Physiology and Biophysics, Belo Horizonte, MG, Brazil., Santos RAS; UFMG/ Department of Physiology and Biophysics, Belo Horizonte, MG, Brazil., Milsted A; Walsh University, Division of Mathematics and Sciences, North Canton, OH, USA., Brum JM; Procter & Gamble Health Care & Global Clinical Sciences, Mason, OH, USA., Silva IS; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Martins AS; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil.; UFMG/ Department of Physiology and Biophysics, Belo Horizonte, MG, Brazil.

المصدر: Intractable & rare diseases research [Intractable Rare Dis Res] 2021 Aug; Vol. 10 (3), pp. 179-189.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: International Advancement Center for Medicine & Health Research Co. (IACMHR Co.) Country of Publication: Japan NLM ID: 101586847 Publication Model: Print Cited Medium: Print ISSN: 2186-3644 (Print) Linking ISSN: 21863644 NLM ISO Abbreviation: Intractable Rare Dis Res Subsets: PubMed not MEDLINE

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دورية أكاديمية

Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.

المؤلفون: Horovitz DDG; Centro de Genética Médica, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira/FIOCRUZ, Rio de Janeiro, RJ, Brazil. Electronic address: dafne.horovitz@iff.fiocruz.br., Leão EKEA; Serviço de Genética Médica, Universidade Federal da Bahia, Salvador, BA, Brazil; Universidade do Estado da Bahia, Salvador, Bahia, Brazil., Ribeiro EM; Hospital Albert Sabin, Fortaleza, CE, Brazil., Martins AM; Centro de Referência em Erros Inatos do Metabolismo, Universidade Federal de São Paulo, SP, Brazil., Barth AL; Centro de Genética Médica, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira/FIOCRUZ, Rio de Janeiro, RJ, Brazil., Neri JICF; Centro de Reabilitação Infantil de Natal, Natal, RN, Brazil., Kerstenetzky M; Centro de Referência em Doenças Raras (RARUS), Hospital Maria Lucinda, Recife, PE, Brazil., Siqueira ACM; Centro de Tratamento de Erros Inatos do Metabolismo, Instituto de Medicina Integral Professor Fernando Figueira, Brazil., Ribeiro BFR; Fundação Hospital do Acre - FUNDHACRE, Rio Branco, AC, Brazil., Kim CA; Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Santos FC; Hospital Universitário do Maranhão, São Luís, MA, Brazil., Franco JFS; Enzyme Replacement Therapy Service at Hospital e Maternidade Celso Pierro, PUC-Campinas, Campinas, SP, Brazil; Centro de Biotecnologia/Instituto de Pesquisa de energia Nuclear/Universidade de São Paulo, CBio/IPEN/USP, São Paulo, SP, Brazil., Lichtvan LCL; Universidade Federal do Paraná, Curitiba, PR, Brazil., Giuliani LR; Faculdade de Medicina, Universidade Federal do Mato Grosso do Sul, Campo Grande, MS, Brazil., Rodrigues MDCS; Hospital Universitário Cassiano Antonio de Moraes, Universidade Federal do Espírito Santo, Empresa Brasileira de Serviços Hospitalares (HUCAM/UFES/EBSERH), Vitória, ES, Brazil., Bonatti RCF; Universidade Federal do Triângulo Mineiro, Uberaba, MG, Brazil., Teixeira TB; Associação de Pais e Amigos dos Excepcionais de Anápolis - APAE, Anápolis, GO, Brazil., Gonçalves A; Associação de Pais e Amigos dos Excepcionais de Anápolis - APAE, Anápolis, GO, Brazil., Lourenço CM; Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, SP, Brazil., Pereira ASS; Universidade do Estado da Bahia, Salvador, Bahia, Brazil., Acosta AX; Serviço de Genética Médica, Universidade Federal da Bahia, Salvador, BA, Brazil.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2021 May; Vol. 133 (1), pp. 94-99. Date of Electronic Publication: 2021 Feb 27.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

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دورية أكاديمية

Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI.

المؤلفون: Horovitz DD; Centro de Genetica Medica, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira/FIOCRUZ, Rio de Janeiro, RJ, Brazil. dafne@iff.fiocruz.br, Magalhães TS, Acosta A, Ribeiro EM, Giuliani LR, Palhares DB, Kim CA, de Paula AC, Kerstenestzy M, Pianovski MA, Costa MI, Santos FC, Martins AM, Aranda CS, Correa Neto J, Holanda GB, Cardoso L Jr, da Silva CA, Bonatti RC, Ribeiro BF, Rodrigues Mdo C, Llerena JC Jr

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2013 May; Vol. 109 (1), pp. 62-9. Date of Electronic Publication: 2013 Mar 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

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