Zobrazeno 1 - 10 of 751 pro vyhledávání: '"Leistner-Segal S"'
2
Akademický článek
Diagnostic and treatment strategies in mucopolysaccharidosis VI
Autor: Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, Giugliani R
Publikováno v: The Application of Clinical Genetics, Vol 2015, Iss default, Pp 245-255 (2015)
Filippo Vairo,1–3 Andressa Federhen,1,3,4 Guilherme Baldo,1,2,5–7 Mariluce Riegel,1,6 Maira Burin,1 Sandra Leistner-Segal,1,8 Roberto Giugliani1,5,6,81Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; 2Departm
Externí odkaz: https://doaj.org/article/6df448a1c1c848b0be932806521d2278
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3
Akademický článek
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.
Autor: Dos Santos-Lopes SS; Biology Department, Biology Department, State of Paraiba University, Campina Grande, Paraiba, Brazil., de Oliveira JMF; Biology Department, Biology Department, State of Paraiba University, Campina Grande, Paraiba, Brazil., de Queiroga Nascimento D; Biology Department, Biology Department, State of Paraiba University, Campina Grande, Paraiba, Brazil., Montenegro YHA; Biology Department, Biology Department, State of Paraiba University, Campina Grande, Paraiba, Brazil., Leistner-Segal S; National Institute of Populational Medical Genetics-INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil., Brusius-Facchin AC; National Institute of Populational Medical Genetics-INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil., Eufrazino Gondim C; Alcides Carneiro University Hospital - HUAC, Federal University of Campina Grande, Campina Grande, Paraiba, Brazil., Giugliani R; National Institute of Populational Medical Genetics-INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.; Department of Genetics, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil., de Medeiros PFV; Alcides Carneiro University Hospital - HUAC, Federal University of Campina Grande, Campina Grande, Paraiba, Brazil.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Oct; Vol. 185 (10), pp. 2929-2940. Date of Electronic Publication: 2021 Jun 02.
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4
Akademický článek
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Autor: 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.
Publikováno v: 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.
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5
Akademický článek
Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil.
Autor: Kersting N; Universidade Federal do Rio Grande do Sul (UFRGS), Programa de Pós-Graduação em Medicina: Ciências Médicas, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre (HCPA), Serviço de Genética Médica, Porto Alegre, RS, Brazil., Fontana JC; Hospital de Clínicas de Porto Alegre (HCPA), Serviço de Genética Médica, Porto Alegre, RS, Brazil., Athayde FP; Hospital de Clínicas de Porto Alegre (HCPA), Serviço de Genética Médica, Porto Alegre, RS, Brazil., Carlotto FM; Universidade de Passo Fundo (UPF), Passo Fundo, RS, Brazil., Machado BA; Hospital São Vicente de Paulo, Serviço de Hemoterapia, Passo Fundo, Brazil., Araújo CDSR; Universidade de Passo Fundo (UPF), Passo Fundo, RS, Brazil.; Hospital São Vicente de Paulo, Serviço de Hemoterapia, Passo Fundo, Brazil., Sekine L; Universidade Federal do Rio Grande do Sul (UFRGS), Programa de Pós-Graduação em Medicina: Ciências Médicas, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Hemoterapia, Porto Alegre, RS, Brazil.; Universidade Federal do Rio Grande do Sul (UFRGS), Faculdade de Medicina (Famed), Departamento de Medicina Interna, Porto Alegre, RS, Brazil., Onsten TGH; Hospital de Clínicas de Porto Alegre, Serviço de Hemoterapia, Porto Alegre, RS, Brazil.; Universidade Federal do Rio Grande do Sul (UFRGS), Faculdade de Medicina (Famed), Departamento de Medicina Interna, Porto Alegre, RS, Brazil., Leistner-Segal S; Universidade Federal do Rio Grande do Sul (UFRGS), Programa de Pós-Graduação em Medicina: Ciências Médicas, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre (HCPA), Serviço de Genética Médica, Porto Alegre, RS, Brazil.
Publikováno v: Genetics and molecular biology [Genet Mol Biol] 2023 May 22; Vol. 46 (2), pp. e20220230. Date of Electronic Publication: 2023 May 22 (Print Publication: 2023).
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6
Akademický článek
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Autor: Montenegro YHA; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics/UFRGS, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., de Souza CFM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Kubaski F; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Trapp FB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Burin MG; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Michelin-Tirelli K; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Leistner-Segal S; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Facchin ACB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Medeiros FS; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Giugliani L; PTC Farmacêutica do Brasil LTDA, São Paulo, Brazil., Ribeiro EM; Medical Genetics Service, Hospital Infantil Albert Sabin, Fortaleza, Brazil., Lourenço CM; Centro Universitário Estácio, Ribeirão Preto, Brazil.; Faculdade de Medicina de São José do Rio Preto, FAMERP, São José do Rio Preto, Brazil., Cardoso-Dos-Santos AC; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics/UFRGS, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil., Ribeiro MG; Medical Genetics Service, Instituto de Puericultura e Pediatria Martagão Gesteira/UFRJ, Rio de Janeiro, Brazil., Kim CA; Genetic Unity, Instituto da Criança HC FMUSP, São Paulo, Brazil., Castro MAA; Genetic Unity, Instituto da Criança HC FMUSP, São Paulo, Brazil., Embiruçu EK; Science of Life Department, Universidade do Estado da Bahia, Salvador, Brazil., Steiner CE; Department of Medical Genetics and Genomic Medicine, Faculdade de Ciências Médicas/UNICAMP, São Paulo, Brazil., Moreira MLC; Hospital Santa Casa da Misericordia, Campo Grande, Brazil., Montano HQ; Hospital Verdi Cevallos, Portoviejo, Ecuador., Baldo G; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics/UFRGS, Porto Alegre, Brazil., Giugliani R; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics/UFRGS, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 760-767. Date of Electronic Publication: 2021 Nov 22.
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Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance
Autor: Cornejo-Olivas, M., Inca-Martinez, M., Castilhos, R.M., Furtado, G.V., Mattos, E.P., Bampi, G.B., Leistner-Segal, S., Marca, V., Mazzetti, P., Saraiva-Pereira, M.L., Jardim, L.B., Rede Neurogenetica
Publikováno v: Cerebellum (London, England). 19(2)
Relative frequency of hereditary ataxias remains unknown in many regions of Latin America. We described the relative frequency in spinocerebellar ataxias (SCA) due to (CAG)n and to (ATTCT)n expansions, as well as Friedreich ataxia (FRDA), among cases
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3320cf70e4582daec806a5fd3848456
https://pubmed.ncbi.nlm.nih.gov/31940124
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8
Akademický článek
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study.
Autor: Couto RR; Medical Genetics Service (R.R.C., F.K., M.S., T.M.F., A.C.B.-F., S.L.-S.), Hospital de Clínicas de Porto Alegre-HCPA; Postgraduate Program in Medicine: Child and Adolescent Health (R.R.C., T.M.F., S.L.-S.), UFRGS; and Postgraduate Program in Genetics and Molecular Biology (F.K.), PPGMB, UFRGS, Porto Alegre, RS, Brazil., Kubaski F; Medical Genetics Service (R.R.C., F.K., M.S., T.M.F., A.C.B.-F., S.L.-S.), Hospital de Clínicas de Porto Alegre-HCPA; Postgraduate Program in Medicine: Child and Adolescent Health (R.R.C., T.M.F., S.L.-S.), UFRGS; and Postgraduate Program in Genetics and Molecular Biology (F.K.), PPGMB, UFRGS, Porto Alegre, RS, Brazil., Siebert M; Medical Genetics Service (R.R.C., F.K., M.S., T.M.F., A.C.B.-F., S.L.-S.), Hospital de Clínicas de Porto Alegre-HCPA; Postgraduate Program in Medicine: Child and Adolescent Health (R.R.C., T.M.F., S.L.-S.), UFRGS; and Postgraduate Program in Genetics and Molecular Biology (F.K.), PPGMB, UFRGS, Porto Alegre, RS, Brazil., Félix TM; Medical Genetics Service (R.R.C., F.K., M.S., T.M.F., A.C.B.-F., S.L.-S.), Hospital de Clínicas de Porto Alegre-HCPA; Postgraduate Program in Medicine: Child and Adolescent Health (R.R.C., T.M.F., S.L.-S.), UFRGS; and Postgraduate Program in Genetics and Molecular Biology (F.K.), PPGMB, UFRGS, Porto Alegre, RS, Brazil., Brusius-Facchin AC; Medical Genetics Service (R.R.C., F.K., M.S., T.M.F., A.C.B.-F., S.L.-S.), Hospital de Clínicas de Porto Alegre-HCPA; Postgraduate Program in Medicine: Child and Adolescent Health (R.R.C., T.M.F., S.L.-S.), UFRGS; and Postgraduate Program in Genetics and Molecular Biology (F.K.), PPGMB, UFRGS, Porto Alegre, RS, Brazil., Leistner-Segal S; Medical Genetics Service (R.R.C., F.K., M.S., T.M.F., A.C.B.-F., S.L.-S.), Hospital de Clínicas de Porto Alegre-HCPA; Postgraduate Program in Medicine: Child and Adolescent Health (R.R.C., T.M.F., S.L.-S.), UFRGS; and Postgraduate Program in Genetics and Molecular Biology (F.K.), PPGMB, UFRGS, Porto Alegre, RS, Brazil.
Publikováno v: Neurology. Genetics [Neurol Genet] 2022 Oct 26; Vol. 8 (6), pp. e200024. Date of Electronic Publication: 2022 Oct 26 (Print Publication: 2022).
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9
Akademický článek
Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil.
Autor: Dick-Guareschi J; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Fontana JC; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Sanseverino MTV; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Kubaski F; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Sekine L; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Mesquita NF; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Onsten TGH; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Leistner-Segal S; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address: ssegal@hcpa.edu.br.
Publikováno v: Hematology, transfusion and cell therapy [Hematol Transfus Cell Ther] 2022 Jul-Sep; Vol. 44 (3), pp. 379-385. Date of Electronic Publication: 2021 Mar 16.
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