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Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
Löf, Christoffer; Patyra, Konrad; Kuulasmaa, Teemu; Vangipurapu, Jagadish; Undeutsch, Henriette; Jaeschke, Holger; Pajunen, Tuulia; Kero, Andreina; Krude, Heiko; Biebermann, Heike; Kleinau, Gunnar; Kühnen, Peter; Rantakari, Krista; Miettinen, Päivi; Kirjavainen, Turkka; Pursiheimo, Juha-Pekka; Mustila, Taina; Jääskeläinen, Jarmo; Ojaniemi, Marja; Toppari, Jorma; Ignatius, Jaakko; Laakso, Markku; Kero, Jukka.
Afiliação
  • Löf C; 1 Department of Physiology, Institute of Biomedicine, University of Turku , Turku, Finland .
  • Patyra K; 1 Department of Physiology, Institute of Biomedicine, University of Turku , Turku, Finland .
  • Kuulasmaa T; 2 Faculty of Health Sciences, Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland , Kuopio, Finland .
  • Vangipurapu J; 2 Faculty of Health Sciences, Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland , Kuopio, Finland .
  • Undeutsch H; 1 Department of Physiology, Institute of Biomedicine, University of Turku , Turku, Finland .
  • Jaeschke H; 1 Department of Physiology, Institute of Biomedicine, University of Turku , Turku, Finland .
  • Pajunen T; 1 Department of Physiology, Institute of Biomedicine, University of Turku , Turku, Finland .
  • Kero A; 1 Department of Physiology, Institute of Biomedicine, University of Turku , Turku, Finland .
  • Krude H; 3 Institute of Experimental Pediatric Endocrinology, Charité Universitätsmedizin Berlin , Berlin, Germany .
  • Biebermann H; 3 Institute of Experimental Pediatric Endocrinology, Charité Universitätsmedizin Berlin , Berlin, Germany .
  • Kleinau G; 3 Institute of Experimental Pediatric Endocrinology, Charité Universitätsmedizin Berlin , Berlin, Germany .
  • Kühnen P; 3 Institute of Experimental Pediatric Endocrinology, Charité Universitätsmedizin Berlin , Berlin, Germany .
  • Rantakari K; 4 Hospital for Children and Adolescents, Hospital District of Helsinki and Uusimaa , Helsinki, Finland .
  • Miettinen P; 4 Hospital for Children and Adolescents, Hospital District of Helsinki and Uusimaa , Helsinki, Finland .
  • Kirjavainen T; 4 Hospital for Children and Adolescents, Hospital District of Helsinki and Uusimaa , Helsinki, Finland .
  • Pursiheimo JP; 5 Turku Clinical Sequencing Laboratory, Institute of Biomedicine, University of Turku , Turku, Finland .
  • Mustila T; 6 Department of Pediatrics, Seinäjoki Central Hospital , Seinäjoki, Finland .
  • Jääskeläinen J; 6 Department of Pediatrics, Seinäjoki Central Hospital , Seinäjoki, Finland .
  • Ojaniemi M; 7 Department of Children and Adolescents, Oulu University Hospital , Oulu, Finland .
  • Toppari J; 1 Department of Physiology, Institute of Biomedicine, University of Turku , Turku, Finland .
  • Ignatius J; 8 Department of Pediatrics, Turku University Hospital , Turku, Finland .
  • Laakso M; 9 Department of Clinical Genetics, Turku University Hospital , Turku, Finland .
  • Kero J; 2 Faculty of Health Sciences, Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland , Kuopio, Finland .
Thyroid ; 26(9): 1215-24, 2016 09.
Article em En | MEDLINE | ID: mdl-27373559
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Autoantígenos / Receptores da Tireotropina / Hipotireoidismo Congênito / Proteínas de Ligação ao Ferro / Fator de Transcrição PAX8 / Iodeto Peroxidase / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn País como assunto: Europa Idioma: En Ano de publicação: 2016 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Autoantígenos / Receptores da Tireotropina / Hipotireoidismo Congênito / Proteínas de Ligação ao Ferro / Fator de Transcrição PAX8 / Iodeto Peroxidase / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn País como assunto: Europa Idioma: En Ano de publicação: 2016 Tipo de documento: Article