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Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.
Fadista, João; Lund, Marie; Skotte, Line; Geller, Frank; Nandakumar, Priyanka; Chatterjee, Sumantra; Matsson, Hans; Granström, Anna Löf; Wester, Tomas; Salo, Perttu; Virtanen, Valtter; Carstensen, Lisbeth; Bybjerg-Grauholm, Jonas; Hougaard, David Michael; Pakarinen, Mikko; Perola, Markus; Nordenskjöld, Agneta; Chakravarti, Aravinda; Melbye, Mads; Feenstra, Bjarke.
Afiliação
  • Fadista J; Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark. jpsf@ssi.dk.
  • Lund M; Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
  • Skotte L; Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
  • Geller F; Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
  • Nandakumar P; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Chatterjee S; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Matsson H; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
  • Granström AL; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
  • Wester T; Paediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden.
  • Salo P; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
  • Virtanen V; Paediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden.
  • Carstensen L; Department of Health, National Institute for Health and Welfare, Helsinki, Finland.
  • Bybjerg-Grauholm J; Pediatric Surgery, Children's Hospital, University of Helsinki, Helsinki, Finland.
  • Hougaard DM; Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
  • Pakarinen M; Department of Congenital Disorders, Danish Centre for Neonatal Screening, Statens Serum Institut, Copenhagen, Denmark.
  • Perola M; Department of Congenital Disorders, Danish Centre for Neonatal Screening, Statens Serum Institut, Copenhagen, Denmark.
  • Nordenskjöld A; Pediatric Surgery, Children's Hospital, University of Helsinki, Helsinki, Finland.
  • Chakravarti A; Department of Health, National Institute for Health and Welfare, Helsinki, Finland.
  • Melbye M; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
  • Feenstra B; Paediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden.
Eur J Hum Genet ; 26(4): 561-569, 2018 04.
Article em En | MEDLINE | ID: mdl-29379196
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Proteínas Proto-Oncogênicas c-ret / Doença de Hirschsprung Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Proteínas Proto-Oncogênicas c-ret / Doença de Hirschsprung Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article