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Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
Kuechler, Alma; Zink, Alexander M; Wieland, Thomas; Lüdecke, Hermann-Josef; Cremer, Kirsten; Salviati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim M; Novarino, Gaia; Engels, Hartmut.
Afiliação
  • Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Zink AM; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Wieland T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Lüdecke HJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Cremer K; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Salviati L; Department Salute Donna e Bambino, Clinical Genetics Unit, University of Padova, Padova, Italy.
  • Magini P; U.O. Genetica Medica, Dipartimento d Scienze Mediche e Chirugiche (D.I.M.E.C.), Università di Bologna, Bologna, Italy.
  • Najafi K; Kariminejad Najmabadi Pathology and Genetics Center, Shahrak Gharb, Tehran, Iran.
  • Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Czeschik JC; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Aretz S; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Endele S; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Tamburrino F; Ambulatorio di Auxologia, Sindromologia e Malattie Rare, Dipartimento di Scienze Mediche e Chirurgiche (D.I.M.E.C.), Università di Bologna, Policlinico S.Orsola-Malpighi, Bologna, Italy.
  • Pinato C; Department Salute Donna e Bambino, Clinical Genetics Unit, University of Padova, Padova, Italy.
  • Clementi M; Department Salute Donna e Bambino, Clinical Genetics Unit, University of Padova, Padova, Italy.
  • Gundlach J; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Maylahn C; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Mazzanti L; Ambulatorio di Auxologia, Sindromologia e Malattie Rare, Dipartimento di Scienze Mediche e Chirurgiche (D.I.M.E.C.), Università di Bologna, Policlinico S.Orsola-Malpighi, Bologna, Italy.
  • Wohlleber E; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Schwarzmayr T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Kariminejad R; Kariminejad Najmabadi Pathology and Genetics Center, Shahrak Gharb, Tehran, Iran.
  • Schlessinger A; Department of Pharmacology and Systems Therapeutics, and Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, USA.
  • Wieczorek D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Novarino G; Institute of Science and Technology Austria, Klosterneuburg, Austria.
  • Engels H; Institute of Human Genetics, University of Bonn, Bonn, Germany.
Eur J Hum Genet ; 23(6): 753-60, 2015 Jun.
Article em En | MEDLINE | ID: mdl-25138099
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Códon sem Sentido / Deficiência Intelectual / Metiltransferases Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Códon sem Sentido / Deficiência Intelectual / Metiltransferases Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article