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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen, Nina; Gatinois, Vincent; Riehmer, Vera; Kayserili, Hülya; Becker, Jutta; Thoenes, Michaela; Simsek-Kiper, Pelin Özlem; Barat-Houari, Mouna; Elcioglu, Nursel H; Wieczorek, Dagmar; Tinschert, Sigrid; Sarrabay, Guillaume; Strom, Tim M; Fabre, Aurélie; Baynam, Gareth; Sanchez, Elodie; Nürnberg, Gudrun; Altunoglu, Umut; Capri, Yline; Isidor, Bertrand; Lacombe, Didier; Corsini, Carole; Cormier-Daire, Valérie; Sanlaville, Damien; Giuliano, Fabienne; Le Quan Sang, Kim-Hanh; Kayirangwa, Honorine; Nürnberg, Peter; Meitinger, Thomas; Boduroglu, Koray; Zoll, Barbara; Lyonnet, Stanislas; Tzschach, Andreas; Verloes, Alain; Di Donato, Nataliya; Touitou, Isabelle; Netzer, Christian; Li, Yun; Geneviève, David; Yigit, Gökhan; Wollnik, Bernd.
Afiliação
  • Bögershausen N; Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.
  • Gatinois V; Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.
  • Riehmer V; University of Montpellier, Montpellier, France.
  • Kayserili H; INSERM UMR1183, Montpellier, France.
  • Becker J; Institute of Human Genetics, University of Cologne, Cologne, Germany.
  • Thoenes M; Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey.
  • Simsek-Kiper PÖ; Institute of Human Genetics, University of Cologne, Cologne, Germany.
  • Barat-Houari M; Institute of Human Genetics, University of Cologne, Cologne, Germany.
  • Elcioglu NH; Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey.
  • Wieczorek D; Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.
  • Tinschert S; INSERM UMR1183, Montpellier, France.
  • Sarrabay G; Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul, Turkey.
  • Strom TM; Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany.
  • Fabre A; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Germany.
  • Baynam G; Zentrum für Humangenetik, Medizinische Universität, Innsbruck, Austria.
  • Sanchez E; Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.
  • Nürnberg G; University of Montpellier, Montpellier, France.
  • Altunoglu U; INSERM UMR1183, Montpellier, France.
  • Capri Y; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Isidor B; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Lacombe D; Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.
  • Corsini C; Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Australia.
  • Cormier-Daire V; Western Australian Register of Developmental Anomalies, Perth, Australia.
  • Sanlaville D; Telethon Kids Institute, Perth, Australia.
  • Giuliano F; School of Paediatrics and Child Health, University of Western Australia, Perth, Australia.
  • Le Quan Sang KH; INSERM UMR1183, Montpellier, France.
  • Kayirangwa H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Nürnberg P; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Meitinger T; Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.
  • Boduroglu K; Department of Genetics, Nantes University Hospital, Nantes, France.
  • Zoll B; Department of Medical Genetics, Bordeaux University, CHU Bordeaux, INSERM U1211, Bordeaux, France.
  • Lyonnet S; University of Montpellier, Montpellier, France.
  • Tzschach A; INSERM UMR1183, Montpellier, France.
  • Verloes A; Department of Medical Genetics, Reference Center for Developmental Abnormalities, CHU, Montpellier, France.
  • Di Donato N; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.
  • Touitou I; Service de Génétique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France.
  • Netzer C; HCL Genetic Department, INSERM U1028 CNRS UMR 5292, UCBL1, CRNL, GENDEV Team, Lyon, France.
  • Li Y; Department of Medical Genetics, l'Archet II Hospital, Nice, France.
  • Geneviève D; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.
  • Yigit G; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.
  • Wollnik B; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Hum Mutat ; 37(9): 847-64, 2016 09.
Article em En | MEDLINE | ID: mdl-27302555
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Proteínas Nucleares / Doenças Vestibulares / Proteínas de Ligação a DNA / Face / Histona Desmetilases / Doenças Hematológicas / Mutação / Proteínas de Neoplasias Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Proteínas Nucleares / Doenças Vestibulares / Proteínas de Ligação a DNA / Face / Histona Desmetilases / Doenças Hematológicas / Mutação / Proteínas de Neoplasias Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos