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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
Reggiani, Claudio; Coppens, Sandra; Sekhara, Tayeb; Dimov, Ivan; Pichon, Bruno; Lufin, Nicolas; Addor, Marie-Claude; Belligni, Elga Fabia; Digilio, Maria Cristina; Faletra, Flavio; Ferrero, Giovanni Battista; Gerard, Marion; Isidor, Bertrand; Joss, Shelagh; Niel-Bütschi, Florence; Perrone, Maria Dolores; Petit, Florence; Renieri, Alessandra; Romana, Serge; Topa, Alexandra; Vermeesch, Joris Robert; Lenaerts, Tom; Casimir, Georges; Abramowicz, Marc; Bontempi, Gianluca; Vilain, Catheline; Deconinck, Nicolas; Smits, Guillaume.
Afiliação
  • Reggiani C; Interuniversity Institute of Bioinformatics in Brussels ULB-VUB, Brussels, 1050, Belgium.
  • Coppens S; Machine Learning Group, Université Libre de Bruxelles, Brussels, 1050, Belgium.
  • Sekhara T; Department of Neurology, Hôpital Erasme, Université Libre de Bruxelles, Brussels, 1070, Belgium.
  • Dimov I; Neuropediatrics, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, 1020, Belgium.
  • Pichon B; Neuropediatrics, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, 1020, Belgium.
  • Lufin N; Present address: Neuropediatrics, Clinique Saint-Anne Saint-Rémy - CHIREC, Brussels, 1070, Belgium.
  • Addor MC; Faculté de Médecine, Université Libre de Bruxelles, Brussels, 1070, Belgium.
  • Belligni EF; ULB Center of Medical Genetics, Hôpital Erasme, Université Libre de Bruxelles, Brussels, 1070, Belgium.
  • Digilio MC; Interuniversity Institute of Bioinformatics in Brussels ULB-VUB, Brussels, 1050, Belgium.
  • Faletra F; ULB Center of Medical Genetics, Hôpital Erasme, Université Libre de Bruxelles, Brussels, 1070, Belgium.
  • Ferrero GB; Service de Médecine Génétique, Centre Hospitalier Universitaire Vaudois CHUV, Lausanne, 1011, Switzerland.
  • Gerard M; Department of Public Health and Pediatrics, University of Torino, Turin, 10126, Italy.
  • Isidor B; Medical Genetics, Bambino Gesù Pediatric Hospital, Rome, 00165, Italy.
  • Joss S; S.C. Medical Genetics, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, 34137, Italy.
  • Niel-Bütschi F; Department of Public Health and Pediatrics, University of Torino, Turin, 10126, Italy.
  • Perrone MD; Laboratory of Medical Genetics, CHU de Caen - Hôpital Clémenceau, Caen, 14033, Caen Cedex, France.
  • Petit F; Service de Génétique Médicale, CHU de Nantes, Nantes, 44093, Nantes Cedex 1, France.
  • Renieri A; West of Scotland Clinical Genetics Service, South Glasgow University Hospitals, Glasgow, G51 4TF, UK.
  • Romana S; Service de Médecine Génétique, Centre Hospitalier Universitaire Vaudois CHUV, Lausanne, 1011, Switzerland.
  • Topa A; S.C. Medical Genetics, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, 34137, Italy.
  • Vermeesch JR; Present address: Assisted Fertilization Department, Casa di Cura Città di Udine, Udine, 33100, Italy.
  • Lenaerts T; Service de Génétique, CHRU de Lille - Hôpital Jeanne de Flandre, Lille, 59000, France.
  • Casimir G; Medical Genetics, University of Siena, Siena, 53100, Italy.
  • Abramowicz M; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, 53100, Italy.
  • Bontempi G; Service d'Histologie Embryologie Cytogénétique, Hôpital Necker Enfants Malades, Paris, 75015, France.
  • Vilain C; Université Paris Descartes - Institut IMAGINE, Paris, 75015, France.
  • Deconinck N; Department of Clinical Pathology and Genetics, Sahlgrenska University Hospital, Gothenburg, 413 45, Sweden.
  • Smits G; Department of Human Genetics, University of Leuven, Leuven, 3000, Belgium.
Genome Med ; 9(1): 67, 2017 07 19.
Article em En | MEDLINE | ID: mdl-28724449
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Éxons / Regiões Promotoras Genéticas / Proteínas Supressoras de Tumor / Guanilato Quinases / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Éxons / Regiões Promotoras Genéticas / Proteínas Supressoras de Tumor / Guanilato Quinases / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article