Your browser doesn't support javascript.
loading
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot, Patricia; Van Belzen, Martine; Van Gils, Julien; Afenjar, Alexandra; Armour, Christine M; Arveiler, Benoit; Beets, Lex; Burglen, Lydie; Busa, Tiffany; Collet, Marie; Deforges, Julie; de Vries, Bert B A; Dominguez Garrido, Elena; Dorison, Nathalie; Dupont, Juliette; Francannet, Christine; Garciá-Minaúr, Sixto; Gabau Vila, Elisabeth; Gebre-Medhin, Samuel; Gener Querol, Blanca; Geneviève, David; Gérard, Marion; Gervasini, Cristina Giovanna; Goldenberg, Alice; Josifova, Dragana; Lachlan, Katherine; Maas, Saskia; Maranda, Bruno; Moilanen, Jukka S; Nordgren, Ann; Parent, Philippe; Rankin, Julia; Reardon, Willie; Rio, Marlène; Roume, Joëlle; Shaw, Adam; Smigiel, Robert; Sojo, Amaia; Solomon, Benjamin; Stembalska, Agnieszka; Stumpel, Constance; Suarez, Francisco; Terhal, Paulien; Thomas, Simon; Touraine, Renaud; Verloes, Alain; Vincent-Delorme, Catherine; Wincent, Josephine; Peters, Dorien J M; Bartsch, Oliver.
  • Fergelot P; Department of Genetics, and INSERM U1211, University Hospital of Bordeaux, Bordeaux, France.
  • Van Belzen M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Van Gils J; Department of Genetics, University Hospital Center, Bordeaux, France.
  • Afenjar A; Unité de Génétique, Hospital Armand Trousseau-La Roche-Guyon, AP-HP, Paris, France.
  • Armour CM; Regional Genetics Unit, Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Arveiler B; Department of Genetics, and INSERM U1211, University Hospital of Bordeaux, Bordeaux, France.
  • Beets L; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
  • Burglen L; Unité de Génétique, Hospital Armand Trousseau-La Roche-Guyon, AP-HP, Paris, France.
  • Busa T; Unité de Génétique Clinique, Hospital La Timone, AP-HM, Marseille, France.
  • Collet M; Département de Génétique, Hospital Necker-Enfants Malades, AP-HP, Paris, France.
  • Deforges J; Department of Genetics, University Hospital Center, Bordeaux, France.
  • de Vries BB; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Dominguez Garrido E; Center for Biomedical Research, Logrono-La Rioja, Spain.
  • Dorison N; Departement de Neuropédiatrie, Institut Jérôme Lejeune, Paris, France.
  • Dupont J; Serviço de Genética, Departamento de Pediatria, Hospital de Santa Maria, CHLN, Lisboa, Portugal.
  • Francannet C; Service de Génétique Médicale, CHU Estaing, Clermont-Ferrand, France.
  • Garciá-Minaúr S; Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain.
  • Gabau Vila E; Genetics Clinic, Hospital de Sabadell, Corporació Sanitària Parc Taulí, Sabadell, Spain.
  • Gebre-Medhin S; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
  • Gener Querol B; Hospital de Cruces, Baracaldo, Spain.
  • Geneviève D; Service de Génétique Médicale, Hospital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France.
  • Gérard M; Service de Génétique, Hospital Clémenceau, CHU de Caen, Caen, France.
  • Gervasini CG; Department of Medical Genetics, University of Milan, Milan, Italy.
  • Goldenberg A; Unité de Génétique Clinique, Hospital Charles Nicolle, CHU Rouen, Rouen, France.
  • Josifova D; Department of Medical Genetics, Guy's and St Thomas Hospital, London, United Kingdom.
  • Lachlan K; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
  • Maas S; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
  • Maranda B; Laboratoire de Médecine Génétique, CHUQ Pavillon CHUL, Saint Foy, Canada.
  • Moilanen JS; PEDEGO Research Unit, and Medical Research Center Oulu, Department of Clinical Genetics, University of Oulu, Oulu University Hospital, Oulu, Finland.
  • Nordgren A; Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.
  • Parent P; Département de Pédiatrie et Génétique Médicale, Hospital Augustin Morvan, CHU Brest, Brest, France.
  • Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Reardon W; Our Lady's Hospital for Sick Children, Crumlin, Ireland.
  • Rio M; Unité de Génétique Clinique, Hospital La Timone, AP-HM, Marseille, France.
  • Roume J; Unité de Génétique Médicale, CHI Poissy, Saint Germain en Laye, France.
  • Shaw A; Department of Medical Genetics, Guy's and St Thomas Hospital, London, United Kingdom.
  • Smigiel R; Department of Paediatrics, Wroclaw Medical University, Wroclaw, Poland.
  • Sojo A; Hospital de Cruces, Baracaldo, Spain.
  • Solomon B; Division of Medical Genomics, Inova Translational Medical Institute, Falls Church.
  • Stembalska A; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
  • Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Suarez F; Service de Génétique, Hospital Virgen de la Salud, Toledo, Spain.
  • Terhal P; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Thomas S; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom.
  • Touraine R; Service de Génétique Clinique et Moléculaire, CHU Hôpital-Nord, Saint-Etienne, France.
  • Verloes A; Département de Génétique, CHU Robert Debré, AP-HP, Paris, France.
  • Vincent-Delorme C; Service de Génétique Médicale, Hospital d'Arras, CHU de Lille, Arras, France.
  • Wincent J; Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.
  • Peters DJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Bartsch O; Institute of Human Genetics, University Medical Centre, Mainz, Germany.
Am J Med Genet A ; 170(12): 3069-3082, 2016 12.
Article en En | MEDLINE | ID: mdl-27648933
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Preeclampsia / Síndrome de Rubinstein-Taybi / Proteína de Unión a CREB / Proteína p300 Asociada a E1A Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged / Pregnancy Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Preeclampsia / Síndrome de Rubinstein-Taybi / Proteína de Unión a CREB / Proteína p300 Asociada a E1A Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged / Pregnancy Idioma: En Año: 2016 Tipo del documento: Article