Your browser doesn't support javascript.
loading
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena, Eduardo; Hervieu, Alexia; Kaserer, Teresa; Swagemakers, Sigrid M A; Goos, Jacqueline A C; Popoola, Olajumoke; Ortiz-Ruiz, Maria Jesus; Barbaro-Dieber, Tina; Bownass, Lucy; Brilstra, Eva H; Brimble, Elise; Foulds, Nicola; Grebe, Theresa A; Harder, Aster V E; Lees, Melissa M; Monaghan, Kristin G; Newbury-Ecob, Ruth A; Ong, Kai-Ren; Osio, Deborah; Reynoso Santos, Francis Jeshira; Ruzhnikov, Maura R Z; Telegrafi, Aida; van Binsbergen, Ellen; van Dooren, Marieke F; van der Spek, Peter J; Blagg, Julian; Twigg, Stephen R F; Mathijssen, Irene M J; Clarke, Paul A; Wilkie, Andrew O M.
Afiliación
  • Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.
  • Hervieu A; Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK.
  • Kaserer T; Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK.
  • Swagemakers SMA; Department of Pathology and Department of Bioinformatics, Erasmus University Medical Center, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.
  • Goos JAC; Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.
  • Popoola O; Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK.
  • Ortiz-Ruiz MJ; Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK.
  • Barbaro-Dieber T; Genetics Division, Cook Children's Medical Center, Fort Worth, TX 76102, USA.
  • Bownass L; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, Bristol BS2 8EG, UK.
  • Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3508 AB Utrecht, the Netherlands.
  • Brimble E; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton, Southampton SO16 5YA, UK.
  • Grebe TA; Department of Child Health, University of Arizona College of Medicine, Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Harder AVE; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3508 AB Utrecht, the Netherlands.
  • Lees MM; North Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3EH, UK.
  • Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
  • Newbury-Ecob RA; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, Bristol BS2 8EG, UK.
  • Ong KR; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham B15 2TG, UK.
  • Osio D; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham B15 2TG, UK.
  • Reynoso Santos FJ; Genetics Division, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA; Charles E. Schmidt College of Medicine, Florida Atlantic University, Hollywood, FL 33021, USA.
  • Ruzhnikov MRZ; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
  • van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3508 AB Utrecht, the Netherlands.
  • van Dooren MF; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.
  • van der Spek PJ; Department of Pathology and Department of Bioinformatics, Erasmus University Medical Center, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.
  • Blagg J; Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK.
  • Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.
  • Mathijssen IMJ; Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.
  • Clarke PA; Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK. Electronic address: paul.clarke@icr.ac.uk.
  • Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK. Electronic address: andrew.wilkie@imm.ox.ac.uk.
Am J Hum Genet ; 104(4): 709-720, 2019 04 04.
Article en En | MEDLINE | ID: mdl-30905399
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Mutación Missense / Complejo Mediador / Quinasa 8 Dependiente de Ciclina Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Mutación Missense / Complejo Mediador / Quinasa 8 Dependiente de Ciclina Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido