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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen, Charlotte W; Willemsen, Marjolein H; de Munnik, Sonja; van Bon, Bregje W M; de Leeuw, Nicole; Verrips, Aad; Kant, Sarina G; Jones, Elizabeth A; Brunner, Han G; van Loon, Rosa L E; Smeets, Eric E J; van Haelst, Mieke M; van Haaften, Gijs; Nordgren, Ann; Malmgren, Helena; Grigelioniene, Giedre; Vermeer, Sascha; Louro, Pedro; Ramos, Lina; Maal, Thomas J J; van Heumen, Celeste C; Yntema, Helger G; Carels, Carine E L; Kleefstra, Tjitske.
Afiliación
  • Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Munnik S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Bon BW; 1] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands [2] South Australian Clinical Genetics Service, SA Pathology at Women's and Children's Hospital, North Adelaide, SA, Australia.
  • de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Verrips A; Department of Paediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.
  • Kant SG; Center for Human and Clinical Genetics, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Jones EA; 1] Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK [2] Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of
  • Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Loon RL; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Smeets EE; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • van Haelst MM; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van Haaften G; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Nordgren A; 1] Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden [2] Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Malmgren H; 1] Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden [2] Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Grigelioniene G; 1] Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden [2] Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Vermeer S; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • Louro P; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Ramos L; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Maal TJ; Department of Oral and Maxillofacial Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Heumen CC; Centre for Special Dental Care, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Carels CE; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Eur J Hum Genet ; 23(9): 1176-85, 2015 Sep.
Article en En | MEDLINE | ID: mdl-25424714
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Anomalías Dentarias / Anomalías Múltiples / Enfermedades del Desarrollo Óseo / Cromosomas Humanos Par 16 / Eliminación de Gen / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Anomalías Dentarias / Anomalías Múltiples / Enfermedades del Desarrollo Óseo / Cromosomas Humanos Par 16 / Eliminación de Gen / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido