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The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Schepers, Dorien; Doyle, Alexander J; Oswald, Gretchen; Sparks, Elizabeth; Myers, Loretha; Willems, Patrick J; Mansour, Sahar; Simpson, Michael A; Frysira, Helena; Maat-Kievit, Anneke; Van Minkelen, Rick; Hoogeboom, Jeanette M; Mortier, Geert R; Titheradge, Hannah; Brueton, Louise; Starr, Lois; Stark, Zornitza; Ockeloen, Charlotte; Lourenco, Charles Marques; Blair, Ed; Hobson, Emma; Hurst, Jane; Maystadt, Isabelle; Destrée, Anne; Girisha, Katta M; Miller, Michelle; Dietz, Harry C; Loeys, Bart; Van Laer, Lut.
Afiliación
  • Schepers D; Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Doyle AJ; 1] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA [2] Howard Hughes Medical Institute, Baltimore, MD, USA.
  • Oswald G; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Sparks E; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Myers L; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Willems PJ; GENDIA, GENetic DIAgnostic Network, Antwerp, Belgium.
  • Mansour S; SW Thames Regional Genetics Service, St George's, University of London, London, UK.
  • Simpson MA; Division of Genetics and Molecular Medicine, Department of Medical and Molecular Genetics, King's College London School of Medicine, London, UK.
  • Frysira H; Department of Medical Genetics, National and Kapodistrian University of Athens Medical School, Athens, Greece.
  • Maat-Kievit A; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
  • Van Minkelen R; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
  • Hoogeboom JM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
  • Mortier GR; Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Titheradge H; Department of Clinical Genetics, Birmingham Women's Hospital, Birmingham, UK.
  • Brueton L; Department of Clinical Genetics, Birmingham Women's Hospital, Birmingham, UK.
  • Starr L; Clinical Genetics, Munroe-Meyer Institute for Genetics and Rehabilitation, Nebraska Medical Center, Omaha, NE, USA.
  • Stark Z; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Ockeloen C; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Lourenco CM; Department of Medical Genetics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil.
  • Blair E; Department of Clinical Genetics, Churchill Hospital, Oxford, UK.
  • Hobson E; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK.
  • Hurst J; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
  • Maystadt I; Center for Human Genetics, Institute for Pathology and Genetics (IPG), Gosselies, Belgium.
  • Destrée A; Center for Human Genetics, Institute for Pathology and Genetics (IPG), Gosselies, Belgium.
  • Girisha KM; Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.
  • Miller M; Department of Cardiology, All Childrens Hospital, St. Petersburg, FL, USA.
  • Dietz HC; 1] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA [2] Howard Hughes Medical Institute, Baltimore, MD, USA.
  • Loeys B; Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Van Laer L; Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Eur J Hum Genet ; 23(2): 224-8, 2015 Feb.
Article en En | MEDLINE | ID: mdl-24736733
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Proto-Oncogénicas / Mutación Missense / Craneosinostosis / Proteínas de Unión al ADN / Aracnodactilia / Síndrome de Marfan Tipo de estudio: Diagnostic_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: Bélgica
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Proto-Oncogénicas / Mutación Missense / Craneosinostosis / Proteínas de Unión al ADN / Aracnodactilia / Síndrome de Marfan Tipo de estudio: Diagnostic_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: Bélgica