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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Jansen, Sandra; Geuer, Sinje; Pfundt, Rolph; Brough, Rachel; Ghongane, Priyanka; Herkert, Johanna C; Marco, Elysa J; Willemsen, Marjolein H; Kleefstra, Tjitske; Hannibal, Mark; Shieh, Joseph T; Lynch, Sally Ann; Flinter, Frances; FitzPatrick, David R; Gardham, Alice; Bernhard, Birgitta; Ragge, Nicola; Newbury-Ecob, Ruth; Bernier, Raphael; Kvarnung, Malin; Magnusson, E A Helena; Wessels, Marja W; van Slegtenhorst, Marjon A; Monaghan, Kristin G; de Vries, Petra; Veltman, Joris A; Lord, Christopher J; Vissers, Lisenka E L M; de Vries, Bert B A.
Afiliação
  • Jansen S; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Geuer S; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Pfundt R; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Brough R; Cancer Research UK Gene Function Laboratory and Breast Cancer Now Research Centre, Institute of Cancer Research, London SW3 6JB, UK.
  • Ghongane P; Cancer Research UK Gene Function Laboratory and Breast Cancer Now Research Centre, Institute of Cancer Research, London SW3 6JB, UK.
  • Herkert JC; Department of Genetics, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
  • Marco EJ; Departments of Neurology, Pediatrics, and Psychiatry, University of California, San Francisco, 675 Nelson Rising Lane, Suite 405, San Francisco, CA 94143, USA.
  • Willemsen MH; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Kleefstra T; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Hannibal M; Division of Pediatric Genetics, Metabolism & Genomic Medicine, University of Michigan Medical School, D5257 Medical Professional Building, 1500 East Medical Center Drive, Ann Arbor, MI 48109-5718, USA.
  • Shieh JT; Division of Medical Genetics, Department of Pediatrics, UCSF Benioff Children's Hospital, Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143-0793, USA.
  • Lynch SA; Clinical Genetics, Children's University Hospital, Temple Street, Dublin 1, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, Dublin 1, Ireland.
  • Flinter F; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, Great Maze Pond, London SE1 9RT, UK.
  • FitzPatrick DR; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh EH4 2XU, UK.
  • Gardham A; North West Thames Regional Genetic Service (Kennedy Galton Centre), North West London Hospitals, Watford Road, London HA1 3UJ, UK.
  • Bernhard B; North West Thames Regional Genetic Service (Kennedy Galton Centre), North West London Hospitals, Watford Road, London HA1 3UJ, UK.
  • Ragge N; Faculty of Health and Life Sciences, Oxford Brookes University, Gipsy Lane, Oxford OX3 0BP, UK; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK.
  • Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, Southwell Street, Bristol BS2 8EG, UK.
  • Bernier R; Center on Human Development and Disability, University of Washington, PO Box 357920, Seattle, WA 98195-7920, USA.
  • Kvarnung M; Department of Clinical Genetics, Karolinska University Hospital Solna, Karolinska Institutet, 171 77 Stockholm, Sweden.
  • Magnusson EA; Department of Medicine and Neurology, Habilitation Organization, Region Skåne, 291 89 Kristianstad, Sweden.
  • Wessels MW; Department of Clinical Genetics, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands.
  • van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands.
  • Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
  • de Vries P; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Veltman JA; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER Maastricht, the Netherlands.
  • Lord CJ; Cancer Research UK Gene Function Laboratory and Breast Cancer Now Research Centre, Institute of Cancer Research, London SW3 6JB, UK.
  • Vissers LE; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • de Vries BB; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address: bert.devries@radboudumc.nl.
Am J Hum Genet ; 100(4): 650-658, 2017 Apr 06.
Article em En | MEDLINE | ID: mdl-28343630
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Éxons / Proteína Fosfatase 2C / Deficiência Intelectual / Mutação Limite: Adolescent / Adult / Child / Child, preschool / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Éxons / Proteína Fosfatase 2C / Deficiência Intelectual / Mutação Limite: Adolescent / Adult / Child / Child, preschool / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda