Your browser doesn't support javascript.
loading
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Bengani, Hemant; Handley, Mark; Alvi, Mohsan; Ibitoye, Rita; Lees, Melissa; Lynch, Sally Ann; Lam, Wayne; Fannemel, Madeleine; Nordgren, Ann; Malmgren, H; Kvarnung, M; Mehta, Sarju; McKee, Shane; Whiteford, Margo; Stewart, Fiona; Connell, Fiona; Clayton-Smith, Jill; Mansour, Sahar; Mohammed, Shehla; Fryer, Alan; Morton, Jenny; Grozeva, Detelina; Asam, Tara; Moore, David; Sifrim, Alejandro; McRae, Jeremy; Hurles, Matthew E; Firth, Helen V; Raymond, F Lucy; Kini, Usha; Nellåker, Christoffer; FitzPatrick, David R.
Affiliation
  • Bengani H; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK.
  • Handley M; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK.
  • Alvi M; Avdeling for Medisinsk Genetikk, Oslo Universitetssykehus, Oslo, Norway.
  • Ibitoye R; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Lees M; North East Regional Genetics Service, Great Ormond Street Hospital, London, UK.
  • Lynch SA; National Centre for Medical Genetics, Our Lady's Children's Hospital, Dublin, Ireland.
  • Lam W; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.
  • Fannemel M; Avdeling for Medisinsk Genetikk, Oslo Universitetssykehus, Oslo, Norway.
  • Nordgren A; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Malmgren H; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Kvarnung M; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Mehta S; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation, Cambridge, UK.
  • McKee S; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK.
  • Whiteford M; West of Scotland Genetic Services, Queen Elizabeth University Hospital, Glasgow, UK.
  • Stewart F; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK.
  • Connell F; South East Thames Regional Genetics Service, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Clayton-Smith J; Genetic Medicine, North West Regional Genetics Service, Manchester, UK.
  • Mansour S; Department of Clinical Genetics, St Georges Hospital, Tooting, UK.
  • Mohammed S; South East Thames Regional Genetics Service, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Fryer A; Cheshire &Merseyside Regional Genetics Service, Liverpool Women's NHS foundation Trust, Liverpool, UK.
  • Morton J; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
  • Grozeva D; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Asam T; South-East Scotland Regional Genetics Laboratories, Western General Hospital, Edinburgh, UK.
  • Moore D; South-East Scotland Regional Genetics Laboratories, Western General Hospital, Edinburgh, UK.
  • Sifrim A; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
  • McRae J; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
  • Hurles ME; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
  • Firth HV; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation, Cambridge, UK.
  • Raymond FL; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Kini U; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Nellåker C; Spires Cleft Centre, John Radcliffe Hospital, Oxford, UK.
  • Ddd Study; Nuffield Department of Obstetrics &Gynaecology, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford, UK.
  • FitzPatrick DR; Department of Engineering Science, University of Oxford, Institute of Biomedical Engineering, Oxford, UK.
Genet Med ; 19(8): 900-908, 2017 08.
Article in En | MEDLINE | ID: mdl-28151491
Subject(s)
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Mutation, Missense / Matrix Attachment Region Binding Proteins / Loss of Function Mutation / Intellectual Disability Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2017 Type: Article Affiliation country: United kingdom
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Mutation, Missense / Matrix Attachment Region Binding Proteins / Loss of Function Mutation / Intellectual Disability Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2017 Type: Article Affiliation country: United kingdom