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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart, Meriel; Williamson, Kathleen A; Rainger, Jacqueline K; Wheeler, Ann; Seawright, Anne; De Baere, Elfride; Verdin, Hannah; Bergendahl, L Therese; Quigley, Alan; Rainger, Joe; Dixit, Abhijit; Sarkar, Ajoy; López Laso, Eduardo; Sanchez-Carpintero, Rocio; Barrio, Jesus; Bitoun, Pierre; Prescott, Trine; Riise, Ruth; McKee, Shane; Cook, Jackie; McKie, Lisa; Ceulemans, Berten; Meire, Françoise; Temple, I Karen; Prieur, Fabienne; Williams, Jonathan; Clouston, Penny; Németh, Andrea H; Banka, Siddharth; Bengani, Hemant; Handley, Mark; Freyer, Elisabeth; Ross, Allyson; van Heyningen, Veronica; Marsh, Joseph A; Elmslie, Frances; FitzPatrick, David R.
Affiliation
  • McEntagart M; Medical Genetics, St George's University Hospitals NHS Foundation Trust, Cranmer Terrace, London SW17 0RE, UK.
  • Williamson KA; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
  • Rainger JK; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
  • Wheeler A; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
  • Seawright A; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
  • De Baere E; Center for Medical Genetics Ghent (CMGG), Ghent University Hospital, Medical Research Building (MRB), 1st Floor, Room 110.029, De Pintelaan 185, 9000 Ghent, Belgium.
  • Verdin H; Center for Medical Genetics Ghent (CMGG), Ghent University Hospital, Medical Research Building (MRB), 1st Floor, Room 110.029, De Pintelaan 185, 9000 Ghent, Belgium.
  • Bergendahl LT; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
  • Quigley A; Department of Radiology, Royal Hospital for Sick Children, Edinburgh EH9 1LF, UK.
  • Rainger J; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK; Roslin Institute, University of Edinburgh, Easter Bush, Midlothian EH25 9RG, UK.
  • Dixit A; Clinical Genetics, Nottingham City Hospital, Hucknall Road, Nottingham NG5 1PB, UK.
  • Sarkar A; Clinical Genetics, Nottingham City Hospital, Hucknall Road, Nottingham NG5 1PB, UK.
  • López Laso E; Pediatric Neurology Unit, Department of Pediatrics, Reina Sofia University Hospital, Av. Menéndez Pidal s/n, 14004 Córdoba, Spain.
  • Sanchez-Carpintero R; Paediatric Neurology Unit, Department of Paediatrics, Clinica Universidad de Navarra, 31008 Pamplona, Spain.
  • Barrio J; Department of Ophthalmology, Clinica Universidad de Navarra, 31008 Pamplona, Spain.
  • Bitoun P; Service de pédiatrie, CHU Paris Seine-Saint-Denis - Hôpital Jean Verdier Avenue du 14 juillet, 93140 Bondy, France.
  • Prescott T; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway.
  • Riise R; Department of Ophthalmology, Innland Hospital, 2418 Elverum, Norway.
  • McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast BT9 7AB, UK.
  • Cook J; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.
  • McKie L; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
  • Ceulemans B; Department of Neurology-Pediatric Neurology, University and University Hospital Antwerp, Antwerp 2650, Belgium.
  • Meire F; Department of Ophthalmology, Queen Fabiola Children's University Hospital, 1020 Brussels, Belgium.
  • Temple IK; Human Development and Health Academic Unit, University Hospital Southampton, Tremona Road, University of Southampton, Southampton SO16 6YD, UK.
  • Prieur F; Service Génétique, Plateau de biologie, CHU Saint Etienne, 42055 Saint Etienne cedex 2, France.
  • Williams J; Oxford University Hospitals NHS Trust, Oxford Medical Genetics Laboratories, The Churchill Hospital, Old Road, Headington, Oxford OX3 7LE, UK.
  • Clouston P; Oxford University Hospitals NHS Trust, Oxford Medical Genetics Laboratories, The Churchill Hospital, Old Road, Headington, Oxford OX3 7LE, UK.
  • Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 7LJ, UK.
  • Banka S; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Oxford Road, Manchester M13 9WL, UK.
  • Bengani H; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
  • Handley M; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
  • Freyer E; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
  • Ross A; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
  • van Heyningen V; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
  • Marsh JA; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
  • Elmslie F; Medical Genetics, St George's University Hospitals NHS Foundation Trust, Cranmer Terrace, London SW17 0RE, UK.
  • FitzPatrick DR; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK. Electronic address: david.fitzpatrick@ed.ac.uk.
Am J Hum Genet ; 98(5): 981-992, 2016 05 05.
Article in En | MEDLINE | ID: mdl-27108798
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aniridia / Cerebellar Ataxia / Inositol 1,4,5-Trisphosphate Receptors / Genes, Dominant / Intellectual Disability / Mutation Limits: Adolescent / Adult / Animals / Child / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2016 Document type: Article Affiliation country: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aniridia / Cerebellar Ataxia / Inositol 1,4,5-Trisphosphate Receptors / Genes, Dominant / Intellectual Disability / Mutation Limits: Adolescent / Adult / Animals / Child / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2016 Document type: Article Affiliation country: United kingdom