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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
Ansari, Morad; Rainger, Jacqueline; Hanson, Isabel M; Williamson, Kathleen A; Sharkey, Freddie; Harewood, Louise; Sandilands, Angela; Clayton-Smith, Jill; Dollfus, Helene; Bitoun, Pierre; Meire, Francoise; Fantes, Judy; Franco, Brunella; Lorenz, Birgit; Taylor, David S; Stewart, Fiona; Willoughby, Colin E; McEntagart, Meriel; Khaw, Peng Tee; Clericuzio, Carol; Van Maldergem, Lionel; Williams, Denise; Newbury-Ecob, Ruth; Traboulsi, Elias I; Silva, Eduardo D; Madlom, Mukhlis M; Goudie, David R; Fleck, Brian W; Wieczorek, Dagmar; Kohlhase, Juergen; McTrusty, Alice D; Gardiner, Carol; Yale, Christopher; Moore, Anthony T; Russell-Eggitt, Isabelle; Islam, Lily; Lees, Melissa; Beales, Philip L; Tuft, Stephen J; Solano, Juan B; Splitt, Miranda; Hertz, Jens Michael; Prescott, Trine E; Shears, Deborah J; Nischal, Ken K; Doco-Fenzy, Martine; Prieur, Fabienne; Temple, I Karen; Lachlan, Katherine L; Damante, Giuseppe.
Afiliação
  • Ansari M; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.
  • Rainger J; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.
  • Hanson IM; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.
  • Williamson KA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.
  • Sharkey F; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.
  • Harewood L; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.
  • Sandilands A; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.
  • Clayton-Smith J; Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, United Kingdom.
  • Dollfus H; Service de Génétique Médicale, Hôpital de Haute-Pierre, Strasbourg, France.
  • Bitoun P; Medical Genetics Departments, University Hospital Jean Verdier, Bondy, France.
  • Meire F; Department of ophthalmopediatrics, Hôpital Universitaire des Enfants Reine Fabiola, Bruxelles, Belgium.
  • Fantes J; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.
  • Franco B; Medical Genetics, Department of Medical Translational Sciences, Federico II University, Naples, Italy.
  • Lorenz B; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
  • Taylor DS; Department of Ophthalmology, Justus-Liebig-University Giessen, Universitaetsklinikum Giessen and Marburg UKGM, Giessen, Germany.
  • Stewart F; Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom.
  • Willoughby CE; Northern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, United Kingdom.
  • McEntagart M; Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, United Kingdom.
  • Khaw PT; Medical Genetics Unit, St George's University of London, London, United Kingdom.
  • Clericuzio C; Moorfields Eye Hospital, London, UK and University College London, Institute of Ophthalmology, London, United Kingdom.
  • Van Maldergem L; Department of Pediatric Genetics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, United States of America.
  • Williams D; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.
  • Newbury-Ecob R; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, United Kingdom.
  • Traboulsi EI; Department of Clinical Genetics, University Hospitals, Bristol, United Kingdom.
  • Silva ED; Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, United States of America.
  • Madlom MM; Department Ophthalmology, University Hospital of Coimbra, Coimbra, Portugal.
  • Goudie DR; Children's Hospital, Doncaster Royal Infirmary, Doncaster, United Kingdom.
  • Fleck BW; Human Genetics Unit, University of Dundee College of Medicine, Dentistry and Nursing, Ninewells Hospital, Dundee, United Kingdom.
  • Wieczorek D; Department of Ophthalmology, Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh, United Kingdom.
  • Kohlhase J; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • McTrusty AD; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany.
  • Gardiner C; Center for Human Genetics, Freiburg, Germany.
  • Yale C; Department of Life Sciences, Glasgow Caledonian University, Glasgow, United Kingdom.
  • Moore AT; Clinical Genetics, Southern General Hospital, Glasgow, United Kingdom.
  • Russell-Eggitt I; Department of Paediatrics and Child Health, Ipswich Hospital, Ipswich, United Kingdom.
  • Islam L; Moorfields Eye Hospital, London, UK and University College London, Institute of Ophthalmology, London, United Kingdom.
  • Lees M; Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom.
  • Beales PL; Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom.
  • Tuft SJ; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, London, United Kingdom.
  • Solano JB; Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom.
  • Splitt M; Moorfields Eye Hospital, London, UK and University College London, Institute of Ophthalmology, London, United Kingdom.
  • Hertz JM; Ruber International Hospital, Medical Genetics Unit, Mirasierra, Madrid, Spain.
  • Prescott TE; Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom.
  • Shears DJ; Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.
  • Nischal KK; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Doco-Fenzy M; Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.
  • Prieur F; UPMC Eye Center, Children's Hospital of Pittsburgh of UPMC, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
  • Temple IK; Service de génétique, HMB CHU Reims, SFR Cap Sante. EA 3801, France.
  • Lachlan KL; CHU de Saint Etienne, Service de génétique médicale, Saint-Etienne, France.
  • Damante G; Academic Unit of Genetic Medicine, Division of Human Genetics, University of Southampton, Southampton, United Kingdom.
PLoS One ; 11(4): e0153757, 2016.
Article em En | MEDLINE | ID: mdl-27124303
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aniridia / Ataxia Cerebelar / Fator de Transcrição PAX6 / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aniridia / Ataxia Cerebelar / Fator de Transcrição PAX6 / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido