文献

J-GLOBAL ID：201402243974797846   整理番号：14A1366739

コルネリアドランゲ症候群(CdLS)における遺伝的異質性,モザイク現象が観察および予測された程度におけるCdLS様表現型

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

著者 (40件)： ANSARI Morad (Univ. of Edinburgh, Edinburgh, GBR) ,  POKE Gemma (Univ. of Edinburgh, Edinburgh, GBR) ,  FERRY Quentin (Univ. of Oxford, Oxford, GBR) ,  WILLIAMSON Kathleen (Univ. of Edinburgh, Edinburgh, GBR) ,  ALDRIDGE Roland (Univ. of Edinburgh, Edinburgh, GBR) ,  MEYNERT Alison M (Univ. of Edinburgh, Edinburgh, GBR) ,  BENGANI Hemant (Univ. of Edinburgh, Edinburgh, GBR) ,  CHAN Cheng Yee (Univ. of Edinburgh, Edinburgh, GBR) ,  KAYSERILI Huelya (Istanbul Univ., Istanbul, TUR) ,  AVCI Sahin (Istanbul Univ., Istanbul, TUR) ,  HENNEKAM Raoul C M (Univ. of Amsterdam, Amsterdam, NLD) ,  LAMPE Anne K (Western General Hospital, Edinburgh, GBR) ,  REDEKER Egbert (Univ. of Amsterdam, Amsterdam, NLD) ,  HOMFRAY Tessa (St George’s Univ. of London, London, GBR) ,  ROSS Alison (Clinical Genetics Centre, Aberdeen, GBR) ,  SMELAND Marie Falkenberg (Univ. Hospital of Northern Norway, Tromso, NOR) ,  MANSOUR Sahar (St George’s Univ. of London, London, GBR) ,  PARKER Michael J (NHS Foundation Trust, Sheffield, GBR) ,  COOK Jacqueline A (NHS Foundation Trust, Sheffield, GBR) ,  SPLITT Miranda (Newcastle upon Tyne Hospitals, Newcastle upon Tyne, GBR) ,  FISHER Richard B (Newcastle upon Tyne Hospitals, Newcastle upon Tyne, GBR) ,  FRYER Alan (Alder Hay Children’s Hospital, Liverpool, GBR) ,  MAGEE Alex C (Northern Ireland Regional Genetics Serv. (NIRGS), Belfast, GBR) ,  WILKIE Andrew (Univ. of Oxford, Oxford, GBR) ,  BARNICOAT Angela (Great Ormond Street Hospital, London, GBR) ,  BRADY Angela F (North West London Hospitals NHS Trust, Harrow, GBR) ,  COOPER Nicola S (Birmingham Women’s Hospital, West Midlands, GBR) ,  MERCER Catherine (Princess Anne Hospital, Southampton, GBR) ,  DESHPANDE Charu (Guy’s and St Thomas’ NHS Foundation Trust, London, GBR) ,  BENNETT Christopher P (Yorkshire Regional Genetics Serv., Leeds, GBR) ,  PILZ Daniela T (Univ. Hospital of Wales, Cardiff, GBR) ,  RUDDY Deborah (Guy’s and St Thomas’ NHS Foundation Trust, London, GBR) ,  CILLIERS Deirdre (Churchill Hospital Old Road, Oxford, GBR) ,  JOHNSON Diana S (NHS Foundation Trust, Sheffield, GBR) ,  JOSIFOVA Dragana (Guy’s and St Thomas’ NHS Foundation Trust, London, GBR) ,  ROSSER Elisabeth (Great Ormond Street Hospital, London, GBR) ,  THOMPSON Elizabeth M ,  WAKELING Emma (North West London Hospitals NHS Trust, Harrow, GBR) ,  KINNING Esther ,  STEWART Fiona (Northern Ireland Regional Genetics Serv. (NIRGS), Belfast, GBR)
資料名： Journal of Medical Genetics  (Journal of Medical Genetics)
巻： 51  号： 10  ページ： 659-668  発行年： 2014年10月 
JST資料番号： T0190A  ISSN： 0022-2593  資料種別： 逐次刊行物 (A)
発行国： イギリス (GBR)  言語： 英語 (EN)

タイトルに関連する用語 (7件)： 症候群 ,  遺伝的異質性 ,  モザイク現象 ,  観察 ,  予測 ,  程度 ,  表現型