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

Journal of Medical Genetics

Volumn 51, Issue 10, 2014, Pages 659-668

  Ansari, Morad ^a   Poke, Gemma ^a   Ferry, Quentin ^b,c   Williamson, Kathleen ^a   Aldridge, Roland ^a   Meynert, Alison M ^a   Bengani, Hemant ^a   Chan, Cheng Yee ^a   Kayserili, Hülya ^d   Avci, Şahin ^d   Hennekam, Raoul C M ^e   Lampe, Anne K ^f   Redeker, Egbert ^e   Homfray, Tessa ^g   Ross, Alison ^h   Smeland, Marie Falkenberg ⁱ   Mansour, Sahar ^g   Parker, Michael J ^j   Cook, Jacqueline A ^j   Splitt, Miranda ^k   Fisher, Richard B ^k   Fryer, Alan ^l   Magee, Alex C ^m   Wilkie, Andrew ⁿ   Barnicoat, Angela ^o   Brady, Angela F ^p   Cooper, Nicola S ^q   Mercer, Catherine ^r   Deshpande, Charu ^s   Bennett, Christopher P ^t   Pilz, Daniela T ^u   Ruddy, Deborah ^s   Cilliers, Deirdre ^v   Johnson, Diana S ^j   Josifova, Dragana ^s   Rosser, Elisabeth ^o   Thompson, Elizabeth M ^w,x   Wakeling, Emma ^p   Kinning, Esther ^y   Stewart, Fiona ^m   Flinter, Frances ^s   Girisha, Katta M ^z   Cox, Helen ^q   Firth, Helen V ^aa   Kingston, Helen ^ab   Wee, Jamie S ^ac   Hurst, Jane A ^o   Clayton Smith, Jill ^ab   Tolmie, John ^y   Vogt, Julie ^q   Tatton Brown, Katrina ^g   Chandler, Kate ^ab   Prescott, Katrina ^t   Wilson, Louise ^o   Behnam, Mahdiyeh ^ad   McEntagart, Meriel ^g   Davidson, Rosemarie ^y   Lynch, Sally Ann ^ae   Sisodiya, Sanjay ^af   Mehta, Sarju G ^aa   McKee, Shane A ^m   Mohammed, Shehla ^s   Holden, Simon ^aa   Park, Soo Mi ^aa   Holder, Susan E ^p   Harrison, Victoria ^r   McConnell, Vivienne ^m   Lam, Wayne K ^f   Green, Andrew J ^ae,ag   Donnai, Dian ^ab   Bitner Glindzicz, Maria ^o,ah   Donnelly, Deirdre E ^m   Nellåker, Christoffer ^c   Taylor, Martin S ^a   FitzPatrick, David R ^a   more..

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d ISTANBUL UNIVERSITY   (Turkey)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

^f WESTERN GENERAL HOSPITAL   (United Kingdom)

^g ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^h Clinical Genetics Centre   (United Kingdom)

ⁱ UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^j SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^k NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^l ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^m BELFAST CITY HOSPITAL   (United Kingdom)

ⁿ UNIVERSITY OF OXFORD   (United Kingdom)

^o GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^p EALING HOSPITAL NHS TRUST   (United Kingdom)

^q BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^r PRINCESS ANNE HOSPITAL   (United Kingdom)

^s GUY S HOSPITAL   (United Kingdom)

^t Yorkshire Regional Genetics Service   (United Kingdom)

^u UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^v CHURCHILL HOSPITAL   (United Kingdom)

^w WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^x UNIVERSITY OF ADELAIDE   (Australia)

^y ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^z KASTURBA MEDICAL COLLEGE   (India)

^aa ADDENBROOKE S HOSPITAL   (United Kingdom)

^ab UNIVERSITY OF MANCHESTER   (United Kingdom)

^ac KINGSTON HOSPITAL   (United Kingdom)

^ad ISFAHAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^ae OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^af UNIVERSITY COLLEGE LONDON   (United Kingdom)

^ag UNIVERSITY COLLEGE DUBLIN   (Ireland)

^ah UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE DEACETYLASE 8;

ANKRD11 GENE; ARTICLE; BIRTH WEIGHT; CHROMOSOME 12Q; CHROMOSOME 1P; COMPARATIVE GENOMIC HYBRIDIZATION; DE LANGE SYNDROME; EXOME; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HISTONE DEACETYLASE 8 GENE; HUMAN; INTRON; KBG SYNDROME; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MOSAICISM; NIPBL GENE; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PHENOTYPE; RAD21 GENE; SISTER CHROMATID; SMC1A GENE; SMC3 GENE; FACE; GENETIC ASSOCIATION; GENETICS; MUTATION; PATHOLOGY;

DE LANGE SYNDROME; FACE; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; HUMANS; MOSAICISM; MUTATION; PHENOTYPE;

EID: 84911409557     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102573     Document Type: Article

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