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

dc.contributor.authorFryer, Alan
dc.contributor.authorFirth, Helen V.
dc.contributor.authorKingston, Helen
dc.contributor.authorWee, Jamie S.
dc.contributor.authorHurst, Jane A.
dc.contributor.authorClayton-Smith, Jill
dc.contributor.authorTolmie, John
dc.contributor.authorVogt, Julie
dc.contributor.authorTatton-Brown, Katrina
dc.contributor.authorChandler, Kate
dc.contributor.authorPrescott, Katrina
dc.contributor.authorWilson, Louise
dc.contributor.authorBehnam, Mahdiyeh
dc.contributor.authorMcEntagart, Meriel
dc.contributor.authorDavidson, Rosemarie
dc.contributor.authorLynch, Sally-Ann
dc.contributor.authorSisodiya, Sanjay
dc.contributor.authorMehta, Sarju G.
dc.contributor.authorMcKee, Shane A.
dc.contributor.authorMohammed, Shehla
dc.contributor.authorHolden, Simon
dc.contributor.authorPark, Soo-Mi
dc.contributor.authorHolder, Susan E.
dc.contributor.authorHarrison, Victoria
dc.contributor.authorMcConnell, Vivienne
dc.contributor.authorLam, Wayne K.
dc.contributor.authorGreen, Andrew J.
dc.contributor.authorDonnai, Dian
dc.contributor.authorBitner-Glindzicz, Maria
dc.contributor.authorDonnelly, Deirdre E.
dc.contributor.authorNellaker, Christoffer
dc.contributor.authorTaylor, Martin S.
dc.contributor.authorFitzPatrick, David R.
dc.contributor.authorAvci, Sahin
dc.contributor.authorKayserili, Hulya
dc.contributor.authorAnsari, Morad
dc.contributor.authorPoke, Gemma
dc.contributor.authorFerry, Quentin
dc.contributor.authorWilliamson, Kathleen
dc.contributor.authorAldridge, Roland
dc.contributor.authorMeynert, Alison M.
dc.contributor.authorBengani, Hemant
dc.contributor.authorChan, Cheng Yee
dc.contributor.authorHennekam, Raoul C. M.
dc.contributor.authorLampe, Anne K.
dc.contributor.authorRedeker, Egbert
dc.contributor.authorHomfray, Tessa
dc.contributor.authorRoss, Alison
dc.contributor.authorSmeland, Marie Falkenberg
dc.contributor.authorMansour, Sahar
dc.contributor.authorParker, Michael J.
dc.contributor.authorCook, Jacqueline A.
dc.contributor.authorSplitt, Miranda
dc.contributor.authorFisher, Richard B.
dc.contributor.authorMagee, Alex C.
dc.contributor.authorWilkie, Andrew
dc.contributor.authorBarnicoat, Angela
dc.contributor.authorBrady, Angela F.
dc.contributor.authorCooper, Nicola S.
dc.contributor.authorMercer, Catherine
dc.contributor.authorDeshpande, Charu
dc.contributor.authorBennett, Christopher P.
dc.contributor.authorPilz, Daniela T.
dc.contributor.authorRuddy, Deborah
dc.contributor.authorCilliers, Deirdre
dc.contributor.authorJohnson, Diana S.
dc.contributor.authorJosifova, Dragana
dc.contributor.authorRosser, Elisabeth
dc.contributor.authorThompson, Elizabeth M.
dc.contributor.authorWakeling, Emma
dc.contributor.authorKinning, Esther
dc.contributor.authorStewart, Fiona
dc.contributor.authorFlinter, Frances
dc.contributor.authorGirisha, Katta M.
dc.contributor.authorCox, Helen
dc.date.accessioned2021-03-06T07:17:54Z
dc.date.available2021-03-06T07:17:54Z
dc.date.issued2014
dc.identifier.citationAnsari M., Poke G., Ferry Q., Williamson K., Aldridge R., Meynert A. M. , Bengani H., Chan C. Y. , Kayserili H., Avci S., et al., "Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism", JOURNAL OF MEDICAL GENETICS, cilt.51, ss.659-668, 2014
dc.identifier.issn0022-2593
dc.identifier.otherav_dc29a2cb-cd0e-454c-9af3-98c06c27c014
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/145106
dc.identifier.urihttps://doi.org/10.1136/jmedgenet-2014-102573
dc.description.abstractBackground Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significant proportion. Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS.
dc.language.isoeng
dc.subjectDahili Tıp Bilimleri
dc.subjectTemel Bilimler
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.titleGenetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume51
dc.identifier.issue10
dc.identifier.startpage659
dc.identifier.endpage668
dc.contributor.firstauthorID217748


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