{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:16:43Z","timestamp":1790457403882,"version":"4.1.0"},"reference-count":17,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2014,5,1]],"date-time":"2014-05-01T00:00:00Z","timestamp":1398902400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,5,1]],"date-time":"2014-05-01T00:00:00Z","timestamp":1398902400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2014,5]]},"DOI":"10.1016\/j.ejmg.2014.03.011","type":"journal-article","created":{"date-parts":[[2014,4,2]],"date-time":"2014-04-02T12:15:54Z","timestamp":1396440954000},"page":"293-297","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":33,"title":["Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood"],"prefix":"10.1016","volume":"57","author":[{"given":"Mari\u00eblle","family":"Alders","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia M.","family":"Maas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dani\u00ebl J.M.","family":"Kadouch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"van der Lip","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4549-6655","authenticated-orcid":false,"given":"Jet","family":"Bliek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal M.A.M.","family":"van der Horst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7137-119X","authenticated-orcid":false,"given":"Marcel M.A.M.","family":"Mannens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.ejmg.2014.03.011_bib1","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/ejhg.2008.197","article-title":"Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis","volume":"17","author":"Alders","year":"2009","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"10.1016\/j.ejmg.2014.03.011_bib2","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1093\/hmg\/10.5.467","article-title":"Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS","volume":"10","author":"Bliek","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ejmg.2014.03.011_bib17","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/S0022-3476(98)70008-3","article-title":"Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry","volume":"132","author":"DeBaun","year":"1998","journal-title":"J Pediatr"},{"issue":"3","key":"10.1016\/j.ejmg.2014.03.011_bib3","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1007\/s10024-005-1154-9","article-title":"Beckwith\u2013Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives","volume":"8","author":"Cohen","year":"2005","journal-title":"Pediatr Dev Pathol"},{"issue":"2","key":"10.1016\/j.ejmg.2014.03.011_bib4","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1111\/j.1399-0004.1994.tb04219.x","article-title":"Clinical features and natural history of Beckwith\u2013Wiedemann syndrome: presentation of 74 new cases","volume":"46","author":"Elliott","year":"1994","journal-title":"Clin. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2014.03.011_bib5","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1007\/BF00441965","article-title":"Wiedemann\u2013Beckwith syndrome","volume":"147","author":"Engstrom","year":"1988","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.ejmg.2014.03.011_bib6","doi-asserted-by":"crossref","first-page":"66","DOI":"10.3389\/fendo.2011.00066","article-title":"Paternal uniparental isodisomy of chromosome 11p15.5 within the pancreas causes isolated hyperinsulinemic hypoglycaemia","volume":"2","author":"Flanagan","year":"2011","journal-title":"Front Endocrin"},{"issue":"4","key":"10.1016\/j.ejmg.2014.03.011_bib7","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1136\/jmg.2006.046854","article-title":"Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith\u2013Wiedemann syndrome","volume":"44","author":"Grati","year":"2007","journal-title":"J\u00a0Med Genet"},{"issue":"2","key":"10.1016\/j.ejmg.2014.03.011_bib8","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/(SICI)1096-8628(20000515)92:2<111::AID-AJMG6>3.0.CO;2-L","article-title":"Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann\u2013Beckwith syndrome","volume":"92","author":"Itoh","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejmg.2014.03.011_bib9","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/j.ijom.2011.10.021","article-title":"Surgical treatment of macroglossia in patients with Beckwith\u2013Wiedemann syndrome: a 20-year experience and review of the literature","volume":"41","author":"Kadouch","year":"2012","journal-title":"Int J Oral Maxillofac Surg"},{"key":"10.1016\/j.ejmg.2014.03.011_bib10","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1136\/jmg.36.7.518","article-title":"Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith\u2013Wiedemann syndrome (BWS) provides a novel genotype\u2013phenotype correlation","volume":"36","author":"Lam","year":"1999","journal-title":"J\u00a0Med Genet"},{"issue":"9","key":"10.1016\/j.ejmg.2014.03.011_bib11","doi-asserted-by":"crossref","first-page":"5203","DOI":"10.1073\/pnas.96.9.5203","article-title":"Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith\u2013Wiedemann syndrome and is independent of insulin-like growth factor II imprinting","volume":"96","author":"Lee","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"issue":"4","key":"10.1016\/j.ejmg.2014.03.011_bib12","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1111\/j.1399-0004.1996.tb02644.x","article-title":"Clinical features in the Wiedemann\u2013Beckwith syndrome","volume":"50","author":"Martinez","year":"1996","journal-title":"Clin Genet"},{"issue":"2","key":"10.1016\/j.ejmg.2014.03.011_bib13","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/BF00282078","article-title":"Wiedemann\u2013Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature","volume":"74","author":"Pettenati","year":"1986","journal-title":"Hum Genet"},{"issue":"1","key":"10.1016\/j.ejmg.2014.03.011_bib14","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/ajmg.a.30729","article-title":"Tumor risk in Beckwith\u2013Wiedemann syndrome: a review and meta-analysis","volume":"136","author":"Rump","year":"2005","journal-title":"Am J Med Genet A"},{"issue":"10","key":"10.1016\/j.ejmg.2014.03.011_bib15","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1136\/jmg.31.10.749","article-title":"Mosaic uniparental disomy in Beckwith\u2013Wiedemann syndrome","volume":"31","author":"Slatter","year":"1994","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ejmg.2014.03.011_bib16","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1002\/ajmg.c.30058","article-title":"Beckwith\u2013Wiedemann syndrome","volume":"137","author":"Weksberg","year":"2005","journal-title":"Am J Med Genet C Semin Med Genet"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214000640?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214000640?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:41:14Z","timestamp":1761709274000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721214000640"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["S1769721214000640"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.03.011","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2014,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.03.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}