{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T23:16:02Z","timestamp":1791414962113,"version":"4.3.3"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2011,8,24]],"date-time":"2011-08-24T00:00:00Z","timestamp":1314144000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2012,2]]},"DOI":"10.1038\/ejhg.2011.166","type":"journal-article","created":{"date-parts":[[2011,8,24]],"date-time":"2011-08-24T10:53:16Z","timestamp":1314183196000},"page":"240-243","source":"Crossref","is-referenced-by-count":63,"title":["Beckwith\u2013Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2\/H19-imprinting control region, ICR1"],"prefix":"10.1038","volume":"20","author":[{"given":"Rebecca L","family":"Poole","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald J","family":"Leith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise E","family":"Docherty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mansur E","family":"Shmela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Gicquel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miranda","family":"Splitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I Karen","family":"Temple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah J G","family":"Mackay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,8,24]]},"reference":[{"key":"BFejhg2011166_CR1","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1038\/ejhg.2009.106","volume":"18","author":"R Weksberg","year":"2009","unstructured":"Weksberg R, Shuman C, Beckwith JB : Beckwith-Wiedemann syndrome. Eur J Hum Genet 2009; 18: 8\u201314.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2011166_CR2","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.mrfmmm.2008.08.008","volume":"647","author":"FY Ideraabdullah","year":"2008","unstructured":"Ideraabdullah FY, Vigneau S, Bartolomei MS : Genomic imprinting mechanisms in mammals. Mut Res 2008; 647: 77\u201385.","journal-title":"Mut Res"},{"key":"BFejhg2011166_CR3","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1038\/ng1410","volume":"36","author":"A Sparago","year":"2004","unstructured":"Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Riccio A : Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet 2004; 36: 958\u2013960.","journal-title":"Nat Genet"},{"key":"BFejhg2011166_CR4","doi-asserted-by":"publisher","first-page":"4085","DOI":"10.1073\/pnas.0500037102","volume":"102","author":"D Prawitt","year":"2005","unstructured":"Prawitt D, Enklaar T, Gartner-Rupprecht B et al: Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. Proc Natl Acad Sci USA 2005; 102: 4085\u20134090.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg2011166_CR5","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1093\/hmg\/ddn031","volume":"17","author":"F Cerrato","year":"2008","unstructured":"Cerrato F, Sparago A, Verde G et al: Different mechanisms cause imprinting defects at the IGF2\/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. Hum Mol Genet 2008; 17: 1427\u20131435.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2011166_CR6","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1093\/hmg\/ddp549","volume":"19","author":"J Demars","year":"2010","unstructured":"Demars J, Shmela ME, Rossignol S et al: Analysis of the IGF2\/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet 2010; 19: 803\u2013814.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2011166_CR7","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1038\/ng.187","volume":"40","author":"DJG Mackay","year":"2008","unstructured":"Mackay DJG, Callaway JLA, Marks SM et al: Hypomethylation of multiple imprinted loci in patients with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 2008; 40: 949\u2013951.","journal-title":"Nat Genet"},{"key":"BFejhg2011166_CR8","doi-asserted-by":"publisher","first-page":"1990","DOI":"10.1002\/ajmg.a.33530","volume":"152A","author":"RL Poole","year":"2010","unstructured":"Poole RL, Baple E, Crolla JA, Temple IK, Mackay DJG : Investigation of a routine cohort referred for molecular cytogenetic analysis using aCGH reveals previously unsuspected anomalies of imprinting. Am J Med Genet 2010; 152A: 1990\u20131993.","journal-title":"Am J Med Genet"},{"key":"BFejhg2011166_CR9","doi-asserted-by":"publisher","first-page":"1329","DOI":"10.1038\/ng.243","volume":"40","author":"RH Scott","year":"2008","unstructured":"Scott RH, Douglas J, Baskcomb L et al: Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms' tumor. Nat Genet 2008; 40: 1329\u20131334.","journal-title":"Nat Genet"},{"key":"BFejhg2011166_CR10","doi-asserted-by":"publisher","first-page":"27960","DOI":"10.1074\/jbc.M202280200","volume":"277","author":"N Hori","year":"2002","unstructured":"Hori N, Nakano H, Takeuchi T et al: A dyad oct-binding sequence functions as a maintenance sequence for the unmethylated state within the H19\/Igf2-imprinted control region. J Biol Chem 2002; 277: 27960\u201327967.","journal-title":"J Biol Chem"},{"key":"BFejhg2011166_CR11","volume-title":"GeneReviews [Internet]","author":"C Shuman","year":"1993","unstructured":"Shuman C, Beckwith JB, Smith AC, Weksberg R : Beckwith-Wiedemann syndrome; in Pagon RA, Bird TC, Dolan CR et al, (eds): GeneReviews [Internet]. Seattle: University of Washington, 1993 (\n                    http:\/\/www.ncbi.nlm.nih.gov\/sites\/GeneTests\/review?db=GeneTests\n                    \n                  )."}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011166","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011166.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011166.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:03:24Z","timestamp":1684429404000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2011166"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,8,24]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["BFejhg2011166"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2011.166","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,8,24]]}}}