{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T10:13:50Z","timestamp":1791022430353,"version":"4.1.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2008,12,17]],"date-time":"2008-12-17T00:00:00Z","timestamp":1229472000000},"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":[[2009,5]]},"DOI":"10.1038\/ejhg.2008.233","type":"journal-article","created":{"date-parts":[[2008,12,17]],"date-time":"2008-12-17T08:38:08Z","timestamp":1229503088000},"page":"611-619","source":"Crossref","is-referenced-by-count":184,"title":["Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith\u2013Wiedemann syndrome"],"prefix":"10.1038","volume":"17","author":[{"given":"Jet","family":"Bliek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetano","family":"Verde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Callaway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia M","family":"Maas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agostina","family":"De Crescenzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Sparago","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia","family":"Cerrato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Ferraiuolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Michela","family":"Rinaldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Fischetto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faustina","family":"Lalatta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Giordano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Vittoria","family":"Cubellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Larizza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I Karen","family":"Temple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcel M A M","family":"Mannens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah J G","family":"Mackay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Riccio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,12,17]]},"reference":[{"key":"BFejhg2008233_CR1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/35047554","volume":"2","author":"W Reik","year":"2001","unstructured":"Reik W, Walter J : Genomic imprinting: parental influence on the genome. Nat Rev Genet 2001; 2: 21\u201332.","journal-title":"Nat Rev Genet"},{"key":"BFejhg2008233_CR2","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1002\/bies.20407","volume":"28","author":"K Delaval","year":"2006","unstructured":"Delaval K, Wagschal A, Feil R : Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. Bioessays 2006; 28: 453\u2013459.","journal-title":"Bioessays"},{"key":"BFejhg2008233_CR3","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1038\/nature05919","volume":"447","author":"AP Feinberg","year":"2007","unstructured":"Feinberg AP : Phenotypic plasticity and the epigenetics of human disease. Nature 2007; 447: 433\u2013440.","journal-title":"Nature"},{"key":"BFejhg2008233_CR4","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1159\/000090842","volume":"113","author":"B Tycko","year":"2006","unstructured":"Tycko B : Imprinted genes in placental growth and obstetric disorders. Cytogenet Genome Res 2006; 113: 271\u2013278.","journal-title":"Cytogenet Genome Res"},{"key":"BFejhg2008233_CR5","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1002\/ajmg.c.30058","volume":"137","author":"R Weksberg","year":"2005","unstructured":"Weksberg R, Shuman C, Smith AC : Beckwith\u2013Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2005; 137: 12\u201323.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"BFejhg2008233_CR6","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1093\/hmg\/ddl448","volume":"16","author":"A Sparago","year":"2007","unstructured":"Sparago A, Russo S, Cerrato F et al: Mechanisms causing imprinting defects in familial Beckwith\u2013Wiedemann syndrome with Wilms\u2019 tumour. Hum Mol Genet 2007; 16: 254\u2013264.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2008233_CR7","doi-asserted-by":"publisher","first-page":"4085","DOI":"10.1073\/pnas.0500037102","volume":"102","author":"D Prawitt","year":"2005","unstructured":"Prawitt D, Enklaar T, G\u00e4rtner-Rupprecht B et al: Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith\u2013Wiedemann syndrome and Wilms\u2019 tumor. Proc Natl Acad Sci USA 2005; 102: 4085\u20134090.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg2008233_CR8","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\u2013Wiedemann syndrome and Wilms\u2019 tumour. Hum Mol Genet 2008; 17: 1427\u20131435.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2008233_CR9","doi-asserted-by":"publisher","first-page":"902","DOI":"10.1136\/jmg.2006.042135","volume":"43","author":"S Rossignol","year":"2006","unstructured":"Rossignol S, Steunou V, Chalas C et al: The epigenetic imprinting defect of patients with Beckwith\u2013Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. J Med Genet 2006; 43: 902\u2013907.","journal-title":"J Med Genet"},{"key":"BFejhg2008233_CR10","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/s00439-005-0127-4","volume":"119","author":"DJ Mackay","year":"2006","unstructured":"Mackay DJ, Hahnemann JM, Boonen SE et al: Epimutation of the TND locus and the Beckwith\u2013Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Hum Genet 2006a; 119: 179\u2013184.","journal-title":"Hum Genet"},{"key":"BFejhg2008233_CR11","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1007\/s00439-006-0205-2","volume":"120","author":"DJG Mackay","year":"2006","unstructured":"Mackay DJG, Boonen SE, Clayton-Smith J et al: A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet 2006b; 120: 262\u2013269.","journal-title":"Hum Genet"},{"key":"BFejhg2008233_CR12","doi-asserted-by":"publisher","first-page":"872","DOI":"10.1136\/jmg.39.12.872","volume":"39","author":"IK Temple","year":"2002","unstructured":"Temple IK, Shield JP : Transient neonatal diabetes, a disorder of imprinting. J Med Genet 2002; 39: 872\u2013875.","journal-title":"J Med Genet"},{"key":"BFejhg2008233_CR13","doi-asserted-by":"publisher","first-page":"2650","DOI":"10.1093\/nar\/gki555","volume":"33","author":"T Arima","year":"2005","unstructured":"Arima T, Kamikihara T, Hayashida T et al: ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith\u2013Wiedemann syndrome. Nucleic Acids Res 2005; 33: 2650\u20132660.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg2008233_CR14","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1016\/S0022-3476(98)70008-3","volume":"132","author":"MR DeBaun","year":"1998","unstructured":"DeBaun MR, Tucker MA : Risk of cancer during the first four years of life in children from The Beckwith\u2013Wiedemann Syndrome Registry. J Pediatr 1998; 132: 398\u2013400.","journal-title":"J Pediatr"},{"key":"BFejhg2008233_CR15","doi-asserted-by":"publisher","first-page":"E35","DOI":"10.1542\/peds.108.2.e35","volume":"108","author":"MS Kramer","year":"2001","unstructured":"Kramer MS, Platt RW, Wen SW et al: A new and improved population-based Canadian reference for birth weight for gestational age. Pediatrics 2001; 108: E35.","journal-title":"Pediatrics"},{"key":"BFejhg2008233_CR16","doi-asserted-by":"publisher","first-page":"516","DOI":"10.1136\/adc.71.6.516","volume":"71","author":"JM Buckler","year":"1994","unstructured":"Buckler JM, Green M : Birth weight and head circumference standards for English twins. Arch Dis Child 1994; 71: 516\u2013521.","journal-title":"Arch Dis Child"},{"key":"BFejhg2008233_CR17","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 et al: Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith\u2013Wiedemann syndrome. Nat Genet 2004; 36: 958\u2013960.","journal-title":"Nat Genet"},{"key":"BFejhg2008233_CR18","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":"BFejhg2008233_CR19","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1002\/humu.20113","volume":"25","author":"YL Jiang","year":"2005","unstructured":"Jiang YL, Rigolet M, Bourc\u2019his D et al: DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. Hum Mutat 2005; 25: 56\u201363.","journal-title":"Hum Mutat"},{"key":"BFejhg2008233_CR20","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/1471-2156-4-2","volume":"4","author":"BE Hayward","year":"2003","unstructured":"Hayward BE, De Vos M, Judson H et al: Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline. BMC Genet 2003; 4: 2.","journal-title":"BMC Genet"},{"key":"BFejhg2008233_CR21","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1093\/hmg\/10.5.467","volume":"10","author":"J Bliek","year":"2001","unstructured":"Bliek J, Maas SM, Ruijter JM et al: Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Hum Mol Genet 2001; 10: 467\u2013476.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2008233_CR22","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1038\/sj.ejhg.5201463","volume":"13","author":"WN Cooper","year":"2005","unstructured":"Cooper WN, Luharia A, Evans GA et al: Molecular subtypes and phenotypic expression of Beckwith\u2013Wiedemann syndrome. Eur J Hum Genet 2005; 13: 1025\u20131032.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2008233_CR23","doi-asserted-by":"publisher","first-page":"2536","DOI":"10.1126\/science.1065848","volume":"294","author":"D Bourc\u2019his","year":"2001","unstructured":"Bourc\u2019his D, Xu GL, Lin CS, Bollman B, Bestor TH : Dnmt3L and the establishment of maternal genomic imprints. Science 2001; 294: 2536\u20132539.","journal-title":"Science"},{"key":"BFejhg2008233_CR24","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1007\/978-0-387-77576-0_2","volume":"626","author":"J Peters","year":"2008","unstructured":"Peters J, Williamson CM : Control of imprinting at the Gnas cluster. Adv Exp Med Biol 2008; 626: 16\u201326.","journal-title":"Adv Exp Med Biol"},{"key":"BFejhg2008233_CR25","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1007\/978-0-387-77576-0_3","volume":"626","author":"M Bastepe","year":"2008","unstructured":"Bastepe M : The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Biol 2008; 626: 27\u201340.","journal-title":"Adv Exp Med Biol"},{"key":"BFejhg2008233_CR26","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1016\/j.devcel.2006.09.003","volume":"11","author":"A Varrault","year":"2006","unstructured":"Varrault A, Gueydan C, Delalbre A et al: Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth. Dev Cell 2006; 11: 711\u2013722.","journal-title":"Dev Cell"},{"key":"BFejhg2008233_CR27","doi-asserted-by":"publisher","first-page":"1341","DOI":"10.1038\/ng1891","volume":"38","author":"Z Zhao","year":"2006","unstructured":"Zhao Z, Tavoosidana G, Sj\u00f6linder M et al: Circular chromosome conformation capture (4C) uncovers extensive networks of epigenetically regulated intra- and interchromosomal interactions. Nat Genet 2006; 38: 1341\u20131347.","journal-title":"Nat Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008233.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008233","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008233.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T12:56:09Z","timestamp":1684414569000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2008233"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12,17]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2009,5]]}},"alternative-id":["BFejhg2008233"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2008.233","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12,17]]}}}