{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T11:24:54Z","timestamp":1789989894310,"version":"4.0.1"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2008,1,9]],"date-time":"2008-01-09T00:00:00Z","timestamp":1199836800000},"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":[[2008,3]]},"DOI":"10.1038\/sj.ejhg.5201974","type":"journal-article","created":{"date-parts":[[2007,12,26]],"date-time":"2007-12-26T11:37:07Z","timestamp":1198669027000},"page":"328-334","source":"Crossref","is-referenced-by-count":38,"title":["IGF2\/H19 hypomethylation in Silver\u2013Russell syndrome and isolated hemihypoplasia"],"prefix":"10.1038","volume":"16","author":[{"given":"Michael","family":"Zeschnigk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"Albrecht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Buiting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deniz","family":"Kanber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerhard","family":"Binder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f6rg","family":"Gromoll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva-Christina","family":"Prott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia","family":"Seland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Horsthemke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,1,9]]},"reference":[{"key":"BF5201974_CR1","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1542\/peds.12.4.368","volume":"12","author":"HK Silver","year":"1953","unstructured":"Silver HK, Kiyasu W, George J, Deamer WC : Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 1953; 12: 368\u2013376.","journal-title":"Pediatrics"},{"key":"BF5201974_CR2","first-page":"1040","volume":"47","author":"A Russell","year":"1954","unstructured":"Russell A : A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med 1954; 47: 1040\u20131044.","journal-title":"Proc R Soc Med"},{"key":"BF5201974_CR3","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1002\/ajmg.1320350220","volume":"35","author":"PA Duncan","year":"1990","unstructured":"Duncan PA, Hall JG, Shapiro LR, Vibert BK : Three-generation dominant transmission of the Silver\u2013Russell syndrome. Am J Med Genet 1990; 35: 245\u2013250.","journal-title":"Am J Med Genet"},{"key":"BF5201974_CR4","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1136\/jmg.38.4.273","volume":"38","author":"K Hannula","year":"2001","unstructured":"Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M : Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver\u2013Russell phenotype? J Med Genet 2001; 38: 273\u2013278.","journal-title":"J Med Genet"},{"key":"BF5201974_CR5","first-page":"837","volume":"36","author":"SM Price","year":"1999","unstructured":"Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC : The spectrum of Silver\u2013Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999; 36: 837\u2013842.","journal-title":"J Med Genet"},{"key":"BF5201974_CR6","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1136\/jmg.2005.038687","volume":"43","author":"T Eggermann","year":"2006","unstructured":"Eggermann T, Sch\u00f6nherr N, Meyer E et al: Epigenetic mutations in 11p15 in Silver\u2013Russell syndrome are restricted to the telomeric imprinting domain. J Med Genet 2006; 43: 615\u2013616.","journal-title":"J Med Genet"},{"key":"BF5201974_CR7","first-page":"188","volume":"5","author":"JB Beckwith","year":"1969","unstructured":"Beckwith JB : Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects Orig Art Ser 1969; 5: 188\u2013196.","journal-title":"Birth Defects Orig Art Ser"},{"key":"BF5201974_CR8","first-page":"223","volume":"13","author":"HR Wiedemann","year":"1964","unstructured":"Wiedemann HR : [Familial Malformation complex with Umbilical Hernia and Macroglossia \u2013 a \u2018New Syndrome\u2019?]. J Genet Hum 1964; 13: 223\u2013232.","journal-title":"J Genet Hum"},{"key":"BF5201974_CR9","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1136\/jmg.2006.044370","volume":"44","author":"N Sch\u00f6nherr","year":"2007","unstructured":"Sch\u00f6nherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T : The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. J Med Genet 2007; 44: 59\u201363.","journal-title":"J Med Genet"},{"key":"BF5201974_CR10","doi-asserted-by":"publisher","first-page":"5203","DOI":"10.1073\/pnas.96.9.5203","volume":"96","author":"MP Lee","year":"1999","unstructured":"Lee MP, DeBaun MR, Mitsuya K et al: 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. Proc Natl Acad Sci USA 1999; 96: 5203\u20135208.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201974_CR11","doi-asserted-by":"publisher","first-page":"2691","DOI":"10.1093\/hmg\/9.18.2691","volume":"9","author":"S Engemann","year":"2000","unstructured":"Engemann S, Strodicke M, Paulsen M et al: Sequence and functional comparison in the Beckwith\u2013Wiedemann region: implications for a novel imprinting centre and extended imprinting. Hum Mol Genet 2000; 9: 2691\u20132706.","journal-title":"Hum Mol Genet"},{"key":"BF5201974_CR12","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1038\/35013106","volume":"405","author":"AT Hark","year":"2000","unstructured":"Hark AT, Schoenherr CJ, Katz DJ, Ingram RS, Levorse JM, Tilghman SM : CTCF mediates methylation-sensitive enhancer-blocking activity at the H19\/Igf2 locus. Nature 2000; 405: 486\u2013489.","journal-title":"Nature"},{"key":"BF5201974_CR13","doi-asserted-by":"publisher","first-page":"2619","DOI":"10.1093\/hmg\/10.23.2619","volume":"10","author":"D Takai","year":"2001","unstructured":"Takai D, Gonzales FA, Tsai YC, Thayer MJ, Jones PA : Large scale mapping of methylcytosines in CTCF-binding sites in the human H19 promoter and aberrant hypomethylation in human bladder cancer. Hum Mol Genet 2001; 10: 2619\u20132626.","journal-title":"Hum Mol Genet"},{"key":"BF5201974_CR14","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.1038\/ng1629","volume":"37","author":"C Gicquel","year":"2005","unstructured":"Gicquel C, Rossignol S, Cabrol S et al: Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver\u2013Russell syndrome. Nat Genet 2005; 37: 1003\u20131007.","journal-title":"Nat Genet"},{"key":"BF5201974_CR15","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1086\/502981","volume":"78","author":"J Bliek","year":"2006","unstructured":"Bliek J, Terhal P, van den Bogaard MJ et al: Hypomethylation of the H19 gene causes not only Silver\u2013Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Am J Hum Genet 2006; 78: 604\u2013614.","journal-title":"Am J Hum Genet"},{"key":"BF5201974_CR16","doi-asserted-by":"publisher","first-page":"e125","DOI":"10.1093\/nar\/gnh122","volume":"32","author":"M Zeschnigk","year":"2004","unstructured":"Zeschnigk M, B\u00f6hringer S, Price EA, Onadim Z, Masshofer L, Lohmann DR : A novel real-time PCR assay for quantitative analysis of methylated alleles (QAMA): analysis of the retinoblastoma locus. Nucleic Acids Res 2004; 32: e125.","journal-title":"Nucleic Acids Res"},{"key":"BF5201974_CR17","unstructured":"World Health Organization: WHO Laboratory manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction. 4th ed. Cambridge, UK: Cambridge University Press, 1999."},{"key":"BF5201974_CR18","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1093\/hmg\/6.3.387","volume":"6","author":"M Zeschnigk","year":"1997","unstructured":"Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W : Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi\/Angelman syndrome region as determined by the genomic sequencing method. Hum Mol Genet 1997; 6: 387\u2013395.","journal-title":"Hum Mol Genet"},{"key":"BF5201974_CR19","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/S1050-3862(98)00019-9","volume":"14","author":"KJ Livak","year":"1999","unstructured":"Livak KJ : Allelic discrimination using fluorogenic probes and the 5' nuclease assay. Genet Anal 1999; 14: 143\u2013149.","journal-title":"Genet Anal"},{"key":"BF5201974_CR20","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1002\/humu.10076","volume":"19","author":"JB de Kok","year":"2002","unstructured":"de Kok JB, Wiegerinck ET, Giesendorf BA, Swinkels DW : Rapid genotyping of single nucleotide polymorphisms using novel minor groove binding DNA oligonucleotides (MGB probes). Hum Mutat 2002; 19: 554\u2013559.","journal-title":"Hum Mutat"},{"key":"BF5201974_CR21","doi-asserted-by":"publisher","first-page":"5438","DOI":"10.1093\/nar\/gkl657","volume":"34","author":"J Tost","year":"2006","unstructured":"Tost J, Jammes H, Dupont JM et al: Non-random, individual-specific methylation profiles are present at the sixth CTCF binding site in the human H19\/IGF2 imprinting control region. Nucleic Acids Res 2006; 34: 5438\u20135448.","journal-title":"Nucleic Acids Res"},{"key":"BF5201974_CR22","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1093\/nar\/gkm371","volume":"35","author":"J Tost","year":"2007","unstructured":"Tost J, Jammes H, Dupont JM et al: Non-random, individual-specific methylation profiles are present at the sixth CTCF binding site in the human H19\/IGF2 imprinting control region. Nucleic Acids Res 2007; 35: 701.","journal-title":"Nucleic Acids Res"},{"key":"BF5201974_CR23","doi-asserted-by":"publisher","first-page":"2183","DOI":"10.1093\/hmg\/9.14.2183","volume":"9","author":"A Kerjean","year":"2000","unstructured":"Kerjean A, Dupont JM, Vasseur C et al: Establishment of the paternal methylation imprint of the human H19 and MEST\/PEG1 genes during spermatogenesis. Hum Mol Genet 2000; 9: 2183\u20132187.","journal-title":"Hum Mol Genet"},{"key":"BF5201974_CR24","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1002\/ajmg.a.30578","volume":"134","author":"RA Martin","year":"2005","unstructured":"Martin RA, Grange DK, Zehnbauer B, Debaun MR : LIT1 and H19 methylation defects in isolated hemihyperplasia. Am J Med Genet A 2005; 134: 129\u2013131.","journal-title":"Am J Med Genet A"},{"key":"BF5201974_CR25","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/ajmg.c.30064","volume":"137","author":"P Lapunzina","year":"2005","unstructured":"Lapunzina P : Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. Am J Med Genet C Semin Med Genet 2005; 137: 53\u201371.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"BF5201974_CR26","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1006\/geno.1999.5813","volume":"58","author":"TL Davis","year":"1999","unstructured":"Davis TL, Trasler JM, Moss SB, Yang GJ, Bartolomei MS : Acquisition of the H19 methylation imprint occurs differentially on the parental alleles during spermatogenesis. Genomics 1999; 58: 18\u201328.","journal-title":"Genomics"},{"key":"BF5201974_CR27","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/S0167-4781(01)00190-7","volume":"1518","author":"T Hamatani","year":"2001","unstructured":"Hamatani T, Sasaki H, Ishihara K et al: Epigenetic mark sequence of the H19 gene in human sperm. Biochim Biophys Acta 2001; 1518: 137\u2013144.","journal-title":"Biochim Biophys Acta"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201974.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201974","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201974.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:40:04Z","timestamp":1684374004000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201974"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,9]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["BF5201974"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201974","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,9]]}}}