{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T16:27:41Z","timestamp":1762100861893,"version":"build-2065373602"},"reference-count":39,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,5]]},"abstract":"<jats:p>Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome associated with a characteristic pattern of visceromegaly and predisposition to childhood tumours. BWS is a genetically heterogeneous disorder; most cases are sporadic but approximately 15% are familial and a small number of BWS patients have cytogenetic abnormalities involving chromosome 11p15. Genomic imprinting effects have been implicated in familial and non-familial BWS. We have investigated the molecular pathology of 106 sporadic BWS cases; 17% (14\/83) of informative cases had uniparental disomy (UPD) for chromosome 11p15.5. In each case UPD appeared to result from a postzygotic event resulting in mosaicism for segmental paternal isodisomy. The critical region for isodisomy was refined to a 25 cM interval between D11S861 and D11S2071 which contained the IGF2, H19, and p57(KIP2) genes. In three cases isodisomy for 11q markers was detected but this did not extend further than 11q13-q21 suggesting that complete chromosome 11 disomy may not produce a BWS phenotype. The allele specific methylation status of the H19 gene was investigated in 80 sporadic BWS cases. All 13 cases with UPD tested displayed hypermethylation consistent with an excess of paternal H19 alleles. In addition, five of 63 (8%) cases with normal biparental inheritance had H19 hypermethylation consistent with an \"imprinting centre\" mutation (ICM) or \"imprinting error\" (IE) lesion. The phenotype of patients with putative ICM\/IE mutations was variable and overlapped with that of non-UPD sporadic BWS cases with normal H19 methylation. However, exomphalos was significantly (p &lt; 0.05) more common in the latter group. These findings may indicate differential effects on the expression of imprinted genes in chromosome 11p15 according to the precise molecular pathology. Analysis of H19 methylation is useful for the diagnosis of both UPD or altered imprinting in BWS and shows that a variety of molecular mechanisms may cause relaxation of IGF2 imprinting in BWS.<\/jats:p>","DOI":"10.1136\/jmg.34.5.353","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"353-359","source":"Crossref","is-referenced-by-count":73,"title":["Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome."],"prefix":"10.1136","volume":"34","author":[{"given":"D","family":"Catchpoole","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W W","family":"Lam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Valler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I K","family":"Temple","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Joyce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W","family":"Reik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P N","family":"Schofield","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E R","family":"Maher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1126\/science.270.5242.1610","article-title":"Gametic imprinting in mammals","volume":"270","author":"Barlow, D.O.","year":"1995","unstructured":"Barlow DO. Gametic imprinting in mammals. Science 1995;270:1610-13.","journal-title":"Science"},{"key":"ref_2","first-page":"265","article-title":"Parental imprinting of autosomal mammalian genes Curr Opin Genet Dev","volume":"4","author":"Efstradiatis, A.","year":"1994","unstructured":"Efstradiatis A. Parental imprinting of autosomal mammalian genes Curr Opin Genet Dev 1994;4:265-80."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/0168-9525(89)90138-8","article-title":"Genomic imprinting and genetic disorders in man","volume":"5","author":"Reik, W.","year":"1989","unstructured":"Reik W. Genomic imprinting and genetic disorders in man. Trends Genet 1989;5:331-6.","journal-title":"Trends Genet"},{"key":"ref_4","first-page":"431","article-title":"Genomic imprinting; mechanism and role in human pathology","volume":"144","author":"Tycko, B.","year":"1994","unstructured":"Tycko B. Genomic imprinting; mechanism and role in human pathology. Am J Pathol 1994;144:431-43.","journal-title":"Am J Pathol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/jmg.29.4.217","article-title":"Beckwith Wiedemann syndrome: nisms responsible for the a demonstration of the mechaexcess of transmitting females","volume":"29","author":"Moutou, C.; Junien, C.; Henry, I.; Bonaiti-Pellie, C.","year":"1992","unstructured":"Moutou C, Junien C, Henry I, Bonaiti-Pellie C. Beckwith Wiedemann syndrome: nisms responsible for the a demonstration of the mechaexcess of transmitting females. J Med Genet 1992;29:217-20.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1136\/jmg.29.4.221","article-title":"Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome","volume":"29","author":"Viljoen, D.; Ramesar, R.","year":"1992","unstructured":"Viljoen D, Ramesar R. Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome. J Med Genet 1992;29:221-5.","journal-title":"J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1038\/351665a0","article-title":"Uniparental paternal disomy in a genetic cancer-predisposing syndrome","volume":"351","author":"Henry, I.; Bonaiti-Pellie, C.; Chehensse, V.","year":"1991","unstructured":"Henry I, Bonaiti-Pellie C, Chehensse V, et al. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 1991;351:665-7.","journal-title":"Nature"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1159\/000472384","article-title":"Somatic mosaicism for partial paternal syndrome: a post isodisomy fertilisation in Wiedemann-Beckwith event","volume":"1","author":"Henry, I.; Puesch, A.; Riesewijk, A.; etal","year":"1993","unstructured":"Henry I, Puesch A, Riesewijk A, etal. Somatic mosaicism for partial paternal syndrome: a post isodisomy fertilisation in Wiedemann-Beckwith event. Eur J Hum Genet 1993;1: 19-29.","journal-title":"Eur J Hum Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/0165-4608(92)90136-V","article-title":"Paternal origin of I1 p 15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature","volume":"58","author":"Brown, K.W.; Gardner, A.; Williams, J.C.; Mott, M.G.; McDermott, A.; Maitland, N.J.","year":"1992","unstructured":"Brown KW, Gardner A, Williams JC, Mott MG, McDermott A, Maitland NJ. Paternal origin of I1 p 15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature. Cancer Genet Cytogenet 1992;58:66-70.","journal-title":"Cancer Genet Cytogenet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1093\/hmg\/2.5.549","article-title":"Molecular characterisation of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome phenotype refines the localisation and suggests the gene for BWS is imprinted","volume":"2","author":"Weksberg, R.; Teshima, I.; Williams, B.","year":"1993","unstructured":"Weksberg R, Teshima I, Williams B, et al. Molecular characterisation of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome phenotype refines the localisation and suggests the gene for BWS is imprinted. Hum Mol Genet 1993;2:549-56.","journal-title":"Hum Mol Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1002\/ajmg.1320420441","article-title":"Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (I1)(pll.2p15.5)","volume":"42","author":"Norman, A.M.; T, Donnai D.","year":"1992","unstructured":"Norman AM, Read AP, Clayton-Smith J, Andrews T, Donnai D. Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (I1)(pll.2p15.5). Am J Med Genet 1992;42:638-41.","journal-title":"Am J Med Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2379","DOI":"10.1093\/hmg\/4.12.2379","article-title":"Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain","volume":"4","author":"Reik, W.; Brown, K.; Schneid, H.; Le Bouc, Y.; Bickmore, W.; Maher, E.R.","year":"1995","unstructured":"Reik W, Brown K, Schneid H, Le Bouc Y, Bickmore W, Maher ER. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain. Hum Mol Genet 1995;4: 2379-85.","journal-title":"Hum Mol Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0303-7207(93)90067-T","article-title":"GR What is the function of circulating IGF-II in postnatal life?","volume":"92","author":"Gluckman, P.D.; Ambler","year":"1993","unstructured":"Gluckman PD, Ambler GR What is the function of circulating IGF-II in postnatal life? Mol Cell Endocrinol 1993;92: C1-3.","journal-title":"Mol Cell Endocrinol"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1016\/0092-8674(91)90513-X","article-title":"Parental imprinting of the mouse insulin-like growth factor II gene","volume":"64","author":"de Chiara TM; A, Efstradiatis; E, Robertson","year":"1991","unstructured":"de Chiara TM, Efstradiatis A, Robertson E. Parental imprinting of the mouse insulin-like growth factor II gene. Cell 1991;64:849-59.","journal-title":"Cell"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/375034a0","article-title":"Disruption of imprinting caused by deletion of the H19 gene region in mice","volume":"375","author":"Leighton, P.A.; Ingram, R.S.; Eggenschwiler, J.; Efstratiadis, A.; Tilghman, S.M.","year":"1995","unstructured":"Leighton PA, Ingram RS, Eggenschwiler J, Efstratiadis A, Tilghman SM. Disruption of imprinting caused by deletion of the H19 gene region in mice. Nature 1995;375:34-9.","journal-title":"Nature"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1843","DOI":"10.1101\/gad.6.10.1843","article-title":"Paternal imprinting: potentiallly active chromatin of the repressed allele of the mouse igf2 gene","volume":"6","author":"Sasaki, H.; Jones, P.A.; Chillet, JR","year":"1992","unstructured":"Sasaki H, Jones PA, Chillet JR, et al. Paternal imprinting: potentiallly active chromatin of the repressed allele of the mouse igf2 gene. Genes Dev 1992;6:1843-56.","journal-title":"Genes Dev"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1038\/362751a0","article-title":"A parental-origin-specific epigenetic modification of the mouse H19 gene","volume":"362","author":"Ferguson-Smith, A.C.; Sasaki, H.; Cattanach, B.M.; Surani, A.","year":"1993","unstructured":"Ferguson-Smith AC, Sasaki H, Cattanach BM, Surani A. A parental-origin-specific epigenetic modification of the mouse H19 gene. Nature 1993;362:751-5.","journal-title":"Nature"},{"key":"ref_18","first-page":"21933","article-title":"Developmental control of allelic methylation in the imprinted mouse IGF2 and H19 genes","volume":"120","author":"Feil, R.; Walter, J.; Allen, N.D.; Reik, W.","year":"1994","unstructured":"Feil R, Walter J, Allen ND, Reik W. Developmental control of allelic methylation in the imprinted mouse IGF2 and H19 genes. Development 1994;120:21933-43.","journal-title":"Development"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"3669","DOI":"10.1002\/j.1460-2075.1993.tb06041.x","article-title":"The ontogeny of allele specific methylation associated with imprinted genes in the mouse","volume":"12","author":"Brandeis, M.; Kafri, T.; Ariel, M.","year":"1993","unstructured":"Brandeis M, Kafri T, Ariel M, et al. The ontogeny of allele specific methylation associated with imprinted genes in the mouse. EMBO_ 1993;12:3669-77.","journal-title":"EMBO_"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1093\/hmg\/3.8.1297","article-title":"Allelic methylation of H 19 and IGF2 in the Beckwith-Wiedemann syndrome","volume":"3","author":"Reik, W.; Brown, K.W.; Slatter, R.E.; Sartori, P.; Elliott, M.; Maher, E.R.","year":"1994","unstructured":"Reik W, Brown KW, Slatter RE, Sartori P, Elliott M, Maher ER. Allelic methylation of H 19 and IGF2 in the Beckwith-Wiedemann syndrome. Hum Mol Genet 1994;3:1297-301.","journal-title":"Hum Mol Genet"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1038\/nm0396-311","article-title":"Somatic overgrowth associated with overexpression of insulin-like growth factor II","volume":"2","author":"Morison, I.M.; Becroft, D.; Taniguchi, T.; Woods, C.G.; Reeve, A.","year":"1996","unstructured":"Morison IM, Becroft D, Taniguchi T, Woods CG, Reeve A. Somatic overgrowth associated with overexpression of insulin-like growth factor II. Nat Med 1996;2:311-16.","journal-title":"Nat Med"},{"key":"ref_22","first-page":"1257","article-title":"An internal deletion within an lp 13 zinc finger gene contributes to the dvelopment of Wilms'","volume":"61","author":"Haber, D.A.; Buckler, A.J.; Glaser, T.","year":"1990","unstructured":"Haber DA, Buckler AJ, Glaser T, et al. An internal deletion within an lp 13 zinc finger gene contributes to the dvelopment of Wilms' tumour. Cell 1990;61:1257-69. Inheritance of Hl 9 in Beckwith-Wiedemann syndrome","journal-title":"tumour. Cell"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1016\/0888-7543(92)90133-D","article-title":"Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms","volume":"13","author":"Hudson, T.J.; Engelstein, M.; Lee, M.K.","year":"1992","unstructured":"Hudson TJ, Engelstein M, Lee MK, et al. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 1992;13: 622-7.","journal-title":"Genomics"},{"key":"ref_24","first-page":"699","article-title":"A sequencetagged site map of human chromosome 11","volume":"17","author":"Smith, M.W.; Clark, S.P.; Hutchinson, J.S.","year":"1995","unstructured":"Smith MW, Clark SP, Hutchinson JS, et al. A sequencetagged site map of human chromosome 11. Genomics 1995; 17:699-725.","journal-title":"Genomics"},{"key":"ref_25","first-page":"600","article-title":"Dinucleotide repeat polymorphism at the human chromosome 1 Ip teleomere","volume-title":"Genomics","volume":"2071","author":"Browne, D.L.; Smith, E.A.; Dietz-Band, J.; Reithmann, H.C.; Phromchotikul, T.; Litt, M.","year":"1995","unstructured":"Browne DL, Smith EA, Dietz-Band J, Reithmann HC, Phromchotikul T, Litt M. Dinucleotide repeat polymorphism at the human chromosome 1 Ip teleomere (D 11 S2071). Genomics 1995;25:600-1."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1006\/geno.1994.1280","article-title":"Assignment of 112 microsatellite markers to 23 chromosome 11 subregions delineated by somatic hybrids: comparison with the genetic map","volume":"21","author":"Coullin, P.; Guern, E.L.; Vignal, A.","year":"1994","unstructured":"Coullin P, Guern EL, Vignal A, et al. Assignment of 112 microsatellite markers to 23 chromosome 11 subregions delineated by somatic hybrids: comparison with the genetic map. Genomics 1994;21:379-87.","journal-title":"Genomics"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1093\/hmg\/4.suppl_1.1757","article-title":"Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis","volume":"4","author":"Ledbetter, D.H.; Engel, E.","year":"1995","unstructured":"Ledbetter DH, Engel E. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 1995;4:1757-64.","journal-title":"Hum Mol Genet"},{"key":"ref_28","first-page":"773","article-title":"A case of paternal uniparental disomy for chromosome 11","volume-title":"Prenat Diagn","volume":"15","author":"Webb, A.; Beard, J.; Wright, C.; Robson, S.; Goodship, Wolstenholme J.I.; J.","year":"1995","unstructured":"Webb A, Beard J, Wright C, Robson S, Wolstenholme JI Goodship J. A case of paternal uniparental disomy for chromosome 11. Prenat Diagn 1995;15:773-7."},{"key":"ref_29","first-page":"56","article-title":"A gene subject to genomic imprinting and responsible for paragangliomas maps to chromosome 1 lq23-qter. Hum Mol Genet 1992; 1: 7-10 38 Mariman ECM, van Beersum SEC, Cremmers CWRJ, Struycken PM, Ropers HH. Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11 ql 3.1: evidence for genetic heterogeneity","volume":"95","author":"Heutink, P.; van der Mey, A.G.L.; Sandkuijl, L.A.","year":"1995","unstructured":"Heutink P, van der Mey AGL, Sandkuijl LA, et al. A gene subject to genomic imprinting and responsible for paragangliomas maps to chromosome 1 lq23-qter. Hum Mol Genet 1992;1:7-10 38 Mariman ECM, van Beersum SEC, Cremmers CWRJ, Struycken PM, Ropers HH. Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11 ql 3.1: evidence for genetic heterogeneity. Hum Genet 1995;95:56-62.","journal-title":"Hum Genet"},{"key":"ref_30","first-page":"574","article-title":"Insulin-like growth factor 2 cannot be linked to a familial form of Beckwith-Wiedemann syndrome","volume":"153","author":"Nystrom, A.; Hedborg, F.; Ohlsson, R.","year":"1994","unstructured":"Nystrom A, Hedborg F, Ohlsson R. Insulin-like growth factor 2 cannot be linked to a familial form of Beckwith-Wiedemann syndrome. Eur7 Pediatr 1994;153:574-80."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/ng1093-143","article-title":"Disruption of insulin-like growth factor 2 imprinting in Beckwith Wiedemann syndrome","volume":"5","author":"Weksberg, R.; Shen, D.R.; Fei, Y.L.; Song, Q.L.; Squire, J.","year":"1993","unstructured":"Weksberg R, Shen DR, Fei YL, Song QL, Squire J. Disruption of insulin-like growth factor 2 imprinting in Beckwith Wiedemann syndrome. Nat Genet 1993;5:143-50.","journal-title":"Nat Genet"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1093\/hmg\/4.3.395","article-title":"Single cell analysis demonstrating somatic masaicism involving llp in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome","volume":"4","author":"Bischoff, F.Z.; Feldman, G.L.; McCaskill, C.; Subramanian, S.; Hughes, M.R.; Shaffer, L.G.","year":"1995","unstructured":"Bischoff FZ, Feldman GL, McCaskill C, Subramanian S, Hughes MR, Shaffer LG. Single cell analysis demonstrating somatic masaicism involving llp in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome. Hum Mol Genet 1995;4:395-9.","journal-title":"Hum Mol Genet"},{"key":"ref_33","first-page":"22","article-title":"Physical mapping of 3 candidate tumour suppressor genes relative to BWS associated chromosomal breakpoints at lp 15.3","volume":"68","author":"Redeker, E.; Alders, M.; Hoovers, J.M.N.; Richard CW, III, Westerveld; A, Mannens; M.","year":"1995","unstructured":"Redeker E, Alders M, Hoovers JMN, Richard CW III, Westerveld A, Mannens M. Physical mapping of 3 candidate tumour suppressor genes relative to BWS associated chromosomal breakpoints at lp 15.3. Cytogenet Cell Genet 1995;68:22-5.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1038\/ng0794-440","article-title":"Epigenetic lesions at the HI 9 locus in Wilms' tumour patients","volume":"7","author":"Moulton, T.; Crenshaw, T.; Hao, Y.","year":"1994","unstructured":"Moulton T, Crenshaw T, Hao Y, et al. Epigenetic lesions at the HI 9 locus in Wilms' tumour patients. Nat Genet 1994; 7:440-7.","journal-title":"Nat Genet"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/ng0794-433","article-title":"Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms tumour","volume":"7","author":"Steenman, M.J.C.; Rainier, S.; Dobry, C.J.; Grundy, P.; Horon, I.; Feinberg, A.P.","year":"1994","unstructured":"Steenman MJC, Rainier S, Dobry CJ, Grundy P, Horon I, Feinberg, AP. Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms tumour. Nat Genet 1994;7:433-9.","journal-title":"Nat Genet"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1038\/366362a0","article-title":"Role for DNA methylation in genomic imprinting","volume":"366","author":"Li, E.; Beard, C.; Jaenisch, R.","year":"1993","unstructured":"Li E, Beard C, Jaenisch R. Role for DNA methylation in genomic imprinting. Nature 1993;366:362-5.","journal-title":"Nature"},{"key":"ref_37","first-page":"3985","article-title":"Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome","volume":"9","author":"Buiting, K.; Saitoh, S.; Gross, S.","year":"1995","unstructured":"Buiting K, Saitoh S, Gross S, et al. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 1995;9:3985-401.","journal-title":"15. Nat Genet"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"2027","DOI":"10.1093\/hmg\/5.12.2027","article-title":"Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through a H 19-independent pathway","volume":"5","author":"Brown, K.W.; Villar, A.J.; Bickmore, W.","year":"1996","unstructured":"Brown KW, Villar AJ, Bickmore W, et al. Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through a H 19-independent pathway. Hum Mol Genet 1996;5:2027-32.","journal-title":"Hum Mol Genet"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"3026","DOI":"10.1073\/pnas.93.7.3026","volume":"93","author":"Matsouka","year":"1996","unstructured":"Matsouka et al. Proc NatlAcad Sci USA 1996;93:3026-30.","journal-title":"Proc NatlAcad Sci USA"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.34.5.353","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:32:08Z","timestamp":1760729528000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.34.5.353"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,5]]},"references-count":39,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1997,5,1]]},"published-print":{"date-parts":[[1997,5]]}},"alternative-id":["10.1136\/jmg.34.5.353"],"URL":"https:\/\/doi.org\/10.1136\/jmg.34.5.353","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1997,5]]}}}