{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:05:57Z","timestamp":1790802357368,"version":"4.1.0"},"reference-count":46,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2008,9,1]],"date-time":"2008-09-01T00:00:00Z","timestamp":1220227200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,9,1]],"date-time":"2008-09-01T00:00:00Z","timestamp":1220227200000},"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":[[2008,9]]},"DOI":"10.1016\/j.ejmg.2008.06.001","type":"journal-article","created":{"date-parts":[[2008,7,7]],"date-time":"2008-07-07T16:19:23Z","timestamp":1215447563000},"page":"444-451","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":52,"title":["Maternal uniparental disomy 7 and Silver\u2013Russell syndrome \u2013 Clinical update and comparison with other subgroups"],"prefix":"10.1016","volume":"51","author":[{"given":"Dieter","family":"Kotzot","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2008.06.001_bib1","first-page":"217","article-title":"Uniparental disomy as a mechanism for human genetic disease","volume":"42","author":"Spence","year":"1988","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib2","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1136\/jmg.32.11.871","article-title":"Prenatal and postnatal failure associated with maternal heterodisomy for chromosome 7","volume":"32","author":"Langlois","year":"1995","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib3","first-page":"373","article-title":"Isodisomy for chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?","volume":"45","author":"Voss","year":"1989","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib4","first-page":"1396","article-title":"Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLlA2 locus","volume":"51","author":"Spotila","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib5","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1093\/hmg\/4.4.583","article-title":"Uniparental disomy 7 in Silver\u2013Russell syndrome and primordial growth retardation","volume":"4","author":"Kotzot","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib6","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1136\/jmg.38.4.273","article-title":"Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver\u2013Russell phenotype?","volume":"38","author":"Hannula","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib7","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s004310050064","article-title":"Maternal uniparental disomy 7 \u2013 review and further delineation of the phenotype","volume":"159","author":"Kotzot","year":"2000","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ejmg.2008.06.001_bib8","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1002\/ajmg.10569","article-title":"Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15","volume":"111","author":"Kotzot","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib9","first-page":"273","article-title":"Duplication of 7p12.1\u2013p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver\u2013Russell syndrome","volume":"105","author":"Joyce","year":"1999","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib10","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1097\/00019605-199304000-00002","article-title":"Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver\u2013Russell syndrome","volume":"2","author":"Tamura","year":"1993","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2008.06.001_bib11","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/(SICI)1096-8628(19960301)62:1<10::AID-AJMG3>3.0.CO;2-#","article-title":"Distinct 15q genotypes in Russell\u2013Silver and ring 15 syndromes","volume":"62","author":"Rogan","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib12","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1097\/00019605-199401000-00009","article-title":"An interstitial deletion of proximal 8q (q11\u2013q13) in a girl with Silver\u2013Russell syndrome-like features","volume":"3","author":"Schinzel","year":"1994","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2008.06.001_bib13","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1111\/j.1399-0004.1993.tb03845.x","article-title":"Second observation of Silver\u2013Russell syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25","volume":"44","author":"Midro","year":"1993","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib14","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1089\/109065703322537304","article-title":"Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver\u2013Russell syndrome in 17q24\u2013q25","volume":"7","author":"Prager","year":"2003","journal-title":"Genet. Test."},{"key":"10.1016\/j.ejmg.2008.06.001_bib15","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1007\/s00439-002-0787-2","article-title":"Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation","volume":"111","author":"Fisher","year":"2002","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib16","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1038\/ng1629","article-title":"Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver\u2013Russell syndrome","volume":"37","author":"Gicquel","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib17","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1136\/jmg.38.12.810","article-title":"Silver\u2013Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions","volume":"38","author":"Hitchins","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib18","doi-asserted-by":"crossref","first-page":"3148","DOI":"10.1210\/jc.2007-0354","article-title":"11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell\u2013Silver syndrome: clinical scoring system and epigenetic\u2013phenotypic correlations","volume":"92","author":"Netchine","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ejmg.2008.06.001_bib19","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1097\/01.mcd.0000181605.55382.9a","article-title":"Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face","volume":"15","author":"Eggermann","year":"2006","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2008.06.001_bib20","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1136\/jmg.36.4.326","article-title":"47,XX,UPD(7)mat,+r(7)pat\/46,XX,UPD(7)mat mosaicism in a girl with Silver\u2013Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13\u2013q11 region","volume":"36","author":"Miyoshi","year":"1999","journal-title":"J. Med. Genet."},{"issue":"Suppl. 4","key":"10.1016\/j.ejmg.2008.06.001_bib21","first-page":"2886","article-title":"Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1\/MEST expression","volume":"69","author":"Miozzo","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib22","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1002\/ajmg.a.10101","article-title":"Prenatal diagnosis of a trisomy 7\/maternal uniparental heterodisomy 7 mosaic fetus","volume":"118A","author":"Bilimoria","year":"2003","journal-title":"Am. J. Med. Genet."},{"issue":"9","key":"10.1016\/j.ejmg.2008.06.001_bib23","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1038\/sj.ejhg.5201442","article-title":"Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver\u2013Russell syndrome","volume":"13","author":"Flori","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib24","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/ajmg.10570","article-title":"Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver\u2013Russell patient","volume":"111","author":"Dupont","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib25","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1006\/geno.2002.6695","article-title":"Molecular genetic studies of human chromosome 7 in Russell\/Silver syndrome","volume":"79","author":"Nakabayashi","year":"2002","journal-title":"Genomics"},{"key":"10.1016\/j.ejmg.2008.06.001_bib26","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1007\/s004390050526","article-title":"Molecular studies in 37 Silver\u2013Russell syndrome patients: frequency and etiology of uniparental disomy","volume":"100","author":"Eggermann","year":"1997","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib27","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1002\/(SICI)1096-8628(19991126)87:3<230::AID-AJMG7>3.0.CO;2-S","article-title":"Clinical and molecular findings in two patients with Russell\u2013Silver syndrome and UPD7","volume":"87","author":"Bernard","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib28","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/S0003-3995(00)00010-1","article-title":"Formation of uniparental disomy 7 delineated from new cases and a UPD 7 case after trisomy 7 rescue. Presentation of own results and review of the literature","volume":"43","author":"Mergenthaler","year":"2000","journal-title":"Ann. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib29","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/(SICI)1096-8628(20000320)91:3<237::AID-AJMG17>3.0.CO;2-8","article-title":"Silver\u2013Russell syndrome and cystic fibrosis associated with uniparental disomy 7","volume":"91","author":"Hehr","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib30","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1007\/PL00008372","article-title":"Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7","volume":"159","author":"Potgieter","year":"2000","journal-title":"Eur. J. Pediatr."},{"issue":"Suppl. 1","key":"10.1016\/j.ejmg.2008.06.001_bib31","first-page":"P0286","article-title":"Maternal UPD 7 in the case of cystic fibrosis","volume":"10","author":"Obersztyn","year":"2002","journal-title":"Eur. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2008.06.001_bib32","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/BF03260093","article-title":"Diagnostic proceeding in Silver\u2013Russell syndrome","volume":"9","author":"Eggermann","year":"2005","journal-title":"Mol. Diagn."},{"key":"10.1016\/j.ejmg.2008.06.001_bib33","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1002\/ajmg.a.32125","article-title":"Placental hypoplasia in maternal uniparental disomy for chromosome 7","volume":"146A","author":"Yamazawa","year":"2008","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib34","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1136\/jmg.34.1.6","article-title":"Maternal uniparental disomy 7 in Silver\u2013Russell syndrome","volume":"34","author":"Preece","year":"1997","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib35","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1097\/00019605-200009030-00001","article-title":"Maternal chromosome 7 hetero\/isodisomy in Silver\u2013Russell syndrome and PEG1 biallelic expression","volume":"9","author":"Russo","year":"2000","journal-title":"Clin. Dysmorphol."},{"issue":"10","key":"10.1016\/j.ejmg.2008.06.001_bib36","first-page":"797","article-title":"Russell\u2013Silver syndrome: molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping","volume":"103","author":"Chou","year":"2004","journal-title":"J. Formos. Med. Assoc."},{"issue":"8","key":"10.1016\/j.ejmg.2008.06.001_bib37","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/bdra.20174","article-title":"Clinical outcome and follow-up of the first reported case of Russell\u2013Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7","volume":"73","author":"Font-Montgomery","year":"2005","journal-title":"Birth Defects Res. Part A Clin. Mol. Teratol."},{"key":"10.1016\/j.ejmg.2008.06.001_bib38","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/sj.ejhg.5201158","article-title":"Advanced parental age in maternal uniparental disomy (UPD) \u2013 implications for the mechanism of formation","volume":"12","author":"Kotzot","year":"2004","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib39","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1007\/s00431-006-0396-5","article-title":"Growth parameters in maternal uniparental disomy 7 and 14","volume":"166","author":"Kotzot","year":"2007","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ejmg.2008.06.001_bib40","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1111\/j.1399-0004.1978.tb01182.x","article-title":"Phenotypic and genetic analysis of the Silver\u2013Russell syndrome","volume":"13","author":"Escobar","year":"1978","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib41","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1007\/BF01958638","article-title":"Growth and symptoms in Silver\u2013Russell syndrome: review on the basis of 386 patients","volume":"154","author":"Wollmann","year":"1995","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ejmg.2008.06.001_bib42","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1136\/jmg.36.11.837","article-title":"The spectrum of Silver\u2013Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria","volume":"36","author":"Price","year":"1999","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib43","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1086\/502981","article-title":"Hypomethylation of the H19 gene causes not only Silver\u2013Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype","volume":"78","author":"Bliek","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.06.001_bib44","doi-asserted-by":"crossref","DOI":"10.1210\/jc.2007-1897","article-title":"The endocrine phenotype in Silver\u2013Russell syndrome is defined by the underlying epigenetic alteration","author":"Binder","year":"2008","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ejmg.2008.06.001_bib45","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1136\/adc.71.6.490","article-title":"Cognitive abilities associated with Silver\u2013Russell syndrome","volume":"71","author":"Lai","year":"1994","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ejmg.2008.06.001_bib46","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1086\/508902","article-title":"Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia","volume":"79","author":"Feuk","year":"2006","journal-title":"Am. J. Hum. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721208000748?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721208000748?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:36:13Z","timestamp":1761708973000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721208000748"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9]]},"references-count":46,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2008,9]]}},"alternative-id":["S1769721208000748"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2008.06.001","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2008,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Maternal uniparental disomy 7 and Silver\u2013Russell syndrome \u2013 Clinical update and comparison with other subgroups","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2008.06.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}