{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:15:32Z","timestamp":1790864132142,"version":"4.1.0"},"reference-count":37,"publisher":"The Endocrine Society","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009,2,1]]},"DOI":"10.1210\/jc.2008-1805","type":"journal-article","created":{"date-parts":[[2008,11,19]],"date-time":"2008-11-19T03:48:33Z","timestamp":1227066513000},"page":"579-587","source":"Crossref","is-referenced-by-count":79,"title":["Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree of<i>H19<\/i>Hypomethylation Associates with Phenotype Severity and Genital and Skeletal Anomalies"],"prefix":"10.1210","volume":"94","author":[{"given":"Sara","family":"Bruce","sequence":"first","affiliation":[{"name":"Department of Biosciences and Nutrition (S.B., J.K.), Karolinska Institutet, S-141 57 Huddinge, Sweden"},{"name":"Department of Medical Genetics (S.B., K.H.-J., J.K.), University of Helinski, 00014 Helinski, Finland"},{"name":"Folkha\u0308lsan Institute of Genetics (S.B., K.H.-J., J.K.), Biomedicum Helinski, 00014 Helinski, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katariina","family":"Hannula-Jouppi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics (S.B., K.H.-J., J.K.), University of Helinski, 00014 Helinski, Finland"},{"name":"Folkha\u0308lsan Institute of Genetics (S.B., K.H.-J., J.K.), Biomedicum Helinski, 00014 Helinski, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jari","family":"Peltonen","sequence":"additional","affiliation":[{"name":"Hospital for Children and Adolescents (J.P., M.L.-N.), University of Helinski, 00029 Helinski, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juha","family":"Kere","sequence":"additional","affiliation":[{"name":"Department of Biosciences and Nutrition (S.B., J.K.), Karolinska Institutet, S-141 57 Huddinge, Sweden"},{"name":"Department of Medical Genetics (S.B., K.H.-J., J.K.), University of Helinski, 00014 Helinski, Finland"},{"name":"Folkha\u0308lsan Institute of Genetics (S.B., K.H.-J., J.K.), Biomedicum Helinski, 00014 Helinski, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marita","family":"Lipsanen-Nyman","sequence":"additional","affiliation":[{"name":"Hospital for Children and Adolescents (J.P., M.L.-N.), University of Helinski, 00029 Helinski, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041113581738900_R1","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1542\/peds.12.4.368","article-title":"Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.","volume":"12","author":"Silver","year":"1953","journal-title":"Pediatrics"},{"key":"key\n\t\t\t\t2019041113581738900_R2","first-page":"1040","article-title":"A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples).","volume":"47","author":"Russell","year":"1954","journal-title":"Proc R Soc Med"},{"key":"key\n\t\t\t\t2019041113581738900_R3","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1007\/BF01958638","article-title":"Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients.","volume":"154","author":"Wollmann","year":"1995","journal-title":"Eur J Pediatr"},{"key":"key\n\t\t\t\t2019041113581738900_R4","first-page":"837","article-title":"The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.","volume":"36","author":"Price","year":"1999","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t2019041113581738900_R5","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1001\/archpedi.1977.02120170073015","article-title":"The Silver-Russell syndrome: a case with sexual ambiguity, and a review of literature.","volume":"131","author":"Marks","year":"1977","journal-title":"Am J Dis Child"},{"key":"key\n\t\t\t\t2019041113581738900_R6","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-Russell syndrome.","volume":"13","author":"Escobar","year":"1978","journal-title":"Clin Genet"},{"key":"key\n\t\t\t\t2019041113581738900_R7","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/S0022-3476(85)80402-9","article-title":"Reevaluation of Russell-Silver syndrome.","volume":"107","author":"Saal","year":"1985","journal-title":"J Pediatr"},{"key":"key\n\t\t\t\t2019041113581738900_R8","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1111\/j.1651-2227.1999.tb14402.x","article-title":"The search for the gene for Silver-Russell syndrome.","volume":"88","author":"Moore","year":"1999","journal-title":"Acta Paediatr Suppl"},{"key":"key\n\t\t\t\t2019041113581738900_R9","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/2464","article-title":"Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest.","volume":"20","author":"Lefebvre","year":"1998","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113581738900_R10","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1126\/science.284.5412.330","article-title":"Regulation of maternal behavior and offspring growth by paternally expressed Peg3.","volume":"284","author":"Li","year":"1999","journal-title":"Science"},{"key":"key\n\t\t\t\t2019041113581738900_R11","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1038\/nature00819","article-title":"Placental-specific IGF-II is a major modulator of placental and fetal growth.","volume":"417","author":"Constancia","year":"2002","journal-title":"Nature"},{"key":"key\n\t\t\t\t2019041113581738900_R12","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-Russell syndrome.","volume":"37","author":"Gicquel","year":"2005","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113581738900_R13","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1136\/jmg.2005.038687","article-title":"Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain.","volume":"43","author":"Eggermann","year":"2006","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t2019041113581738900_R14","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1086\/502981","article-title":"Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.","volume":"78","author":"Bliek","year":"2006","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041113581738900_R15","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1016\/j.ejmg.2006.03.001","article-title":"(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?","volume":"49","author":"Schonherr","year":"2006","journal-title":"Eur J Med Genet"},{"key":"key\n\t\t\t\t2019041113581738900_R16","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-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.","volume":"92","author":"Netchine","year":"2007","journal-title":"J Clin Endocrinol Metab [Erratum (2007) 92:4305]"},{"key":"key\n\t\t\t\t2019041113581738900_R17","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1007\/s00109-008-0377-4","article-title":"Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2\u2013H19 domain in bodies and placentas.","volume":"86","author":"Yamazawa","year":"2008","journal-title":"J Mol Med"},{"key":"key\n\t\t\t\t2019041113581738900_R18","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1210\/jc.2007-1897","article-title":"The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration.","volume":"93","author":"Binder","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113581738900_R19","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-Russell phenotype?","volume":"38","author":"Hannula","year":"2001","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t2019041113581738900_R20","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s004310050064","article-title":"Maternal uniparental disomy 7\u2014review and further delineation of the phenotype.","volume":"159","author":"Kotzot","year":"2000","journal-title":"Eur J Pediatr"},{"key":"key\n\t\t\t\t2019041113581738900_R21","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1038\/sj.ejhg.5201463","article-title":"Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.","volume":"13","author":"Cooper","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t2019041113581738900_R22","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":"key\n\t\t\t\t2019041113581738900_R23","doi-asserted-by":"crossref","first-page":"e26","DOI":"10.1136\/jmg.2004.028936","article-title":"Is maternal duplication of 11p15 associated with Silver-Russell syndrome?","volume":"42","author":"Eggermann","year":"2005","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t2019041113581738900_R24","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1136\/jmg.2006.044370","article-title":"The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.","volume":"44","author":"Schonherr","year":"2007","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t2019041113581738900_R25","doi-asserted-by":"crossref","first-page":"4709","DOI":"10.1210\/jc.2006-1127","article-title":"IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus.","volume":"91","author":"Binder","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113581738900_R26","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1542\/peds.109.3.441","article-title":"Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause.","volume":"109","author":"Hannula","year":"2002","journal-title":"Pediatrics"},{"key":"key\n\t\t\t\t2019041113581738900_R27","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1373\/clinchem.2007.098491","article-title":"Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR.","volume":"54","author":"Bruce","year":"2008","journal-title":"Clin Chem"},{"key":"key\n\t\t\t\t2019041113581738900_R28","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1159\/000472425","article-title":"Increased parental ages and uniparental disomy 15: a paternal age effect?","volume":"1","author":"Robinson","year":"1993","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t2019041113581738900_R29","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1097\/01241398-200409000-00017","article-title":"Musculoskeletal manifestations of Russell-Silver syndrome.","volume":"24","author":"Abraham","year":"2004","journal-title":"J Pediatr Orthop"},{"key":"key\n\t\t\t\t2019041113581738900_R30","volume-title":"Hand anomalies in Russell Silver syndrome","author":"Lahiri","year":"2007"},{"key":"key\n\t\t\t\t2019041113581738900_R31","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":"DeChiara","year":"1991","journal-title":"Cell"},{"key":"key\n\t\t\t\t2019041113581738900_R32","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1750-1172-2-13","article-title":"Mayer-Rokitansky-Ku\u0308ster-Hauser (MRKH) syndrome","volume":"2","author":"Morcel","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"key\n\t\t\t\t2019041113581738900_R33","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1093\/humrep\/dei381","article-title":"Clinical aspects of Mayer-Rokitansky-Ku\u0308ster-Hauser syndrome: recommendations for clinical diagnosis and staging.","volume":"21","author":"Oppelt","year":"2006","journal-title":"Hum Reprod"},{"key":"key\n\t\t\t\t2019041113581738900_R34","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/s004040100172","article-title":"Silver-Russell syndrome associated to Mayer-Rokitansky-Ku\u0308ster-Hauser syndrome, diabetes and hirsutism.","volume":"265","author":"Bellver-Pradas","year":"2001","journal-title":"Arch Gynecol Obstet"},{"key":"key\n\t\t\t\t2019041113581738900_R35","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1016\/j.fertnstert.2004.06.077","article-title":"Mayer-Rokitansky-Ku\u0308ster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome.","volume":"83","author":"Griesinger","year":"2005","journal-title":"Fertil Steril"},{"key":"key\n\t\t\t\t2019041113581738900_R36","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1472-6874-4-4","article-title":"Congenital scoliosis associated with agenesis of the uterine cervix","volume":"4","author":"Carlomagno","year":"2004","journal-title":"Case report. BMC Womens Health"},{"key":"key\n\t\t\t\t2019041113581738900_R37","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1093\/humrep\/deh198","article-title":"Mayer-von Rokitansky-Ku\u0308ster-Hauser syndrome in association with a hitherto undescribed variant of the Holt-Oram syndrome with an aorto-pulmonary window.","volume":"19","author":"Ulrich","year":"2004","journal-title":"Hum Reprod"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/94\/2\/579\/9059694\/jcem0579.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,21]],"date-time":"2023-05-21T04:15:24Z","timestamp":1684642524000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/94\/2\/579\/2598418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,1]]},"references-count":37,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,2,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2008-1805","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,1]]}}}