{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:41:38Z","timestamp":1792644098452,"version":"4.5.0"},"reference-count":164,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2016,9,2]],"date-time":"2016-09-02T00:00:00Z","timestamp":1472774400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Rev Endocrinol"],"published-print":{"date-parts":[[2017,2]]},"DOI":"10.1038\/nrendo.2016.138","type":"journal-article","created":{"date-parts":[[2016,9,2]],"date-time":"2016-09-02T11:08:48Z","timestamp":1472814528000},"page":"105-124","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":450,"title":["Diagnosis and management of Silver\u2013Russell syndrome: first international consensus statement"],"prefix":"10.1038","volume":"13","author":[{"given":"Emma L.","family":"Wakeling","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Brioude","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oluwakemi","family":"Lokulo-Sodipe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"O'Connell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Salem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jet","family":"Bliek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana P. M.","family":"Canton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystyna H.","family":"Chrzanowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin H.","family":"Davies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renuka P.","family":"Dias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9atrice","family":"Dubern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Elbracht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eloise","family":"Giabicani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adda","family":"Grimberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Gr\u00f8nskov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita C. S.","family":"Hokken-Koelega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander A.","family":"Jorge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayo","family":"Kagami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnes","family":"Linglart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad","family":"Maghnie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Mohnike","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Monk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun E.","family":"Moore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip G.","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle Oliver","family":"Petit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edith","family":"Said","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meropi","family":"Toumba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerhard","family":"Binder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine D.","family":"Harbison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. Karen","family":"Temple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah J. G.","family":"Mackay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ir\u00e8ne","family":"Netchine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,9,2]]},"reference":[{"key":"BFnrendo2016138_CR1","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1542\/peds.12.4.368","volume":"12","author":"HK Silver","year":"1953","unstructured":"Silver, H. K., Kiyasu, W., George, J. & Dearner, W. C. Syndrome of congenital hemihypertrophy, shortening of stature and elevated urinary gonadotropins. Pediatrics 12, 368\u2013373 (1953).","journal-title":"Pediatrics"},{"key":"BFnrendo2016138_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. 47, 1040\u20131044 (1954).","journal-title":"Proc. R. Soc. Med."},{"key":"BFnrendo2016138_CR3","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1007\/BF01958638","volume":"154","author":"HA Wollmann","year":"1995","unstructured":"Wollmann, H. A., Kirchner, T., Enders, H., Preece, M. A. & Ranke, M. B. Growth and symptoms in Silver\u2013Russell syndrome: review on the basis of 386 patients. Eur. J. Pediatr. 154, 958\u2013968 (1995).","journal-title":"Eur. J. Pediatr."},{"key":"BFnrendo2016138_CR4","doi-asserted-by":"publisher","first-page":"3148","DOI":"10.1210\/jc.2007-0354","volume":"92","author":"I Netchine","year":"2007","unstructured":"Netchine, I. et al. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell\u2013Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J. Clin. Endocrinol. Metab. 92, 3148\u20133154 (2007).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR5","first-page":"837","volume":"36","author":"SM Price","year":"1999","unstructured":"Price, S. M., Stanhope, R., Garrett, C., Preece, M. A. & Trembath, R. C. The spectrum of Silver\u2013Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J. Med. Genet. 36, 837\u2013842 (1999).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR6","doi-asserted-by":"publisher","first-page":"1156","DOI":"10.1136\/adc.2010.190165","volume":"96","author":"EL Wakeling","year":"2011","unstructured":"Wakeling, E. L. Silver\u2013Russell syndrome. Arch. Dis. Child 96, 1156\u20131161 (2011).","journal-title":"Arch. Dis. Child"},{"key":"BFnrendo2016138_CR7","volume-title":"Orphanet","author":"A Toutain","year":"2007","unstructured":"Toutain, A. Silver\u2013Russell syndrome. Orphanet http:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&data_id=584&Disease_Disease_Search_diseaseGroup=Silver-Russell-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)\/group%20of%20diseases=Silver-Russell-syndrome&title=Silver-Russell-syndrome&search=Disease_Search_Simple (2007)."},{"issue":"Suppl. 1","key":"BFnrendo2016138_CR8","first-page":"325","volume":"23","author":"M Yakoreva","year":"2015","unstructured":"Yakoreva, M. et al. A retrospective analysis of the prevalence of imprinting disorders in Estonia. Eur. J. Hum. Genet. 23 (Suppl. 1), 325 (2015).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFnrendo2016138_CR9","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.1038\/ng1629","volume":"37","author":"C Gicquel","year":"2005","unstructured":"Gicquel, C. et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver\u2013Russell syndrome. Nat. Genet. 37, 1003\u20131007 (2005).","journal-title":"Nat. Genet."},{"key":"BFnrendo2016138_CR10","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1016\/j.ejmg.2006.03.001","volume":"49","author":"N Sch\u00f6nherr","year":"2006","unstructured":"Sch\u00f6nherr, N. et al. (Epi)mutations in 11p15 significantly contribute to Silver\u2013Russell syndrome: but are they generally involved in growth retardation? Eur. J. Med. Genet. 49, 414\u2013418 (2006).","journal-title":"Eur. J. Med. Genet."},{"key":"BFnrendo2016138_CR11","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1080\/13611260500069947","volume":"27","author":"MR de Villiers","year":"2005","unstructured":"de Villiers, M. R., de Villiers, P. J. & Kent, A. P. The Delphi technique in health sciences education research. Med. Teach 27, 639\u2013643 (2005).","journal-title":"Med. Teach"},{"key":"BFnrendo2016138_CR12","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1136\/adc.71.6.490","volume":"71","author":"KY Lai","year":"1994","unstructured":"Lai, K. Y., Skuse, D., Stanhope, R. & Hindmarsh, P. Cognitive abilities associated with the Silver\u2013Russell syndrome. Arch. Dis. Child 71, 490\u2013496 (1994).","journal-title":"Arch. Dis. Child"},{"key":"BFnrendo2016138_CR13","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1136\/jmg.2008.061820","volume":"46","author":"D Bartholdi","year":"2009","unstructured":"Bartholdi, D. et al. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver\u2013Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J. Med. Genet. 46, 192\u2013197 (2009).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR14","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1136\/jmedgenet-2013-101693","volume":"50","author":"RP Dias","year":"2013","unstructured":"Dias, R. P. et al. Comparison of the clinical scoring systems in Silver\u2013Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing. J. Med. Genet. 50, 635\u2013639 (2013).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR15","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1136\/jmedgenet-2014-102979","volume":"52","author":"S Azzi","year":"2015","unstructured":"Azzi, S. et al. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver\u2013Russell syndrome. J. Med. Genet. 52, 446\u2013453 (2015).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR16","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1210\/jc.2008-1805","volume":"94","author":"S Bruce","year":"2009","unstructured":"Bruce, S., Hannula-Jouppi, K., Peltonen, J., Kere, J. & Lipsanen-Nyman, M. Clinically distinct epigenetic subgroups in Silver\u2013Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies. J. Clin. Endocrinol. Metab. 94, 579\u2013587 (2009).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR17","doi-asserted-by":"publisher","first-page":"e60105","DOI":"10.1371\/journal.pone.0060105","volume":"8","author":"T Fuke","year":"2013","unstructured":"Fuke, T. et al. Molecular and clinical studies in 138 Japanese patients with Silver\u2013Russell syndrome. PLoS ONE 8, e60105 (2013).","journal-title":"PLoS ONE"},{"key":"BFnrendo2016138_CR18","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1086\/502981","volume":"78","author":"J Bliek","year":"2006","unstructured":"Bliek, J. 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. 78, 604\u2013614 (2006).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrendo2016138_CR19","doi-asserted-by":"publisher","first-page":"e929","DOI":"10.1542\/peds.2008-3228","volume":"123","author":"T Eggermann","year":"2009","unstructured":"Eggermann, T. et al. Broad clinical spectrum in Silver\u2013Russell syndrome and consequences for genetic testing in growth retardation. Pediatrics 123, e929\u2013e931 (2009).","journal-title":"Pediatrics"},{"key":"BFnrendo2016138_CR20","doi-asserted-by":"publisher","first-page":"760","DOI":"10.1136\/jmg.2010.079111","volume":"47","author":"EL Wakeling","year":"2010","unstructured":"Wakeling, E. L. et al. Epigenotype\u2013phenotype correlations in Silver\u2013Russell syndrome. J. Med. Genet. 47, 760\u2013768 (2010).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR21","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1186\/s13148-016-0183-8","volume":"8","author":"S Russo","year":"2016","unstructured":"Russo, S. et al. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver\u2013Russell and Beckwith\u2013Wiedemann syndromes. Clin. Epigenetics 8, 23 (2016).","journal-title":"Clin. Epigenetics"},{"key":"BFnrendo2016138_CR22","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1542\/peds.109.3.441","volume":"109","author":"K Hannula","year":"2002","unstructured":"Hannula, K. et al. Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause. Pediatrics 109, 441\u2013448 (2002).","journal-title":"Pediatrics"},{"key":"BFnrendo2016138_CR23","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1038\/sj.ejhg.5201974","volume":"16","author":"M Zeschnigk","year":"2008","unstructured":"Zeschnigk, M. et al. IGF2\/H19 hypomethylation in Silver\u2013Russell syndrome and isolated hemihypoplasia. Eur. J. Hum. Genet. 16, 328\u2013334 (2008).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFnrendo2016138_CR24","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1111\/j.1399-0004.2011.01822.x","volume":"81","author":"J Demars","year":"2012","unstructured":"Demars, J. & Gicquel, C. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith\u2013Wiedemann and Silver\u2013Russell syndromes. Clin. Genet. 81, 350\u2013361 (2012).","journal-title":"Clin. Genet."},{"key":"BFnrendo2016138_CR25","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1586\/erm.12.43","volume":"12","author":"T Eggermann","year":"2012","unstructured":"Eggermann, T., Spengler, S., Gogiel, M., Begemann, M. & Elbracht, M. Epigenetic and genetic diagnosis of Silver\u2013Russell syndrome. Expert Rev. Mol. Diagn. 12, 459\u2013471 (2012).","journal-title":"Expert Rev. Mol. Diagn."},{"key":"BFnrendo2016138_CR26","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1136\/jmedgenet-2012-100967","volume":"49","author":"M Begemann","year":"2012","unstructured":"Begemann, M. et al. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. J. Med. Genet. 49, 547\u2013553 (2012).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR27","doi-asserted-by":"publisher","unstructured":"Eggermann, K. et al. EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver\u2013Russell and Beckwith\u2013Wiedemann syndrome. Eur. J. Hum. Genet. http:\/\/dx.doi.org\/10.1038\/ejhg.2016.45 (2016).","DOI":"10.1038\/ejhg.2016.45"},{"key":"BFnrendo2016138_CR28","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1038\/ejhg.2008.197","volume":"17","author":"M Alders","year":"2009","unstructured":"Alders, M., Bliek, J., vd Lip, K., vd Bogaard, R. & Mannens, M. Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis. Eur. J. Hum. Genet. 17, 467\u2013473 (2009).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFnrendo2016138_CR29","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1002\/humu.21403","volume":"32","author":"S Azzi","year":"2011","unstructured":"Azzi, S. et al. Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes. Hum. Mutat. 32, 249\u2013258 (2011).","journal-title":"Hum. Mutat."},{"key":"BFnrendo2016138_CR30","doi-asserted-by":"publisher","first-page":"473","DOI":"10.4161\/epi.19719","volume":"7","author":"M Begemann","year":"2012","unstructured":"Begemann, M. et al. Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci. Epigenetics 7, 473\u2013481 (2012).","journal-title":"Epigenetics"},{"key":"BFnrendo2016138_CR31","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1111\/j.1399-0004.2007.00930.x","volume":"73","author":"T Eggermann","year":"2008","unstructured":"Eggermann, T. et al. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver\u2013Russell syndrome. Clin. Genet. 73, 79\u201384 (2008).","journal-title":"Clin. Genet."},{"key":"BFnrendo2016138_CR32","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1136\/jmg.2007.053207","volume":"45","author":"RH Scott","year":"2008","unstructured":"Scott, R. H. et al. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation. J. Med. Genet. 45, 106\u2013113 (2008).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR33","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.1002\/humu.22623","volume":"35","author":"S Azzi","year":"2014","unstructured":"Azzi, S. et al. Complex tissue-specific epigenotypes in Russell\u2013Silver syndrome associated with 11p15 ICR1 hypomethylation. Hum. Mutat. 35, 1211\u20131220 (2014).","journal-title":"Hum. Mutat."},{"key":"BFnrendo2016138_CR34","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1111\/j.1399-0004.2010.01514.x","volume":"80","author":"M Begemann","year":"2011","unstructured":"Begemann, M. et al. Silver\u2013Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues. Clin. Genet. 80, 83\u201388 (2011).","journal-title":"Clin. Genet."},{"key":"BFnrendo2016138_CR35","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1093\/hmg\/4.4.583","volume":"4","author":"D Kotzot","year":"1995","unstructured":"Kotzot, D. et al. Uniparental disomy 7 in Silver\u2013Russell syndrome and primordial growth retardation. Hum. Mol. Genet. 4, 583\u2013587 (1995).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrendo2016138_CR36","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1136\/jmg.34.1.6","volume":"34","author":"MA Preece","year":"1997","unstructured":"Preece, M. A. et al. Maternal uniparental disomy 7 in Silver\u2013Russell syndrome. J. Med. Genet. 34, 6\u20139 (1997).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR37","first-page":"457","volume":"36","author":"MA Preece","year":"1999","unstructured":"Preece, M. A. et al. An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver\u2013Russell syndrome probands. J. Med. Genet. 36, 457\u2013460 (1999).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR38","first-page":"217","volume":"42","author":"JE Spence","year":"1988","unstructured":"Spence, J. E. et al. Uniparental disomy as a mechanism for human genetic disease. Am. J. Hum. Genet. 42, 217\u2013226 (1988).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrendo2016138_CR39","first-page":"373","volume":"45","author":"R Voss","year":"1989","unstructured":"Voss, R. et al. Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am. J. Hum. Genet. 45, 373\u2013380 (1989).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrendo2016138_CR40","doi-asserted-by":"publisher","first-page":"7111","DOI":"10.1186\/1757-1626-2-7111","volume":"2","author":"C Bulli","year":"2009","unstructured":"Bulli, C. et al. Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report. Cases J. 2, 7111 (2009).","journal-title":"Cases J."},{"key":"BFnrendo2016138_CR41","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1007\/s00439-002-0777-4","volume":"111","author":"D Monk","year":"2002","unstructured":"Monk, D. et al. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Hum. Genet. 111, 376\u2013387 (2002).","journal-title":"Hum. Genet."},{"key":"BFnrendo2016138_CR42","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1007\/s004390051101","volume":"105","author":"CA Joyce","year":"1999","unstructured":"Joyce, C. A., Sharp, A., Walker, J. M., Bullman, H. & Temple, I. K. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver\u2013Russell syndrome. Hum. Genet. 105, 273\u2013280 (1999).","journal-title":"Hum. Genet."},{"key":"BFnrendo2016138_CR43","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1086\/302717","volume":"66","author":"D Monk","year":"2000","unstructured":"Monk, D. et al. Duplication of 7p11.2-p13, including GRB10, in Silver\u2013Russell syndrome. Am. J. Hum. Genet. 66, 36\u201346 (2000).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrendo2016138_CR44","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1086\/316937","volume":"68","author":"K Hannula","year":"2001","unstructured":"Hannula, K., Lipsanen-Nyman, M., Kontiokari, T. & Kere, J. A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver\u2013Russell syndrome delimits a candidate gene region. Am. J. Hum. Genet. 68, 247\u2013253 (2001).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrendo2016138_CR45","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1111\/j.1399-0004.2006.00664.x","volume":"70","author":"MP Reboul","year":"2006","unstructured":"Reboul, M. P. et al. Mosaic maternal uniparental isodisomy for chromosome 7q21-qter. Clin. Genet. 70, 207\u2013213 (2006).","journal-title":"Clin. Genet."},{"key":"BFnrendo2016138_CR46","doi-asserted-by":"crossref","unstructured":"Leach, N. T., Chudoba, I., Stewart, T. V., Holmes, L. B. & Weremowicz, S. Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver\u2013Russell syndrome. Am. J. Med. Genet. A143A, 1489\u20131493 (2007).","DOI":"10.1002\/ajmg.a.31794"},{"key":"BFnrendo2016138_CR47","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1111\/j.1399-0004.2008.01057.x","volume":"74","author":"T Eggermann","year":"2008","unstructured":"Eggermann, T. et al. Segmental maternal UPD(7q) in Silver\u2013Russell syndrome. Clin. Genet. 74, 486\u2013489 (2008).","journal-title":"Clin. Genet."},{"key":"BFnrendo2016138_CR48","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1111\/j.1399-0004.2011.01719.x","volume":"81","author":"T Eggermann","year":"2012","unstructured":"Eggermann, T. et al. Deletion of the paternal allele of the imprinted MEST\/PEG1 region in a patient with Silver\u2013Russell syndrome features. Clin. Genet. 81, 298\u2013300 (2012).","journal-title":"Clin. Genet."},{"key":"BFnrendo2016138_CR49","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1089\/gtmb.2009.0018","volume":"13","author":"M Hattori","year":"2009","unstructured":"Hattori, M. et al. Diagnosis of Russell\u2013Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay. Genet. Test. Mol. Biomarkers 13, 623\u2013630 (2009).","journal-title":"Genet. Test. Mol. Biomarkers"},{"key":"BFnrendo2016138_CR50","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.beem.2010.09.004","volume":"25","author":"K Hoffmann","year":"2011","unstructured":"Hoffmann, K. & Heller, R. Uniparental disomies 7 and 14. Best Pract. Res. Clin. Endocrinol. Metab. 25, 77\u2013100 (2011).","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR51","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1530\/EJE-14-0232","volume":"171","author":"AP Canton","year":"2014","unstructured":"Canton, A. P. et al. Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways. Eur. J. Endocrinol. 171, 253\u2013262 (2014).","journal-title":"Eur. J. Endocrinol."},{"key":"BFnrendo2016138_CR52","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1136\/jmg.2009.069427","volume":"47","author":"S Bruce","year":"2010","unstructured":"Bruce, S. et al. Submicroscopic genomic alterations in Silver\u2013Russell syndrome and Silver\u2013Russell-like patients. J. Med. Genet. 47, 816\u2013822 (2010).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR53","doi-asserted-by":"crossref","unstructured":"Fokstuen, S. & Kotzot, D. Chromosomal rearrangements in patients with clinical features of Silver\u2013Russell syndrome. Am. J. Med. Genet. A164A, 1595\u20131605 (2014).","DOI":"10.1002\/ajmg.a.36464"},{"key":"BFnrendo2016138_CR54","doi-asserted-by":"publisher","first-page":"546","DOI":"10.1016\/j.ejmg.2013.06.005","volume":"56","author":"B Keren","year":"2013","unstructured":"Keren, B. et al. SNP arrays in Beckwith\u2013Wiedemann syndrome: an improved diagnostic strategy. Eur. J. Med. Genet. 56, 546\u2013550 (2013).","journal-title":"Eur. J. Med. Genet."},{"key":"BFnrendo2016138_CR55","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1136\/jmedgenet-2014-102396","volume":"51","author":"Y Ioannides","year":"2014","unstructured":"Ioannides, Y., Lokulo-Sodipe, K., Mackay, D. J., Davies, J. H. & Temple, I. K. Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. J. Med. Genet. 51, 495\u2013501 (2014).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR56","doi-asserted-by":"publisher","first-page":"1062","DOI":"10.1038\/ejhg.2014.234","volume":"23","author":"M Kagami","year":"2015","unstructured":"Kagami, M. et al. Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver\u2013Russell syndrome-compatible phenotype. Eur. J. Hum. Genet. 23, 1062\u20131067 (2015).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFnrendo2016138_CR57","doi-asserted-by":"crossref","unstructured":"Poole, R. L. et al. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Am. J. Med. Genet. A161A, 2174\u20132182 (2013).","DOI":"10.1002\/ajmg.a.36049"},{"key":"BFnrendo2016138_CR58","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1136\/jmg.38.2.86","volume":"38","author":"T Eggermann","year":"2001","unstructured":"Eggermann, T. et al. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients. J. Med. Genet. 38, 86\u201389 (2001).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR59","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1038\/gim.2015.103","volume":"18","author":"S Mulchandani","year":"2016","unstructured":"Mulchandani, S. et al. Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. Genet. Med. 18, 309\u2013315 (2016).","journal-title":"Genet. Med."},{"key":"BFnrendo2016138_CR60","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1136\/jmedgenet-2013-101691","volume":"50","author":"F Brioude","year":"2013","unstructured":"Brioude, F. et al. CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. J. Med. Genet. 50, 823\u2013830 (2013).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR61","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1056\/NEJMoa1415227","volume":"373","author":"M Begemann","year":"2015","unstructured":"Begemann, M. et al. Paternally inherited IGF2 mutation and growth restriction. N. Engl. J. Med. 373, 349\u2013356 (2015).","journal-title":"N. Engl. J. Med."},{"key":"BFnrendo2016138_CR62","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1016\/j.ymgme.2004.04.008","volume":"82","author":"C Obermann","year":"2004","unstructured":"Obermann, C. et al. Searching for genomic variants in IGF2 and CDKN1C in Silver\u2013Russell syndrome patients. Mol. Genet. Metab. 82, 246\u2013250 (2004).","journal-title":"Mol. Genet. Metab."},{"key":"BFnrendo2016138_CR63","doi-asserted-by":"crossref","unstructured":"Muller, A., Soellner, L., Binder, G., Begemann, M. & Eggermann, T. No major contribution of IGF2 variants to the etiology of sporadic 11p15-associated imprinting disorders. Am. J. Med. Genet. A170A, 283\u2013284 (2016).","DOI":"10.1002\/ajmg.a.37416"},{"key":"BFnrendo2016138_CR64","doi-asserted-by":"publisher","first-page":"4724","DOI":"10.1093\/hmg\/ddp435","volume":"18","author":"S Azzi","year":"2009","unstructured":"Azzi, S. et al. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum. Mol. Genet. 18, 4724\u20134733 (2009).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrendo2016138_CR65","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1038\/ejhg.2009.246","volume":"18","author":"CLS Turner","year":"2010","unstructured":"Turner, C. L. S. et al. Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur. J. Hum. Genet. 18, 648\u2013655 (2010).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFnrendo2016138_CR66","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1007\/s00109-014-1141-6","volume":"92","author":"T Eggermann","year":"2014","unstructured":"Eggermann, T. et al. Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing. J. Mol. Med. (Berl.) 92, 769\u2013777 (2014).","journal-title":"J. Mol. Med. (Berl.)"},{"key":"BFnrendo2016138_CR67","first-page":"595","volume":"34","author":"F Court","year":"2013","unstructured":"Court, F. et al. Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. Hum. Mutat. 34, 595\u2013602 (2013).","journal-title":"Hum. Mutat."},{"key":"BFnrendo2016138_CR68","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1007\/s00439-014-1526-1","volume":"134","author":"AR Prickett","year":"2015","unstructured":"Prickett, A. R. et al. Genome-wide methylation analysis in Silver\u2013Russell syndrome patients. Hum. Genet. 134, 317\u2013332 (2015).","journal-title":"Hum. Genet."},{"key":"BFnrendo2016138_CR69","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1136\/jmedgenet-2013-102116","volume":"51","author":"LE Docherty","year":"2014","unstructured":"Docherty, L. E. et al. Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes. J. Med. Genet. 51, 229\u2013238 (2014).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2016138_CR70","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1186\/s13148-015-0081-5","volume":"7","author":"FI Rezwan","year":"2015","unstructured":"Rezwan, F. I. et al. A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders. Clin. Epigenetics 7, 48 (2015).","journal-title":"Clin. Epigenetics"},{"key":"BFnrendo2016138_CR71","doi-asserted-by":"publisher","first-page":"8086","DOI":"10.1038\/ncomms9086","volume":"6","author":"LE Docherty","year":"2015","unstructured":"Docherty, L. E. et al. Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans. Nat. Commun. 6, 8086 (2015).","journal-title":"Nat. Commun."},{"key":"BFnrendo2016138_CR72","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1101\/gr.164913.113","volume":"24","author":"F Court","year":"2014","unstructured":"Court, F. et al. Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Genome Res. 24, 554\u2013569 (2014).","journal-title":"Genome Res."},{"key":"BFnrendo2016138_CR73","doi-asserted-by":"publisher","first-page":"1402","DOI":"10.1210\/jc.2007-1897","volume":"93","author":"G Binder","year":"2008","unstructured":"Binder, G. et al. The endocrine phenotype in Silver\u2013Russell syndrome is defined by the underlying epigenetic alteration. J. Clin. Endocrinol. Metab. 93, 1402\u20131407 (2008).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR74","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1038\/jhg.2014.100","volume":"60","author":"S Nakashima","year":"2015","unstructured":"Nakashima, S. et al. Silver\u2013Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C. J. Hum. Genet. 60, 91\u201395 (2015).","journal-title":"J. Hum. Genet."},{"key":"BFnrendo2016138_CR75","doi-asserted-by":"crossref","unstructured":"Hall, J. G. Review and hypothesis: syndromes with severe intrauterine growth restriction and very short stature\u2014are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease? Am. J. Med. Genet. A152A, 512\u2013527 (2010).","DOI":"10.1002\/ajmg.a.33251"},{"key":"BFnrendo2016138_CR76","doi-asserted-by":"crossref","unstructured":"Akawi, N. A., Ali, B. R., Hamamy, H., Al-Hadidy, A. & Al-Gazali, L. Is autosomal recessive Silver\u2013Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? Am. J. Med. Genet. A155A, 1236\u20131245 (2011).","DOI":"10.1002\/ajmg.a.34009"},{"key":"BFnrendo2016138_CR77","doi-asserted-by":"publisher","first-page":"3932","DOI":"10.1210\/jc.2013-2491","volume":"98","author":"JS Renes","year":"2013","unstructured":"Renes, J. S., Willemsen, R. H., Wagner, A., Finken, M. J. & Hokken-Koelega, A. C. Bloom syndrome in short children born small for gestational age: a challenging diagnosis. J. Clin. Endocrinol. Metab. 98, 3932\u20133938 (2013).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR78","doi-asserted-by":"publisher","first-page":"786","DOI":"10.1111\/j.1651-2227.1994.tb13142.x","volume":"83","author":"CF Verge","year":"1994","unstructured":"Verge, C. F., Donaghue, K. C., Williams, P. F., Cowell, C. T. & Silink, M. Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome. Acta Paediatr. 83, 786\u2013788 (1994).","journal-title":"Acta Paediatr."},{"key":"BFnrendo2016138_CR79","doi-asserted-by":"crossref","unstructured":"Parker, M. J. et al. Type 1 collagenopathy presenting with a Russell\u2013Silver phenotype. Am. J. Med. Genet. A155A, 1414\u20131418 (2011).","DOI":"10.1002\/ajmg.a.33998"},{"key":"BFnrendo2016138_CR80","doi-asserted-by":"crossref","unstructured":"Cianci, P. et al. Collagenopathy with a phenotype resembling silver\u2013russell syndrome phenotype. Am. J. Med. Genet. A161A, 2681\u20132684 (2013).","DOI":"10.1002\/ajmg.a.36093"},{"key":"BFnrendo2016138_CR81","first-page":"447","volume":"72","author":"TA Vu-Hong","year":"2009","unstructured":"Vu-Hong, T. A. et al. Russell\u2013Silver syndrome with 11p15 epimutation: analysis of growth, bone maturation, puberty and response to GH treatment on a large series of 101 patients. Horm. Res. 72, 447\u2013448 (2009).","journal-title":"Horm. Res."},{"key":"BFnrendo2016138_CR82","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1136\/archdischild-2013-305864","volume":"100","author":"C Marsaud","year":"2015","unstructured":"Marsaud, C., Rossignol, S., Tounian, P., Netchine, I. & Dubern, B. Prevalence and management of gastrointestinal manifestations in Silver\u2013Russell syndrome. Arch. Dis. Child 100, 353\u2013358 (2015).","journal-title":"Arch. Dis. Child"},{"key":"BFnrendo2016138_CR83","doi-asserted-by":"publisher","first-page":"155","DOI":"10.2223\/JPED.2174","volume":"88","author":"M Epifanio","year":"2012","unstructured":"Epifanio, M. et al. A randomized, double-blind, placebo-controlled trial of cyproheptadine for appetite stimulation in cystic fibrosis. J. Pediatr. (Rio J.) 88, 155\u2013160 (2012).","journal-title":"J. Pediatr. (Rio J.)"},{"key":"BFnrendo2016138_CR84","first-page":"CD008190","volume":"7","author":"R Chinuck","year":"2014","unstructured":"Chinuck, R., Dewar, J., Baldwin, D. R. & Hendron, E. Appetite stimulants for people with cystic fibrosis. Cochrane Database Syst. Rev. 7, CD008190 (2014).","journal-title":"Cochrane Database Syst. Rev."},{"key":"BFnrendo2016138_CR85","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1203\/01.PDR.0000169980.35179.89","volume":"58","author":"N Ezzahir","year":"2005","unstructured":"Ezzahir, N. et al. Time course of catch-up in adiposity influences adult anthropometry in individuals who were born small for gestational age. Pediatr. Res. 58, 243\u2013247 (2005).","journal-title":"Pediatr. Res."},{"key":"BFnrendo2016138_CR86","doi-asserted-by":"publisher","first-page":"2978","DOI":"10.1210\/jc.2007-2600","volume":"93","author":"R Schweizer","year":"2008","unstructured":"Schweizer, R., Martin, D. D., Schonau, E. & Ranke, M. B. Muscle function improves during growth hormone therapy in short children born small for gestational age: results of a peripheral quantitative computed tomography study on body composition. J. Clin. Endocrinol. Metab. 93, 2978\u20132983 (2008).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR87","doi-asserted-by":"publisher","first-page":"2105","DOI":"10.1210\/jc.2015-4273","volume":"101","author":"CC Smeets","year":"2016","unstructured":"Smeets, C. C., Zandwijken, G. R., Renes, J. S. & Hokken-Koelega, A. C. Long-term results of GH treatment in Silver\u2013Russell syndrome (SRS): do they benefit the same as non-SRS short-SGA? J. Clin. Endocrinol. Metab. 101, 2105\u20132112 (2016).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR88","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1136\/bmj.3.5826.566","volume":"3","author":"JC Waterlow","year":"1972","unstructured":"Waterlow, J. C. Classification and definition of protein-calorie malnutrition. BMJ 3, 566\u2013569 (1972).","journal-title":"BMJ"},{"key":"BFnrendo2016138_CR89","first-page":"663","volume":"18","author":"C Azcona","year":"2005","unstructured":"Azcona, C. & Stanhope, R. Hypoglycaemia and Russell\u2013Silver syndrome. J. Pediatr. Endocrinol. Metab. 18, 663\u2013670 (2005).","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR90","first-page":"275","volume":"103","author":"HM Hoey","year":"2010","unstructured":"O'Connell, A. C., O'Connell, S. M., O'Mullane, E. & Hoey, H. M. Oral health of children born small for gestational age. Ir. Med. J. 103, 275\u2013278 (2010).","journal-title":"Ir. Med. J."},{"key":"BFnrendo2016138_CR91","doi-asserted-by":"publisher","first-page":"644","DOI":"10.1111\/j.1651-2227.2000.tb00357.x","volume":"89","author":"J Blissett","year":"2000","unstructured":"Blissett, J., Harris, G. & Kirk, J. Effect of growth hormone therapy on feeding problems and food intake in children with growth disorders. Acta Paediatr. 89, 644\u2013649 (2000).","journal-title":"Acta Paediatr."},{"key":"BFnrendo2016138_CR92","first-page":"23","volume":"65","author":"VH Boonstra","year":"2006","unstructured":"Boonstra, V. H. et al. Food intake of children with short stature born small for gestational age before and during a randomized GH trial. Horm. Res. 65, 23\u201330 (2006).","journal-title":"Horm. Res."},{"key":"BFnrendo2016138_CR93","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/S0952-8180(98)00131-7","volume":"11","author":"H Tomiyama","year":"1999","unstructured":"Tomiyama, H., Ibuki, T., Nakajima, Y. & Tanaka, Y. Late intraoperative hypoglycemia in a patient with Russell\u2013Silver syndrome. J. Clin. Anesth. 11, 80\u201382 (1999).","journal-title":"J. Clin. Anesth."},{"key":"BFnrendo2016138_CR94","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1590\/S0043-31442006000200014","volume":"55","author":"MD Scarlett","year":"2006","unstructured":"Scarlett, M. D. & Tha, M. W. Russell\u2013Silver syndrome: anaesthetic implications and management. West Indian Med. J. 55, 127\u2013129 (2006).","journal-title":"West Indian Med. J."},{"key":"BFnrendo2016138_CR95","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1002\/ajmg.1320560223","volume":"56","author":"J Kotilainen","year":"1995","unstructured":"Kotilainen, J. et al. Craniofacial and dental characteristics of Silver\u2013Russell syndrome. Am. J. Med. Genet. 56, 229\u2013236 (1995).","journal-title":"Am. J. Med. Genet."},{"key":"BFnrendo2016138_CR96","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1177\/0884533615622639","volume":"31","author":"NL Canada","year":"2016","unstructured":"Canada, N. L., Mullins, L., Pearo, B. & Spoede, E. Optimizing perioperative nutrition in pediatric populations. Nutr. Clin. Pract. 31, 49\u201358 (2016).","journal-title":"Nutr. Clin. Pract."},{"key":"BFnrendo2016138_CR97","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1159\/000289570","volume":"74","author":"MB Ranke","year":"2010","unstructured":"Ranke, M. B. & Lindberg, A. Height at start, first-year growth response and cause of shortness at birth are major determinants of adult height outcomes of short children born small for gestational age and Silver\u2013Russell syndrome treated with growth hormone: analysis of data from KIGS. Horm. Res. Paediatr. 74, 259\u2013266 (2010).","journal-title":"Horm. Res. Paediatr."},{"key":"BFnrendo2016138_CR98","doi-asserted-by":"publisher","first-page":"S22","DOI":"10.1016\/S0022-3476(96)70006-9","volume":"128","author":"SD Chernausek","year":"1996","unstructured":"Chernausek, S. D., Breen, T. J. & Frank, G. R. Linear growth in response to growth hormone treatment in children with short stature associated with intrauterine growth retardation: the National Cooperative Growth Study experience. J. Pediatr. 128, S22\u2013S27 (1996).","journal-title":"J. Pediatr."},{"key":"BFnrendo2016138_CR99","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1111\/j.1651-2227.1989.tb17166.x","volume":"349","author":"K Albertsson-Wikland","year":"1989","unstructured":"Albertsson-Wikland, K. Growth hormone secretion and growth hormone treatment in children with intrauterine growth retardation. Swedish Paediatric Study Group Growth Hormone Treatment. Acta Paediatr. Scand. Suppl. 349, 35\u201341 (1989).","journal-title":"Acta Paediatr. Scand. Suppl."},{"key":"BFnrendo2016138_CR100","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1530\/EJE-14-0419","volume":"171","author":"RB Jensen","year":"2014","unstructured":"Jensen, R. B. et al. A randomised controlled trial evaluating IGF1 titration in contrast to current GH dosing strategies in children born small for gestational age: the North European Small-for-Gestational-Age Study. Eur. J. Endocrinol. 171, 509\u2013518 (2014).","journal-title":"Eur. J. Endocrinol."},{"key":"BFnrendo2016138_CR101","first-page":"22","volume":"50","author":"C Azcona","year":"1998","unstructured":"Azcona, C., Albanese, A., Bareille, P. & Stanhope, R. Growth hormone treatment in growth hormone-sufficient and -insufficient children with intrauterine growth retardation\/Russell\u2013Silver syndrome. Horm. Res. 50, 22\u201327 (1998).","journal-title":"Horm. Res."},{"key":"BFnrendo2016138_CR102","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1111\/j.1651-2227.1997.tb18413.x","volume":"423","author":"K Albertsson-Wikland","year":"1997","unstructured":"Albertsson-Wikland, K. & Karlberg, J. Postnatal growth of children born small for gestational age. Acta Paediatr. Suppl. 423, 193\u2013195 (1997).","journal-title":"Acta Paediatr. Suppl."},{"key":"BFnrendo2016138_CR103","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1159\/000295924","volume":"74","author":"M Toumba","year":"2010","unstructured":"Toumba, M., Albanese, A., Azcona, C. & Stanhope, R. Effect of long-term growth hormone treatment on final height of children with Russell\u2013Silver syndrome. Horm. Res. Paediatr. 74, 212\u2013217 (2010).","journal-title":"Horm. Res. Paediatr."},{"key":"BFnrendo2016138_CR104","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1159\/000354658","volume":"80","author":"G Binder","year":"2013","unstructured":"Binder, G. et al. Adult height and epigenotype in children with Silver\u2013Russell syndrome treated with GH. Horm. Res. Paediatr. 80, 193\u2013200 (2013).","journal-title":"Horm. Res. Paediatr."},{"key":"BFnrendo2016138_CR105","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1007\/BF02282833","volume":"155","author":"Y Rakover","year":"1996","unstructured":"Rakover, Y. et al. Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand Growth database (OZGROW). Eur. J. Pediatr. 155, 851\u2013857 (1996).","journal-title":"Eur. J. Pediatr."},{"key":"BFnrendo2016138_CR106","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1210\/jc.2006-2017","volume":"92","author":"PE Clayton","year":"2007","unstructured":"Clayton, P. E. et al. Management of the child born small for gestational age through to adulthood: a consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society. J. Clin. Endocrinol. Metab. 92, 804\u2013810 (2007).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR107","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1111\/j.1365-2265.2007.02913.x","volume":"67","author":"RH Willemsen","year":"2007","unstructured":"Willemsen, R. H. et al. Long-term effects of growth hormone (GH) treatment on body composition and bone mineral density in short children born small-for-gestational-age: six-year follow-up of a randomized controlled GH trial. Clin. Endocrinol. (Oxf.) 67, 485\u2013492 (2007).","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"BFnrendo2016138_CR108","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1515\/JPEM.2004.17.4.591","volume":"17","author":"B Whitman","year":"2004","unstructured":"Whitman, B. et al. Growth hormone improves body composition and motor development in infants with Prader\u2013Willi syndrome after six months. J. Pediatr. Endocrinol. Metab. 17, 591\u2013600 (2004).","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR109","doi-asserted-by":"crossref","unstructured":"Myers, S. E. et al. Two years of growth hormone therapy in young children with Prader\u2013Willi syndrome: physical and neurodevelopmental benefits. Am. J. Med. Genet. A 143A, 443\u2013448 (2007).","DOI":"10.1002\/ajmg.a.31468"},{"key":"BFnrendo2016138_CR110","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1159\/000181070","volume":"30","author":"FM Ackland","year":"1988","unstructured":"Ackland, F. M. et al. Physiological growth hormone secretion in children with short stature and intra-uterine growth retardation. Horm. Res. 30, 241\u2013245 (1988).","journal-title":"Horm. Res."},{"key":"BFnrendo2016138_CR111","first-page":"235","volume":"84","author":"MN Dufourg","year":"2015","unstructured":"Dufourg, M. N. et al. Silver Russell syndrome: a cause of partial IGF1 resistance? Horm. Res. Paediatr. 84, 235 (2015).","journal-title":"Horm. Res. Paediatr."},{"key":"BFnrendo2016138_CR112","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1210\/er.2006-0039","volume":"28","author":"P Saenger","year":"2007","unstructured":"Saenger, P., Czernichow, P., Hughes, I. & Reiter, E. O. Small for gestational age: short stature and beyond. Endocr. Rev. 28, 219\u2013251 (2007).","journal-title":"Endocr. Rev."},{"key":"BFnrendo2016138_CR113","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1203\/00006450-197508000-00001","volume":"9","author":"JM Tanner","year":"1975","unstructured":"Tanner, J. M., Lejarraga, H. & Cameron, N. The natural history of the Silver\u2013Russell syndrome: a longitudinal study of thirty-nine cases. Pediatr. Res. 9, 611\u2013623 (1975).","journal-title":"Pediatr. Res."},{"key":"BFnrendo2016138_CR114","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1016\/S2213-8587(15)00380-0","volume":"4","author":"AC Latronico","year":"2016","unstructured":"Latronico, A. C., Brito, V. N. & Carel, J. C. Causes, diagnosis, and treatment of central precocious puberty. Lancet Diabetes Endocrinol. 4, 265\u2013274 (2016).","journal-title":"Lancet Diabetes Endocrinol."},{"key":"BFnrendo2016138_CR115","doi-asserted-by":"publisher","first-page":"5753","DOI":"10.1210\/jc.2003-030512","volume":"88","author":"V Boonstra","year":"2003","unstructured":"Boonstra, V., van Pareren, Y., Mulder, P. & Hokken-Koelega, A. Puberty in growth hormone-treated children born small for gestational age (SGA). J. Clin. Endocrinol. Metab. 88, 5753\u20135758 (2003).","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"Suppl. 2","key":"BFnrendo2016138_CR116","first-page":"234","volume":"76","author":"TA Vu-Hong","year":"2011","unstructured":"Vu-Hong, T. A., Rossignol, S., Chivu, O., Cabrol, S. & Netchine, I. Aggressive adrenarche in Silver\u2013Russell Syndrome compromises final height despite GH treatment. Horm. Res. Paediatr. 76 (Suppl. 2), 234 (2011).","journal-title":"Horm. Res. Paediatr."},{"key":"BFnrendo2016138_CR117","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1159\/000353759","volume":"80","author":"R Verkauskiene","year":"2013","unstructured":"Verkauskiene, R., Petraitiene, I. & Albertsson Wikland, K. Puberty in children born small for gestational age. Horm. Res. Paediatr. 80, 69\u201377 (2013).","journal-title":"Horm. Res. Paediatr."},{"key":"BFnrendo2016138_CR118","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1210\/jc.2007-1543","volume":"93","author":"RW Leunissen","year":"2008","unstructured":"Leunissen, R. W. et al. Fat mass accumulation during childhood determines insulin sensitivity in early adulthood. J. Clin. Endocrinol. Metab. 93, 445\u2013451 (2008).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR119","doi-asserted-by":"publisher","first-page":"2234","DOI":"10.1001\/jama.2009.761","volume":"301","author":"RW Leunissen","year":"2009","unstructured":"Leunissen, R. W., Kerkhof, G. F., Stijnen, T. & Hokken-Koelega, A. Timing and tempo of first-year rapid growth in relation to cardiovascular and metabolic risk profile in early adulthood. JAMA 301, 2234\u20132242 (2009).","journal-title":"JAMA"},{"key":"BFnrendo2016138_CR120","doi-asserted-by":"publisher","first-page":"3725","DOI":"10.1210\/jc.2015-2619","volume":"100","author":"M van der Steen","year":"2015","unstructured":"van der Steen, M. et al. Metabolic health in short children born small for gestational age treated with growth hormone and gonadotropin-releasing hormone analog: results of a randomized, dose-response trial. J. Clin. Endocrinol. Metab. 100, 3725\u20133734 (2015).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR121","doi-asserted-by":"publisher","first-page":"4096","DOI":"10.1210\/jc.2012-1987","volume":"97","author":"AJ Lem","year":"2012","unstructured":"Lem, A. J. et al. Adult height in short children born SGA treated with growth hormone and gonadotropin releasing hormone analog: results of a randomized, dose-response GH trial. J. Clin. Endocrinol. Metab. 97, 4096\u20134105 (2012).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR122","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1038\/nrendo.2011.161","volume":"8","author":"JM Wit","year":"2012","unstructured":"Wit, J. M., Hero, M. & Nunez, S. B. Aromatase inhibitors in pediatrics. Nat. Rev. Endocrinol. 8, 135\u2013147 (2012).","journal-title":"Nat. Rev. Endocrinol."},{"key":"BFnrendo2016138_CR123","unstructured":"US National Library of Medicine. ClinicalTrials.gov https:\/\/clinicaltrials.gov\/ct2\/show\/NCT01520467 (2016)."},{"key":"BFnrendo2016138_CR124","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1016\/S0140-6736(89)90710-1","volume":"2","author":"DJ Barker","year":"1989","unstructured":"Barker, D. J., Winter, P. D., Osmond, C., Margetts, B. & Simmonds, S. J. Weight in infancy and death from ischaemic heart disease. Lancet 2, 577\u2013580 (1989).","journal-title":"Lancet"},{"key":"BFnrendo2016138_CR125","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1136\/bmj.315.7105.396","volume":"315","author":"JW Rich-Edwards","year":"1997","unstructured":"Rich-Edwards, J. W. et al. Birth weight and risk of cardiovascular disease in a cohort of women followed up since 1976. BMJ 315, 396\u2013400 (1997).","journal-title":"BMJ"},{"key":"BFnrendo2016138_CR126","doi-asserted-by":"publisher","first-page":"1264","DOI":"10.1016\/S0140-6736(96)04257-2","volume":"348","author":"CN Martyn","year":"1996","unstructured":"Martyn, C. N., Barker, D. J. & Osmond, C. Mothers' pelvic size, fetal growth, and death from stroke and coronary heart disease in men in the UK. Lancet 348, 1264\u20131268 (1996).","journal-title":"Lancet"},{"key":"BFnrendo2016138_CR127","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1046\/j.1464-5491.2003.00871.x","volume":"20","author":"CA Newsome","year":"2003","unstructured":"Newsome, C. A. et al. Is birth weight related to later glucose and insulin metabolism? \u2014 A systematic review. Diabet Med. 20, 339\u2013348 (2003).","journal-title":"Diabet Med."},{"key":"BFnrendo2016138_CR128","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1093\/ije\/dyg201","volume":"32","author":"L Lauren","year":"2003","unstructured":"Lauren, L. et al. Relationship between birthweight and blood lipid concentrations in later life: evidence from the existing literature. Int. J. Epidemiol. 32, 862\u2013876 (2003).","journal-title":"Int. J. Epidemiol."},{"key":"BFnrendo2016138_CR129","doi-asserted-by":"publisher","first-page":"2755","DOI":"10.1001\/jama.292.22.2755","volume":"292","author":"R Huxley","year":"2004","unstructured":"Huxley, R. et al. Birth weight and subsequent cholesterol levels: exploration of the \u201cfetal origins\u201d hypothesis. JAMA 292, 2755\u20132764 (2004).","journal-title":"JAMA"},{"key":"BFnrendo2016138_CR130","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1097\/00004872-200018070-00002","volume":"18","author":"RR Huxley","year":"2000","unstructured":"Huxley, R. R., Shiell, A. W. & Law, C. M. The role of size at birth and postnatal catch-up growth in determining systolic blood pressure: a systematic review of the literature. J. Hypertens. 18, 815\u2013831 (2000).","journal-title":"J. Hypertens."},{"key":"BFnrendo2016138_CR131","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1080\/08035250600719754","volume":"95","author":"KK Ong","year":"2006","unstructured":"Ong, K. K. & Loos, R. J. Rapid infancy weight gain and subsequent obesity: systematic reviews and hopeful suggestions. Acta Paediatr. 95, 904\u2013908 (2006).","journal-title":"Acta Paediatr."},{"key":"BFnrendo2016138_CR132","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1159\/000338791","volume":"77","author":"RW Leunissen","year":"2012","unstructured":"Leunissen, R. W., Kerkhof, G. F., Stijnen, T. & Hokken-Koelega, A. C. Effect of birth size and catch-up growth on adult blood pressure and carotid intima-media thickness. Horm. Res. Paediatr. 77, 394\u2013401 (2012).","journal-title":"Horm. Res. Paediatr."},{"key":"BFnrendo2016138_CR133","doi-asserted-by":"publisher","first-page":"e100337","DOI":"10.1371\/journal.pone.0100337","volume":"9","author":"I Milovanovic","year":"2014","unstructured":"Milovanovic, I. et al. SGA children with moderate catch-up growth are showing the impaired insulin secretion at the age of 4. PLoS ONE 9, e100337 (2014).","journal-title":"PLoS ONE"},{"key":"BFnrendo2016138_CR134","doi-asserted-by":"publisher","first-page":"4657","DOI":"10.1210\/jc.2001-011940","volume":"87","author":"MA Veening","year":"2002","unstructured":"Veening, M. A., Van Weissenbruch, M. M. & Delemarre-Van De Waal, H. A. Glucose tolerance, insulin sensitivity, and insulin secretion in children born small for gestational age. J. Clin. Endocrinol. Metab. 87, 4657\u20134661 (2002).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR135","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1111\/cga.12105","volume":"55","author":"T Takenouchi","year":"2015","unstructured":"Takenouchi, T., Awazu, M., Eggermann, T. & Kosaki, K. Adult phenotype of Russell\u2013Silver syndrome: a molecular support for Barker\u2013Brenner's theory. Congenit. Anom. (Kyoto) 55, 167\u2013169 (2015).","journal-title":"Congenit. Anom. (Kyoto)"},{"key":"BFnrendo2016138_CR136","doi-asserted-by":"crossref","unstructured":"Searle, C. & Johnson, D. Russel\u2013Silver syndrome: a historical note and comment on an older adult. Am. J. Med. Genet. A170A, 466\u2013470 (2016).","DOI":"10.1002\/ajmg.a.37442"},{"key":"BFnrendo2016138_CR137","first-page":"3786","volume":"85","author":"T Sas","year":"2000","unstructured":"Sas, T., Mulder, P. & Hokken-Koelega, A. Body composition, blood pressure, and lipid metabolism before and during long-term growth hormone (GH) treatment in children with short stature born small for gestational age either with or without GH deficiency. J. Clin. Endocrinol. Metab. 85, 3786\u20133792 (2000).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR138","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1210\/jc.2002-020458","volume":"88","author":"Y Van Pareren","year":"2003","unstructured":"Van Pareren, Y. et al. Effect of discontinuation of growth hormone treatment on risk factors for cardiovascular disease in adolescents born small for gestational age. J. Clin. Endocrinol. Metab. 88, 347\u2013353 (2003).","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"Suppl. 3","key":"BFnrendo2016138_CR139","first-page":"463","volume":"17","author":"AC Hokken-Koelega","year":"2004","unstructured":"Hokken-Koelega, A. C., De Waal, W. J., Sas, T. C., Van Pareren, Y. & Arends, N. J. Small for gestational age (SGA): endocrine and metabolic consequences and effects of growth hormone treatment. J. Pediatr. Endocrinol. Metab. 17 (Suppl. 3), 463\u2013469 (2004).","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR140","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1159\/000353438","volume":"80","author":"RB Jensen","year":"2013","unstructured":"Jensen, R. B. et al. Baseline IGF-I levels determine insulin secretion and insulin sensitivity during the first year on growth hormone therapy in children born small for gestational age. Results from a North European Multicentre Study (NESGAS). Horm. Res. Paediatr. 80, 38\u201346 (2013).","journal-title":"Horm. Res. Paediatr."},{"key":"BFnrendo2016138_CR141","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1086\/508902","volume":"79","author":"L Feuk","year":"2006","unstructured":"Feuk, L. et al. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am. J. Hum. Genet. 79, 965\u2013972 (2006).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrendo2016138_CR142","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1002\/mds.25483","volume":"28","author":"EF Augustine","year":"2013","unstructured":"Augustine, E. F., Blackburn, J., Pellegrino, J. E., Miller, R. & Mink, J. W. Myoclonus-dystonia syndrome associated with Russell Silver syndrome. Mov. Disord. 28, 841\u2013842 (2013).","journal-title":"Mov. Disord."},{"key":"BFnrendo2016138_CR143","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1111\/cge.12075","volume":"84","author":"MB Sheridan","year":"2013","unstructured":"Sheridan, M. B. et al. Myoclonus-dystonia and Silver\u2013Russell syndrome resulting from maternal uniparental disomy of chromosome 7. Clin. Genet. 84, 368\u2013372 (2013).","journal-title":"Clin. Genet."},{"key":"BFnrendo2016138_CR144","first-page":"114","volume":"56","author":"V Rizzo","year":"2001","unstructured":"Rizzo, V., Traggiai, C. & Stanhope, R. Growth hormone treatment does not alter lower limb asymmetry in children with Russell\u2013Silver syndrome. Horm. Res. 56, 114\u2013116 (2001).","journal-title":"Horm. Res."},{"key":"BFnrendo2016138_CR145","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1007\/s11832-012-0474-3","volume":"7","author":"V Goldman","year":"2013","unstructured":"Goldman, V., McCoy, T. H., Harbison, M. D., Fragomen, A. T. & Rozbruch, S. R. Limb lengthening in children with Russell\u2013Silver syndrome: a comparison to other etiologies. J. Child. Orthop. 7, 151\u2013156 (2013).","journal-title":"J. Child. Orthop."},{"key":"BFnrendo2016138_CR146","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1097\/01241398-200409000-00017","volume":"24","author":"E Abraham","year":"2004","unstructured":"Abraham, E., Altiok, H. & Lubicky, J. P. Musculoskeletal manifestations of Russell\u2013Silver syndrome. J. Pediatr. Orthop. 24, 552\u2013564 (2004).","journal-title":"J. Pediatr. Orthop."},{"key":"BFnrendo2016138_CR147","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/j.jspd.2014.06.003","volume":"3","author":"KT Yamaguchi","year":"2015","unstructured":"Yamaguchi, K. T., Salem, J. B., Myung, K. S., Romero, A. N. & Skaggs, D. L. Spinal deformity in Russell\u2013Silver syndrome. Spine Deform. 3, 95\u201397 (2015).","journal-title":"Spine Deform."},{"key":"BFnrendo2016138_CR148","first-page":"926","volume":"35","author":"RS Farber","year":"2006","unstructured":"Farber, R. S. & Kerrigan, J. R. The multiple indications for growth hormone treatment of pediatric patients. Pediatr. Ann. 35, 926\u2013932 (2006).","journal-title":"Pediatr. Ann."},{"key":"BFnrendo2016138_CR149","doi-asserted-by":"publisher","first-page":"1274","DOI":"10.1210\/jc.2008-1844","volume":"94","author":"RF de Lind van Wijngaarden","year":"2009","unstructured":"de Lind van Wijngaarden, R. F. et al. Randomized controlled trial to investigate the effects of growth hormone treatment on scoliosis in children with Prader\u2013Willi syndrome. J. Clin. Endocrinol. Metab. 94, 1274\u20131280 (2009).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2016138_CR150","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1046\/j.1439-0280.2003.2c209.x","volume":"6","author":"A Bergman","year":"2003","unstructured":"Bergman, A., Kjellberg, H. & Dahlgren, J. Craniofacial morphology and dental age in children with Silver\u2013Russell syndrome. Orthod. Craniofac. Res. 6, 54\u201362 (2003).","journal-title":"Orthod. Craniofac. Res."},{"key":"BFnrendo2016138_CR151","first-page":"201","volume":"54","author":"CL Cullen","year":"1987","unstructured":"Cullen, C. L. & Wesley, R. K. Russell\u2013Silver syndrome: microdontia and other pertinent oral findings. ASDC J. Dent. Child. 54, 201\u2013204 (1987).","journal-title":"ASDC J. Dent. Child."},{"key":"BFnrendo2016138_CR152","first-page":"135","volume":"82","author":"N Hodge","year":"2015","unstructured":"Hodge, N., Evans, C. A., Simmons, K. E., Fadavi, S. & Viana, G. Occlusal characteristics of individuals with growth hormone deficiency, idiopathic short stature, and Russell\u2013Silver syndrome. J. Dent. Child. (Chic.) 82, 135\u2013140 (2015).","journal-title":"J. Dent. Child. (Chic.)"},{"key":"BFnrendo2016138_CR153","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/S0889-5406(99)70299-4","volume":"116","author":"RS Kisnisci","year":"1999","unstructured":"Kisnisci, R. S., Fowel, S. D. & Epker, B. N. Distraction osteogenesis in Silver Russell syndrome to expand the mandible. Am. J. Orthod. Dentofacial Orthop. 116, 25\u201330 (1999).","journal-title":"Am. J. Orthod. Dentofacial Orthop."},{"key":"BFnrendo2016138_CR154","doi-asserted-by":"publisher","first-page":"2549","DOI":"10.1016\/j.joms.2012.07.023","volume":"70","author":"P Metzler","year":"2012","unstructured":"Metzler, P., Obwegeser, J. A., Jacobsen, C. & Zemann, W. Anterior alveolar segmental osteodistraction with a bone-borne device: clinical and radiographic evaluation. J. Oral Maxillofac. Surg. 70, 2549\u20132558 (2012).","journal-title":"J. Oral Maxillofac. Surg."},{"issue":"Suppl. 1","key":"BFnrendo2016138_CR155","first-page":"262","volume":"84","author":"E Giabicani","year":"2015","unstructured":"Giabicani, E., Boule, M., Galliani, E. & Netchine, I. Sleep apneas in Silver Russell syndrome: a constant finding. Horm. Res. Paediatr. 84 (Suppl. 1), 262 (2015).","journal-title":"Horm. Res. Paediatr."},{"key":"BFnrendo2016138_CR156","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1111\/jpc.12778","volume":"51","author":"MB Abraham","year":"2015","unstructured":"Abraham, M. B. et al. Report and review of described associations of Mayer\u2013Rokitansky\u2013Kuster\u2013Hauser syndrome and Silver\u2013Russell syndrome. J. Paediatr. Child Health 51, 555\u2013560 (2015).","journal-title":"J. Paediatr. Child Health"},{"key":"BFnrendo2016138_CR157","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1007\/s004040100172","volume":"265","author":"J Bellver-Pradas","year":"2001","unstructured":"Bellver-Pradas, J. et al. Silver\u2013Russell syndrome associated to Mayer\u2013Rokitansky\u2013Kuster\u2013Hauser syndrome, diabetes and hirsutism. Arch. Gynecol. Obstet. 265, 155\u2013157 (2001).","journal-title":"Arch. Gynecol. Obstet."},{"key":"BFnrendo2016138_CR158","doi-asserted-by":"crossref","unstructured":"Ghanim, M. et al. Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver\u2013Russell syndrome. Am. J. Med. Genet. A 161A, 572\u2013577 (2013).","DOI":"10.1002\/ajmg.a.35691"},{"key":"BFnrendo2016138_CR159","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1056\/NEJMra0708473","volume":"359","author":"PD Gluckman","year":"2008","unstructured":"Gluckman, P. D., Hanson, M. A., Cooper, C. & Thornburg, K. L. Effect of in utero and early-life conditions on adult health and disease. N. Engl. J. Med. 359, 61\u201373 (2008).","journal-title":"N. Engl. J. Med."},{"key":"BFnrendo2016138_CR160","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/j.carpath.2013.08.004","volume":"23","author":"TD Ryan","year":"2014","unstructured":"Ryan, T. D. et al. Dilated cardiomyopathy in a 32-year-old woman with Russell\u2013Silver syndrome. Cardiovasc. Pathol. 23, 21\u201327 (2014).","journal-title":"Cardiovasc. Pathol."},{"key":"BFnrendo2016138_CR161","first-page":"717","volume":"34","author":"C Sheridan","year":"2005","unstructured":"Sheridan, C. Intrauterine growth restriction \u2014 diagnosis and management. Aust. Fam. Physician 34, 717\u2013723 (2005).","journal-title":"Aust. Fam. Physician"},{"key":"BFnrendo2016138_CR162","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1038\/35013106","volume":"405","author":"AT Hark","year":"2000","unstructured":"Hark, A. T. et al. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19\/Igf2 locus. Nature 405, 486\u2013489 (2000).","journal-title":"Nature"},{"key":"BFnrendo2016138_CR163","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1038\/35013100","volume":"405","author":"AC Bell","year":"2000","unstructured":"Bell, A. C. & Felsenfeld, G. Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene. Nature 405, 482\u2013485 (2000).","journal-title":"Nature"},{"key":"BFnrendo2016138_CR164","doi-asserted-by":"crossref","unstructured":"Allanson, J. E. et al. Elements of morphology: standard terminology for the head and face. Am. J. Med. Genet. A149A, 6\u201328 (2009).","DOI":"10.1002\/ajmg.a.32612"}],"container-title":["Nature Reviews Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nrendo.2016.138.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrendo.2016.138","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrendo.2016.138.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T05:02:21Z","timestamp":1718773341000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nrendo.2016.138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,2]]},"references-count":164,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["BFnrendo2016138"],"URL":"https:\/\/doi.org\/10.1038\/nrendo.2016.138","relation":{},"ISSN":["1759-5029","1759-5037"],"issn-type":[{"value":"1759-5029","type":"print"},{"value":"1759-5037","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,2]]},"assertion":[{"value":"2 September 2016","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"J.H.D. has received a travel bursary from Merck. B.D. has received honoraria from Fresenius Kiabi. A.G. has received financial support in respect of membership of the steering committee, Pfizer International Growth study (KIGS) database. A.H.-K. has received independent research funding for investigator-initiated and responsible studies, from Novo Nordisk Netherlands and Pfizer. A.L. has received consultancy fees from Sandoz-Alexion. K.M. has received research funding from Pfizer for SRS registry. P.M. has received consultancy fees from Novo Nordisk. S.O'C. has received speaker's fee from Pfizer Healthcare. G.B. has received consultancy fees from Novo Nordisk and Pfizer, as well as honoraria from Pfizer. The other authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}