{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:57:47Z","timestamp":1773269867483,"version":"3.50.1"},"reference-count":36,"publisher":"Hindawi Limited","issue":"11","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":2861,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2007,11]]},"DOI":"10.1002\/humu.20568","type":"journal-article","created":{"date-parts":[[2007,6,12]],"date-time":"2007-06-12T16:50:02Z","timestamp":1181667002000},"page":"1098-1107","source":"Crossref","is-referenced-by-count":58,"title":["Heterogeneity of<i>NSD1<\/i>alterations in 116 patients with Sotos syndrome"],"prefix":"10.1155","volume":"28","author":[{"given":"Pascale","family":"Saugier-Veber","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9line","family":"Bonnet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Afenjar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Drouin-Garraud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Coubes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9verine","family":"Fehrenbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muriel","family":"Holder-Espinasse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00eblle","family":"Roume","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Malan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-France","family":"Portnoi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Jeanne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clarisse","family":"Baumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delphine","family":"H\u00e9ron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"G\u00e9rard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Bonneau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Didier","family":"Lacombe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Cormier-Daire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Billette de Villemeur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Fr\u00e9bourg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lydie","family":"B\u00fcrglen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"10.1002\/humu.20568-BIB1","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1006\/geno.2001.6524","article-title":"NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines","volume":"74","author":"Angrand","year":"2001","journal-title":"Genomics"},{"key":"10.1002\/humu.20568-BIB2","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1086\/383093","article-title":"Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome","volume":"74","author":"Baujat","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20568-BIB3","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1002\/humu.10108","article-title":"Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments","volume":"20","author":"Casilli","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20568-BIB4","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1002\/ajmg.a.30492","article-title":"Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth","volume":"134","author":"Cecconi","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.20568-BIB5","first-page":"2760","article-title":"Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments","volume":"60","author":"Charbonnier","year":"2000","journal-title":"Cancer Res"},{"key":"10.1002\/humu.20568-BIB6","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/humu.20216","article-title":"The 5\u2032 region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences","volume":"26","author":"Charbonnier","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20568-BIB7","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1002\/(SICI)1096-8628(19990521)84:2<173::AID-AJMG17>3.0.CO;2-6","article-title":"Tumors and nontumors in Sotos syndrome","volume":"84","author":"Cohen","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20568-BIB8","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/S0065-3101(24)00038-0","article-title":"Overgrowth syndromes: an update","volume":"46","author":"Cohen","year":"1999","journal-title":"Adv Pediatr"},{"key":"10.1002\/humu.20568-BIB9","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1136\/jmg.31.1.20","article-title":"Sotos syndrome: a study of the diagnostic criteria and natural history","volume":"31","author":"Cole","year":"1994","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20568-BIB10","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/ajmg.a.30032","article-title":"Ganglioma in a Sotos syndrome patient with an NSD1 deletion","volume":"130","author":"Deardorff","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.20568-BIB11","first-page":"197","article-title":"Genotype-phenotype correlation in patients suspected of having Sotos syndrome","volume":"62","author":"De Boer","year":"2004","journal-title":"Horm Res"},{"key":"10.1002\/humu.20568-BIB12","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1086\/345647","article-title":"NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes","volume":"72","author":"Douglas","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20568-BIB13","doi-asserted-by":"crossref","first-page":"e56","DOI":"10.1136\/jmg.2005.031930","article-title":"Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification","volume":"42","author":"Douglas","year":"2005","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20568-BIB14","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1038\/sj.ejhg.5201298","article-title":"Childhood Overgrowth Collaboration. Evaluation of NSD2 and NSD3 in overgrowth syndromes","volume":"13","author":"Douglas","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.20568-BIB15","first-page":"P720","article-title":"Partial deletion of the NSD1 gene in a patient affected with Sotos syndrome","volume":"73","author":"Drouin-Garraud","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20568-BIB16","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1002\/ajmg.c.30061","article-title":"NSD1 mutations in Sotos syndrome","volume":"137","author":"Faravelli","year":"2005","journal-title":"Am J Med Genet Part C"},{"key":"10.1002\/humu.20568-BIB17","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1016\/S0022-3476(10)80004-6","article-title":"Risk of malignancy in Sotos syndrome","volume":"120","author":"Hersh","year":"1992","journal-title":"J Pediatr"},{"key":"10.1002\/humu.20568-BIB18","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1136\/jmg.40.1.51","article-title":"Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene","volume":"40","author":"Hoglund","year":"2003","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20568-BIB19","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/S0962-8924(01)02001-3","article-title":"Re-SET-ting heterochromatin by histone methyltransferases","volume":"11","author":"Jenuwein","year":"2001","journal-title":"Trends Cell Biol"},{"key":"10.1002\/humu.20568-BIB20","doi-asserted-by":"crossref","first-page":"4060","DOI":"10.1182\/blood-2004-09-3704","article-title":"Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients","volume":"105","author":"Keats","year":"2005","journal-title":"Blood"},{"key":"10.1002\/humu.20568-BIB21","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1038\/ng863","article-title":"Haploinsufficiency of NSD1 causes Sotos syndrome","volume":"30","author":"Kurotaki","year":"2002","journal-title":"Nat Genet"},{"key":"10.1002\/humu.20568-BIB22","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1002\/humu.10270","article-title":"Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion","volume":"22","author":"Kurotaki","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20568-BIB23","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1136\/jmg.40.4.285","article-title":"Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions","volume":"40","author":"Nagai","year":"2003","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20568-BIB24","doi-asserted-by":"crossref","first-page":"3153","DOI":"10.1093\/emboj\/cdg288","article-title":"NSD1 is essential for early post-implantation development and has a catalytically active SET domain","volume":"22","author":"Rayasam","year":"2003","journal-title":"EMBO J"},{"key":"10.1002\/humu.20568-BIB25","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1136\/jmg.40.6.436","article-title":"Spectrum of NSD1 mutations in Sotos and Weaver syndromes","volume":"40","author":"Rio","year":"2003","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20568-BIB26","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/ng1718","article-title":"APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy","volume":"38","author":"Rovelet-Lecrux","year":"2006","journal-title":"Nat Genet"},{"key":"10.1002\/humu.20568-BIB27","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1038\/sj.ejhg.5201661","article-title":"Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation","volume":"14","author":"Saugier-Veber","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.20568-BIB28","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/S0168-9525(02)02592-1","article-title":"Genome architecture, rearrangements and genomic disorders","volume":"18","author":"Stankiewicz","year":"2002","journal-title":"Trends Genet"},{"key":"10.1002\/humu.20568-BIB29","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1097\/00019605-200410000-00001","article-title":"Clinical features of NSD1-positive Sotos syndrome","volume":"13","author":"Tatton-Brown","year":"2004","journal-title":"Clin Dysmorphol"},{"key":"10.1002\/humu.20568-BIB30","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1136\/jmg.2004.027755","article-title":"Childhood Overgrowth Collaboration. Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome","volume":"42","author":"Tatton-Brown","year":"2005","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20568-BIB31","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1086\/432082","article-title":"Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations","volume":"77","author":"Tatton-Brown","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20568-BIB32","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1038\/sj.ejhg.5201686","article-title":"Sotos syndrome","volume":"15","author":"Tatton-Brown","year":"2007","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.20568-BIB33","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1038\/sj.ejhg.5201050","article-title":"Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes","volume":"11","author":"Turkmen","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.20568-BIB34","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1097\/00008480-200312000-00010","article-title":"Genetics of Sotos syndrome","volume":"15","author":"Visser","year":"2003","journal-title":"Curr Opin Pediatr"},{"key":"10.1002\/humu.20568-BIB35","doi-asserted-by":"crossref","first-page":"e66","DOI":"10.1136\/jmg.2005.034355","article-title":"Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions","volume":"42","author":"Visser","year":"2005","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20568-BIB36","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1097\/01.GIM.0000178503.15559.d3","article-title":"NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory","volume":"7","author":"Waggoner","year":"2005","journal-title":"Genet Med"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.20568","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.20568","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,15]],"date-time":"2024-02-15T02:14:10Z","timestamp":1707963250000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.20568"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,11]]},"references-count":36,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2007,11]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.20568","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,11]]}}}