{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T03:29:47Z","timestamp":1779247787957,"version":"3.51.4"},"reference-count":29,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2002,4,1]],"date-time":"2002-04-01T00:00:00Z","timestamp":1017619200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2002,4,1]],"date-time":"2002-04-01T00:00:00Z","timestamp":1017619200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genomics"],"published-print":{"date-parts":[[2002,4]]},"DOI":"10.1006\/geno.2002.6741","type":"journal-article","created":{"date-parts":[[2002,9,17]],"date-time":"2002-09-17T18:31:03Z","timestamp":1032287463000},"page":"553-559","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":62,"title":["Increased Gene Dosage at Xq26\u2013q27 Is Associated with X-Linked Hypopituitarism"],"prefix":"10.1006","volume":"79","author":[{"given":"Nicola M.","family":"Solomon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Nouri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Garry L.","family":"Warne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Lagerstr\u00f6m-Ferm\u00e9r","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan M.","family":"Forrest","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul Q.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1006\/geno.2002.6741_RF1","first-page":"910","article-title":"X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26","volume":"60","author":"Lagerstr\u00f6m-Ferm\u00e9r","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1006\/geno.2002.6741_RF2","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1006\/geno.2000.6327","article-title":"Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes","volume":"69","author":"Hol","year":"2000","journal-title":"Genomics"},{"key":"10.1006\/geno.2002.6741_RF3","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/S0168-9525(98)01476-0","article-title":"How many homeobox genes does it take to make a pituitary gland?","volume":"14","author":"Watkins-Chow","year":"1998","journal-title":"Trends Genet."},{"key":"10.1006\/geno.2002.6741_RF4","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1093\/hmg\/10.1.39","article-title":"Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia","volume":"10","author":"Thomas","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1006\/geno.2002.6741_RF5","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/477","article-title":"Mutations in the homeobox gene HESX1\/Hesx1 associated with septo-optic dysplasia in human and mouse","volume":"19","author":"Dattani","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1006\/geno.2002.6741_RF6","doi-asserted-by":"crossref","first-page":"4556","DOI":"10.1210\/jcem.85.12.7013","article-title":"Cortisol deficiency in combined pituitary hormone deficiency (CPHD) patients homozygous for a novel PROP1 deletion","volume":"85","author":"Agarwal","year":"2000","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1006\/geno.2002.6741_RF7","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/ng0298-147","article-title":"Mutations in PROP1 cause familial combined pituitary hormone deficiency","volume":"18","author":"Wu","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1006\/geno.2002.6741_RF8","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/ng0492-56","article-title":"Cretinism with combined hormone deficiency caused by a mutation in the Pit1 gene","volume":"1","author":"Tatsumi","year":"1992","journal-title":"Nat. Genet."},{"key":"10.1006\/geno.2002.6741_RF9","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1111\/j.1399-0004.1977.tb01309.x","article-title":"Variable X-linked recessive hypopituitarism with evidence of gonadotropin deficiency in two pre-pubertal males","volume":"11","author":"Zipf","year":"1971","journal-title":"Clin. Genet."},{"key":"10.1006\/geno.2002.6741_RF10","first-page":"24","article-title":"X-linked recessive hypopituitarism","volume":"7","author":"Phelan","year":"1971","journal-title":"Birth Defects Orig. Artic Ser."},{"key":"10.1006\/geno.2002.6741_RF11","first-page":"21","article-title":"X-linked congenital panhypopituitarism","volume":"7","author":"Schimke","year":"1977","journal-title":"Birth Defects Orig. Artic Ser."},{"key":"10.1006\/geno.2002.6741_RF12","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1038\/35057165","article-title":"The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X","volume":"409","author":"Bentley","year":"2001","journal-title":"Nature"},{"key":"10.1006\/geno.2002.6741_RF13","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"10.1006\/geno.2002.6741_RF14","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1034\/j.1399-0004.2000.570503.x","article-title":"The molecular basis for developmental disorders of the pituitary gland in man","volume":"57","author":"Dattani","year":"2000","journal-title":"Clin. Genet."},{"key":"10.1006\/geno.2002.6741_RF15","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1086\/319523","article-title":"Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome","volume":"68","author":"Petek","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1006\/geno.2002.6741_RF16","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1111\/j.1749-6632.1999.tb08585.x","article-title":"Distinct phenotypes associated with increasing dosage of the PLP gene: implications for CMT1A due to PMP22 gene duplication","volume":"883","author":"Anderson","year":"1999","journal-title":"Ann. NY Acad. Sci."},{"key":"10.1006\/geno.2002.6741_RF17","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1007\/s004390050910","article-title":"Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient","volume":"104","author":"Gecz","year":"1999","journal-title":"Hum. Genet."},{"key":"10.1006\/geno.2002.6741_RF18","doi-asserted-by":"crossref","first-page":"4954","DOI":"10.1073\/pnas.84.14.4954","article-title":"Cytogenetic and molecular studies on a recombinant human X chromosome: Implications for the spreading of X chromosome inactivation","volume":"84","author":"Mohandas","year":"1987","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1006\/geno.2002.6741_RF19","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1136\/jmg.32.11.891","article-title":"A familial Xp+ chromosome, dup (Xq26.3-qter)","volume":"32","author":"Vasquez","year":"1995","journal-title":"J. Med. Genet."},{"key":"10.1006\/geno.2002.6741_RF20","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1097\/00019605-200104000-00012","article-title":"Inherited duplication of Xq27.2-qter: phenocopy of infantile Prada-Willi syndrome","volume":"10","author":"Lammer","year":"2001","journal-title":"Clin. Dysmorphol."},{"key":"10.1006\/geno.2002.6741_RF21","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/1096-8628(2001)9999:9999<::AID-AJMG1150>3.0.CO;2-C","article-title":"Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation","volume":"99","author":"Ayikama","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1006\/geno.2002.6741_RF22","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/(SICI)1096-8628(19980319)76:3<255::AID-AJMG10>3.0.CO;2-G","article-title":"X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family","volume":"76","author":"Raynaud","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1006\/geno.2002.6741_RF23","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q","article-title":"Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings","volume":"64","author":"Hamel","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"10.1006\/geno.2002.6741_RF24","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1242\/dev.122.2.509","article-title":"A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2","volume":"122","author":"Collignan","year":"1996","journal-title":"Development"},{"key":"10.1006\/geno.2002.6741_RF25","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0925-4773(00)00356-7","article-title":"Ectopic Sox3 activity elicits sensory placode formation","volume":"95","author":"Koster","year":"2000","journal-title":"Mech. Dev."},{"key":"10.1006\/geno.2002.6741_RF26","doi-asserted-by":"crossref","first-page":"R592","DOI":"10.1016\/S0960-9822(01)00360-8","article-title":"Wnt signalling: antagonistic Dickkopfs","volume":"11","author":"Zorn","year":"2001","journal-title":"Curr. Biol."},{"key":"10.1006\/geno.2002.6741_RF27","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1101\/gad.12.11.1691","article-title":"Multistep signalling requirements for pituitary organogenesis in vivo","volume":"12","author":"Trier","year":"1998","journal-title":"Genes Dev."},{"key":"10.1006\/geno.2002.6741_RF28","series-title":"The ACT Cytogenetics Laboratory Manual 2nd Edition","author":"Barch","year":"1996"},{"key":"10.1006\/geno.2002.6741_RF29","series-title":"Roche Molecular Biochemicals: Non-radioactive In Situ Hybridisation Application Manual 2nd edition","author":"Grunweld-Janho","year":"1996"}],"container-title":["Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0888754302967418?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0888754302967418?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:11:16Z","timestamp":1760163076000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0888754302967418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,4]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,4]]}},"alternative-id":["S0888754302967418"],"URL":"https:\/\/doi.org\/10.1006\/geno.2002.6741","relation":{},"ISSN":["0888-7543"],"issn-type":[{"value":"0888-7543","type":"print"}],"subject":[],"published":{"date-parts":[[2002,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Increased Gene Dosage at Xq26\u2013q27 Is Associated with X-Linked Hypopituitarism","name":"articletitle","label":"Article Title"},{"value":"Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1006\/geno.2002.6741","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"converted-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2002 Elsevier Science (USA). All rights reserved.","name":"copyright","label":"Copyright"}]}}