{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:49:57Z","timestamp":1790776197517,"version":"4.1.0"},"reference-count":36,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2000,10,1]],"date-time":"2000-10-01T00:00:00Z","timestamp":970358400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genomics"],"published-print":{"date-parts":[[2000,10]]},"DOI":"10.1006\/geno.2000.6327","type":"journal-article","created":{"date-parts":[[2002,9,17]],"date-time":"2002-09-17T22:31:03Z","timestamp":1032301863000},"page":"174-181","source":"Crossref","is-referenced-by-count":51,"title":["Identification and Characterization of an Xq26\u2013q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes"],"prefix":"10.1006","volume":"69","author":[{"given":"Frans A.","family":"Hol","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marga T.","family":"Schepens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia E.C.","family":"van Beersum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Redolfi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Affer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Vezzoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben C.J.","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela S.","family":"Karnes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin C.M.","family":"Mariman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ileana","family":"Zucchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1006\/geno.2000.6327_RF1","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/0888-7543(90)90170-Y","article-title":"Yeast artificial chromosomes containing human Xq24\u2013Xq28 DNA: Library construction and representation of probe sequences","volume":"7","author":"Abidi","year":"1990","journal-title":"Genomics"},{"key":"10.1006\/geno.2000.6327_RF2","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.2000.6327_RF3","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1002\/ajmg.1320170132","article-title":"Neural tube defects as an X-linked condition","volume":"17","author":"Baraitser","year":"1984","journal-title":"Am. J. Med. Genet."},{"key":"10.1006\/geno.2000.6327_RF4","doi-asserted-by":"crossref","first-page":"14771","DOI":"10.1073\/pnas.93.25.14771","article-title":"A metric map of humans: 23,500 loci in 850 bands","volume":"93","author":"Collins","year":"1996","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1006\/geno.2000.6327_RF5","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/S0022-3476(05)82051-7","article-title":"Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency","volume":"119","author":"Conley","year":"1991","journal-title":"J. Pediatr."},{"key":"10.1006\/geno.2000.6327_RF6","first-page":"1457","article-title":"Sublocalization of the synovial sarcoma-associated t(X;18) chromosomal breakpoint in Xp11.2 using cosmid cloning and fluorescence in situ hybridization","volume":"8","author":"de Leeuw","year":"1993","journal-title":"Oncogene"},{"key":"10.1006\/geno.2000.6327_RF7","first-page":"159","article-title":"Lumbosacral spina bifida and myeloschizis in a female foetus with de novo X\/autosomal translocation (t(X;22) (q27;q121))","volume":"7","author":"Fryns","year":"1996","journal-title":"Genet. Couns."},{"key":"10.1006\/geno.2000.6327_RF8","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 the Borjeson\u2013Forssman\u2013Lehmann 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.2000.6327_RF9","article-title":"Cytogenetic and molecular studies of a duplication of Xq26 and Xq27 in two brothers with neural tube defects","volume":"53S","author":"Goerss","year":"1993","journal-title":"Am. J. Hum. Genet."},{"key":"10.1006\/geno.2000.6327_RF10","series-title":"X-Linked Mental Retardation, a Clinical and Molecular Study","author":"Hamel","year":"1999"},{"key":"10.1006\/geno.2000.6327_RF11","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.2000.6327_RF12","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/(SICI)1096-9926(199709)56:3<177::AID-TERA1>3.0.CO;2-Z","article-title":"Genetic landmarks for defects in mouse neural tube closure","volume":"56","author":"Harris","year":"1997","journal-title":"Teratology"},{"key":"10.1006\/geno.2000.6327_RF13","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1136\/jmg.25.4.227","article-title":"A family showing apparent X linked inheritance of both anencephaly and spina bifida","volume":"25","author":"Jensson","year":"1988","journal-title":"J. Med. Genet."},{"key":"10.1006\/geno.2000.6327_RF14","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1093\/hmg\/9.11.1615","article-title":"A deletion encompassing Zic3 in Bent tail, a mouse model for X-linked neural tube defects","volume":"9","author":"Klootwijk","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1006\/geno.2000.6327_RF15","first-page":"910","article-title":"X-linked recessive panhypopituitarism associated with a regional duplication in Xq25\u2013q26","volume":"60","author":"Lagerstr\u00f6m-Ferm\u00e9r","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1006\/geno.2000.6327_RF16","unstructured":"Lehrach, H.et al.1990. InGenome Analysis, Vol. I, Genetic and Physical Mapping (K. E. Davis and S. M. Tilghman, Eds.), pp. 31\u201381, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY."},{"key":"10.1006\/geno.2000.6327_RF17","doi-asserted-by":"crossref","first-page":"9628","DOI":"10.1073\/pnas.88.21.9628","article-title":"Direct selection: A method for the isolation of cDNAs encoded by large genomic regions","volume":"88","author":"Lovett","year":"1991","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1006\/geno.2000.6327_RF18","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1136\/jmg.29.10.695","article-title":"Sex ratios of affected and transmitting members of multiple case families with neural tube defects","volume":"29","author":"Mariman","year":"1992","journal-title":"J. Med. Genet."},{"key":"10.1006\/geno.2000.6327_RF19","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.2000.6327_RF20","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.2000.6327_RF21","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1006\/geno.1996.0240","article-title":"YAC\/STS map of 9 Mb of Xq26 at 100-kb resolution, localizing 6 ESTs, 6 genes, and 32 genetic markers","volume":"34","author":"Pilia","year":"1996","journal-title":"Genomics"},{"key":"10.1006\/geno.2000.6327_RF22","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1006\/bbrc.1993.2454","article-title":"Human elongation factor EF-1\u03b2: Cloning and characterization of the EF1\u03b2 5a gene and assignment of EF-1\u03b2 isoforms to chromosomes 2, 5, 15, and X","volume":"197","author":"Pizzuti","year":"1993","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1006\/geno.2000.6327_RF23","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\u2013Xq27.2 in one family","volume":"76","author":"Raynaud","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1006\/geno.2000.6327_RF24","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1089\/dna.1998.17.1009","article-title":"Identification of CXorf1, a novel intronless gene in Xq27.3, expressed in human hippocampus","volume":"17","author":"Redolfi","year":"1998","journal-title":"DNA Cell Biol."},{"key":"10.1006\/geno.2000.6327_RF25","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/S0014-5793(99)00243-4","article-title":"Mapping of the MYCL2 processed gene to Xq22\u201323 and identification of an additional L MYC-related sequence in Xq27.2","volume":"446","author":"Redolfi","year":"1999","journal-title":"FEBS Lett."},{"key":"10.1006\/geno.2000.6327_RF26","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/3828","article-title":"A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis","volume":"20","author":"Ross","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1006\/geno.2000.6327_RF27","series-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook","year":"1989"},{"key":"10.1006\/geno.2000.6327_RF28","first-page":"21","article-title":"X-linked congenital panhypopituitarism","volume":"7","author":"Schimke","year":"1971","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"10.1006\/geno.2000.6327_RF29","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/(SICI)1096-8628(19971112)72:4<409::AID-AJMG7>3.0.CO;2-L","article-title":"Inherited inverted duplication of X chromosome in a male: Report of a patient and review of the literature","volume":"72","author":"Shapira","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"10.1006\/geno.2000.6327_RF30","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1093\/nar\/20.6.1427-a","article-title":"Trinucleotide repeat polymorphism in the androgen receptor gene (AR)","volume":"20","author":"Sleddens","year":"1992","journal-title":"Nucleic Acids Res."},{"key":"10.1006\/geno.2000.6327_RF31","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/ajmg.1320190228","article-title":"Report of a third kindred with X-linked anencephaly\/spina bifida","volume":"19","author":"Toriello","year":"1984","journal-title":"Am. J. Med. Genet."},{"key":"10.1006\/geno.2000.6327_RF32","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1002\/ajmg.1320060205","article-title":"Possible X-linked anencephaly and spina bifida\u2014Report of a kindred","volume":"6","author":"Toriello","year":"1980","journal-title":"Am. J. Med. Genet."},{"key":"10.1006\/geno.2000.6327_RF33","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/(SICI)1096-8628(19970110)68:1<29::AID-AJMG6>3.0.CO;2-T","article-title":"Molecular cytogenetic identification of four X chromosome duplications","volume":"68","author":"Zhang","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"10.1006\/geno.2000.6327_RF34","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":"1977","journal-title":"Clin. Genet."},{"key":"10.1006\/geno.2000.6327_RF35","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1006\/geno.1999.5768","article-title":"Transcription map of Xq27: Candidates for several X-linked diseases","volume":"57","author":"Zucchi","year":"1999","journal-title":"Genomics"},{"key":"10.1006\/geno.2000.6327_RF36","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1006\/geno.1996.0239","article-title":"YAC\/STS map across 12 Mb of Xq27 at 25-kb resolution, merging Xq26-qter","volume":"34","author":"Zucchi","year":"1996","journal-title":"Genomics"}],"container-title":["Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0888754300963274?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0888754300963274?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,5,9]],"date-time":"2019-05-09T00:26:20Z","timestamp":1557361580000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0888754300963274"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,10]]},"references-count":36,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2000,10]]}},"alternative-id":["S0888754300963274"],"URL":"https:\/\/doi.org\/10.1006\/geno.2000.6327","relation":{},"ISSN":["0888-7543"],"issn-type":[{"value":"0888-7543","type":"print"}],"subject":[],"published":{"date-parts":[[2000,10]]}}}