{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:34:47Z","timestamp":1791326087265,"version":"4.3.1"},"reference-count":34,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[1998,9,1]],"date-time":"1998-09-01T00:00:00Z","timestamp":904608000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5435,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1998,9]]},"DOI":"10.1086\/302016","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"794-802","source":"Crossref","is-referenced-by-count":75,"title":["A Gene Involved in XY Sex Reversal Is Located on Chromosome 9, Distal to Marker D9S1779"],"prefix":"10.1016","volume":"63","author":[{"given":"Wendy L.","family":"Flejter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Fergestad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerome","family":"Gorski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tena","family":"Varvill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Settara","family":"Chandrasekharappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/302016_bib1","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1093\/hmg\/2.6.785","article-title":"Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain","volume":"6","author":"Affara","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302016_bib2","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1038\/ng0894-497","article-title":"A dosage-sensitive locus at chromosome Xp21 is involved in male to female sex reversal","volume":"7","author":"Bardoni","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/302016_bib3","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1136\/jmg.30.6.518","article-title":"Deletion 9p and sex reversal","volume":"30","author":"Bennett","year":"1993","journal-title":"J Med Genet"},{"key":"10.1086\/302016_bib4","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1126\/science.7352285","article-title":"Abnormality of the X chromosome in human XY female with dysgenic ovaries","volume":"207","author":"Bernstein","year":"1980","journal-title":"Science"},{"key":"10.1086\/302016_bib5","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1038\/348448a0","article-title":"Genetic evidence equating SRY and the testis-determining factor","volume":"348","author":"Berta","year":"1990","journal-title":"Nature"},{"key":"10.1086\/302016_bib6","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1002\/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0","article-title":"Mutations in SRY and SOX9: testis-determining genes","volume":"9","author":"Cameron","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1086\/302016_bib7","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1111\/j.1399-0004.1988.tb02618.x","article-title":"An unbalanced autosomal translocation (7;9) associated with feminization","volume":"34","author":"Crocker","year":"1988","journal-title":"Clin Genet"},{"key":"10.1086\/302016_bib8","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/380152a0","article-title":"A comprehensive genetic map of the human genome based on 5,264 microsatellites","volume":"380","author":"Dib","year":"1996","journal-title":"Nature"},{"key":"10.1086\/302016_bib9","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1006\/geno.1993.1382","article-title":"Multicolor FISH mapping with ALU-PCR-amplified YAC clone DNA determines the order of markers in the BRCA1 region on chromosome 17q12-q21","volume":"17","author":"Flejter","year":"1993","journal-title":"Genomics"},{"key":"10.1086\/302016_bib10","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/0888-7543(95)80041-J","article-title":"Region specific cosmid and STRPs identified by chromosome microdissection and FISH","volume":"25","author":"Flejter","year":"1995","journal-title":"Genomics"},{"key":"10.1086\/302016_bib11","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/372525a0","article-title":"Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene","volume":"372","author":"Foster","year":"1994","journal-title":"Nature"},{"key":"10.1086\/302016_bib12","first-page":"49","article-title":"Double autosomal chromosomal aberrations (3p trisomy\/9p monosomy) and sex-reversal","volume":"29","author":"Fryns","year":"1986","journal-title":"Ann Genet"},{"key":"10.1086\/302016_bib13","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1093\/hmg\/1.6.447","article-title":"Four dinucleotide repeat polymorphisms on chromosome 9 (D9S143\u2013146)","volume":"1","author":"Furlong","year":"1992","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302016_bib14","first-page":"212","article-title":"Towards the identification of a 9p linked gene involved in human sex determination","volume":"61","author":"Guioli","year":"1997","journal-title":"Ann Hum Genet"},{"key":"10.1086\/302016_bib15","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1007\/BF00215684","article-title":"Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal","volume":"88","author":"Hawkins","year":"1992","journal-title":"Hum Genet"},{"key":"10.1086\/302016_bib16","first-page":"A78","article-title":"Possible location of a recessive testis forming gene on 9p24","volume":"45","author":"Hoo","year":"1989","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/302016_bib17","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/348452a0","article-title":"A human XY female with a frame-shift mutation in the candidate testis-determining gene SRY","volume":"348","author":"Jager","year":"1990","journal-title":"Nature"},{"key":"10.1086\/302016_bib18","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1007\/BF00286845","article-title":"A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)","volume":"33","author":"Jotterand","year":"1976","journal-title":"Hum Genet"},{"key":"10.1086\/302016_bib19","first-page":"1028","article-title":"Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal","volume":"57","author":"Kwok","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302016_bib20","first-page":"A33","article-title":"9p Monosomy associated with XY gonadal dysgenesis: a contiguous gene syndrome?","volume":"47","author":"Magenis","year":"1990","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/302016_bib21","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1002\/(SICI)1096-8628(19971219)73:3<321::AID-AJMG17>3.0.CO;2-L","article-title":"XY sex reversal and gonadal dysgenesis consequential to 9p24 monosomy","volume":"73","author":"McDonald","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1086\/302016_bib22","doi-asserted-by":"crossref","first-page":"11016","DOI":"10.1073\/pnas.89.22.11016","article-title":"XY sex reversal associated with a deletion 5\u2032 to the SRY \u201cHMG box\u201d in the testis-determining region","volume":"89","author":"McElreavy","year":"1992","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302016_bib23","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1093\/hmg\/6.1.91","article-title":"Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal","volume":"6","author":"Meyer","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302016_bib24","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1136\/jmg.34.4.331","article-title":"Impaired male development in an infant with molecularly defined partial 9p monosomy: implications for a testis forming gene(s) on 9p","volume":"34","author":"Ogata","year":"1997","journal-title":"J Med Genet"},{"key":"10.1086\/302016_bib25","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1046\/j.1469-1809.1997.6130183.x","article-title":"Report on the Fifth International Workshop on Chromosome 9","volume":"61","author":"Povey","year":"1997","journal-title":"Ann Hum Genet"},{"key":"10.1086\/302016_bib26","first-page":"309","article-title":"Ambiguous genitalia and hermaphroditism","author":"Robinson","year":"1993"},{"key":"10.1086\/302016_bib27","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1038\/346240a0","article-title":"A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif","volume":"346","author":"Sinclair","year":"1990","journal-title":"Nature"},{"key":"10.1086\/302016_bib28","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/gcc.2870130405","article-title":"In situ hybridization analysis of the Y chromosome in gonadoblastoma","volume":"13","author":"Sultana","year":"1995","journal-title":"Genes Chromosom Cancer"},{"key":"10.1086\/302016_bib29","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/ng0693-170","article-title":"Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1","volume":"4","author":"Tommerup","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/302016_bib30","first-page":"619","article-title":"A collection of ordered tetranucleotide-repeat markers from the human genome","volume":"57","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302016_bib32","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1006\/geno.1997.4648","article-title":"Deletions of distal 9p associated with 46,XY male to female sex reversal: definition of the breakpoints at 9p23.3-p24.1","volume":"41","author":"Veitia","year":"1997","journal-title":"Genomics"},{"key":"10.1086\/302016_bib33","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/0092-8674(94)90041-8","article-title":"Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9","volume":"79","author":"Wagner","year":"1994","journal-title":"Cell"},{"key":"10.1086\/302016_bib34","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/ajmg.1320460527","article-title":"Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review","volume":"46","author":"Wilkie","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1086\/302016_bib35","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/0888-7543(92)90456-3","article-title":"Linkage map of human chromosome 9 microsatellite polymorphisms","volume":"12","author":"Wilkie","year":"1992","journal-title":"Genomics"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707613810?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707613810?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T19:27:36Z","timestamp":1704396456000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707613810"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,9]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1998,9]]}},"alternative-id":["S0002929707613810"],"URL":"https:\/\/doi.org\/10.1086\/302016","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1998,9]]}}}