{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T10:28:11Z","timestamp":1791282491128,"version":"4.1.0"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,11,1]]},"DOI":"10.1093\/molehr\/gah216","type":"journal-article","created":{"date-parts":[[2006,1,3]],"date-time":"2006-01-03T20:58:29Z","timestamp":1136321909000},"page":"833-836","source":"Crossref","is-referenced-by-count":68,"title":["A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis"],"prefix":"10.1093","volume":"11","author":[{"given":"P.","family":"Canto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Vilchis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"S\u00f6derlund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Reyes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.P.","family":"M\u00e9ndez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2006,1,3]]},"reference":[{"key":"key\n\t\t\t\t20171013035248_ALVAREZ-NAVA-ET-AL-2001","doi-asserted-by":"crossref","unstructured":"\u00c1lvarez-Nava\n              F\n            \n          , Soto M, Borjas L, Ortiz R, Rojas A, Martinez S, Revol A, Barrera H and \u00c1lvarez Z (2001) Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis. Ann Genet44,155\u2013159.","DOI":"10.1016\/S0003-3995(01)01081-4"},{"key":"key\n\t\t\t\t20171013035248_BITGOOD-AND-MCMAHON-1995","doi-asserted-by":"crossref","unstructured":"Bitgood\n              MJ\n            \n           and McMahon AP (1995) Hedgehog and Bmp genes are coexpressed at many diverse sites of cell-cell interaction in the mouse embryo. Dev Biol172,126\u2013138.","DOI":"10.1006\/dbio.1995.0010"},{"key":"key\n\t\t\t\t20171013035248_BITGOOD-ET-AL-1996","doi-asserted-by":"crossref","unstructured":"Bitgood\n              MJ\n            \n          , Shen L and McMahon AP (1996) Sertoli cell signaling by Desert hedgehog regulates the male germline. Curr Biol6,298\u2013304.","DOI":"10.1016\/S0960-9822(02)00480-3"},{"key":"key\n\t\t\t\t20171013035248_CAMERON-AND-SINCLAIR-1997","doi-asserted-by":"crossref","unstructured":"Cameron\n              FJ\n            \n           and Sinclair AH (1997) Mutations in SRY and SOX9: testis-determining genes. Hum Mutat9,388\u2013395.","DOI":"10.1002\/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0"},{"key":"key\n\t\t\t\t20171013035248_CANTO-ET-AL-1997","doi-asserted-by":"crossref","unstructured":"Canto\n              P\n            \n          , Vilchis F, Ch\u00e1vez B, Mutchinick O, Imperato-McGinley J, P\u00e9rez-Palacios G, Ulloa-Aguirre A and M\u00e9ndez JP (1997) Mutations of the 5 alpha-reductase type 2 gene in eight Mexican patients from six different pedigrees with 5 alpha-reductase-2 deficiency. Clin Endocrinol (Oxf)46,155\u2013160.","DOI":"10.1046\/j.1365-2265.1997.800904.x"},{"key":"key\n\t\t\t\t20171013035248_CANTO-ET-AL-2004A","doi-asserted-by":"crossref","unstructured":"Canto\n              P\n            \n          , Galicia N, S\u00f6derlund D, Escudero I and M\u00e9ndez JP (2004) Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with turner syndrome and Y mosaicism. Eur J Obstet Gynecol Reprod Biol15,55\u201358.","DOI":"10.1016\/j.ejogrb.2003.10.035"},{"key":"key\n\t\t\t\t20171013035248_CANTO-ET-AL-2004B","doi-asserted-by":"crossref","unstructured":"Canto\n              P\n            \n          , S\u00f6derlund D, Reyes E and M\u00e9ndez JP (2004) Mutations in the desert hedgehog (DHH) gene in patients with 46, XY complete pure gonadal dysgenesis. J Clin Endocrinol Metab89,4480\u20134483.","DOI":"10.1210\/jc.2004-0863"},{"key":"key\n\t\t\t\t20171013035248_CLARK-ET-AL-2000","doi-asserted-by":"crossref","unstructured":"Clark\n              AM\n            \n          , Garland KK and Russell LD (2000) Desert hedgehog (Dhh) gene is required in the mouse testis for formation of adult-type Leydig cells and normal development of peritubular cells and seminiferous tubules. Biol Reprod63,1825\u20131838.","DOI":"10.1095\/biolreprod63.6.1825"},{"key":"key\n\t\t\t\t20171013035248_INGHAM-1998","doi-asserted-by":"crossref","unstructured":"Ingham\n              PW\n            \n           (1998) Transducing hedgehog: the history so far. EMBO J17,3505\u20133511.","DOI":"10.1093\/emboj\/17.13.3505"},{"key":"key\n\t\t\t\t20171013035248_LEE-ET-AL-1994","doi-asserted-by":"crossref","unstructured":"Lee\n              JJ\n            \n          , Ekker SC, von Kessler DP, Porter JA, Sun BI and Beachy PA (1994) Autoproteolysis in hedgehog protein biogenesis. Science266,1528\u20131537.","DOI":"10.1126\/science.7985023"},{"key":"key\n\t\t\t\t20171013035248_MAILHES-ET-AL-1979","doi-asserted-by":"crossref","unstructured":"Mailhes\n              JB\n            \n          , Pittaway DE, Rary J, Chen H and Grafton WD (1979) H-Y antigen-positive male pseudohermaphroditism with 45, X\/46, XYq- mosaicism. Hum Genet53,57\u201363.","DOI":"10.1007\/BF00289452"},{"key":"key\n\t\t\t\t20171013035248_MENDEZ-ET-AL-1993","doi-asserted-by":"crossref","unstructured":"M\u00e9ndez\n              JP\n            \n          , Ulloa-Aguirre A, Kofman-Alfaro S, Mutchinick O, Fern\u00e1ndez del Castillo C, Reyes E and P\u00e9rez-Palacios G (1993) Mixed gonadal dysgenesis: clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients. Am J Med Genet46,263\u2013267.","DOI":"10.1002\/ajmg.1320460304"},{"key":"key\n\t\t\t\t20171013035248_MENDEZ-ET-AL-1999","doi-asserted-by":"crossref","unstructured":"M\u00e9ndez\n              JP\n            \n          , Canto P, L\u00f3pez M, de la Chesnaye E, Torres L, Ch\u00e1vez B, Ulloa-Aguirre A and Kofman-Alfaro S (1999) Scant XYqh- testicular cells with normal SRY was enough to differentiate bilateral testes in a 45,X\/46,XYqh- patient. Eur J Obstet Gynecol Reprod Biol87,159\u2013162.","DOI":"10.1016\/S0301-2115(99)00104-9"},{"key":"key\n\t\t\t\t20171013035248_ORITA-ET-AL-1989","doi-asserted-by":"crossref","unstructured":"Orita\n              M\n            \n          , Suzuki Y, Sekiya T and Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA-polymorphism using the polymerase chain reaction. Genomics5,874\u2013879.","DOI":"10.1016\/0888-7543(89)90129-8"},{"key":"key\n\t\t\t\t20171013035248_PIERUCCI-ALVES-ET-AL-2001","doi-asserted-by":"crossref","unstructured":"Pierucci-Alves\n              F\n            \n          , Clark AM and Russell LD (2001) A developmental study of the Desert hedgehog-null mouse testis. Biol Reprod65,1392\u20131402.","DOI":"10.1095\/biolreprod65.5.1392"},{"key":"key\n\t\t\t\t20171013035248_ROBBOY-ET-AL-1982","doi-asserted-by":"crossref","unstructured":"Robboy\n              SJ\n            \n          , Miller T, Donahoe PK, Jahre C, Welch WR, Haseltine FP, Miller WA, Atkins L and Crawford JD (1982) Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: perspective derived from a clinicopathologic analysis of twenty-one cases. Hum Pathol13,700\u2013716.","DOI":"10.1016\/S0046-8177(82)80292-X"},{"key":"key\n\t\t\t\t20171013035248_SAMBROOK-AND-RUSSELL-2001","unstructured":"Sambrook\n              J\n            \n           and Russell D (2001) Preparation and analysis of eukaryotic genomic DNA. In Nolan C (ed.), Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, New York, pp. 6.1\u20136.31."},{"key":"key\n\t\t\t\t20171013035248_SUGARMAN-ET-AL-1994","doi-asserted-by":"crossref","unstructured":"Sugarman\n              ID\n            \n          , Crolla JA and Malone PS (1994) Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review. Clin Genet46,313\u2013315.","DOI":"10.1111\/j.1399-0004.1994.tb04167.x"},{"key":"key\n\t\t\t\t20171013035248_TATE-ET-AL-2000","doi-asserted-by":"crossref","unstructured":"Tate\n              G\n            \n          , Satoh H, Endo Y and Mitsuya T (2000) Assignment of desert hedgehog (DHH) to human chromosome bands 12q12\u2192q13.1 by in situ hybridization. Cytogenet Cell Genet88,93\u201394.","DOI":"10.1159\/000015495"},{"key":"key\n\t\t\t\t20171013035248_UMEHARA-ET-AL-2000","doi-asserted-by":"crossref","unstructured":"Umehara\n              F\n            \n          , Tate G, Itoh K, Yamaguchi N, Douchi T, Mitsuya T and Osame M (2000) A novel mutation of desert hedgehog in a patient with 46, XY partial gonadal dysgenesis accompanied by minifascicular neurophaty. Am J Hum Genet67,1302\u20131305.","DOI":"10.1016\/S0002-9297(07)62958-9"},{"key":"key\n\t\t\t\t20171013035248_YAO-ET-AL-2002","doi-asserted-by":"crossref","unstructured":"Yao\n              HH\n            \n          , Whoriskey W and Capel B (2002) Desert hedgehog\/patched 1 signaling specifies fetal Leydig cell fate in testis organogenesis. Genes Dev16,1433\u20131440.","DOI":"10.1101\/gad.981202"}],"container-title":["MHR: Basic science of reproductive medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/molehr\/article-pdf\/11\/11\/833\/3599642\/gah216.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,10,13]],"date-time":"2017-10-13T04:12:50Z","timestamp":1507867970000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/molehr\/article\/11\/11\/833\/1053841\/A-heterozygous-mutation-in-the-desert-hedgehog"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11,1]]},"references-count":21,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2006,1,3]]},"published-print":{"date-parts":[[2005,11,1]]}},"URL":"https:\/\/doi.org\/10.1093\/molehr\/gah216","relation":{},"ISSN":["1460-2407","1360-9947"],"issn-type":[{"value":"1460-2407","type":"electronic"},{"value":"1360-9947","type":"print"}],"subject":[],"published-other":{"date-parts":[[2005,11]]},"published":{"date-parts":[[2005,11,1]]}}}