{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T16:32:19Z","timestamp":1789662739980,"version":"4.0.1"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004,12,1]]},"DOI":"10.1093\/humrep\/deh496","type":"journal-article","created":{"date-parts":[[2004,9,30]],"date-time":"2004-09-30T20:13:11Z","timestamp":1096575191000},"page":"2767-2770","source":"Crossref","is-referenced-by-count":45,"title":["A novel 30\u2009bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: Case report"],"prefix":"10.1093","volume":"19","author":[{"given":"Ksenija","family":"Gersak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Harris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy J.","family":"Smale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew N.","family":"Shelling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2004,12]]},"reference":[{"key":"key\n\t\t\t\t20171011122322_R1","doi-asserted-by":"crossref","unstructured":"Aittomaki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehvaslaiho H, Engel AR et al. (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell82, 959\u2013968.","DOI":"10.1016\/0092-8674(95)90275-9"},{"key":"key\n\t\t\t\t20171011122322_R2","unstructured":"Banerjee SK, Makdisi WF, Weston AP, Mitchell SM and Campbell DR (1995) Microwave-based DNA extraction from paraffin-embedded tissue for PCR amplification. Biotechniques18, 768\u2013773."},{"key":"key\n\t\t\t\t20171011122322_R3","doi-asserted-by":"crossref","unstructured":"Beau I, Touraine P, Meduri G, Gougeon A, Desroches A, Matuchansky C, Milgrom E, Kuttenn F and Misrahi M (1998) A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. J Clin Invest102, 1352\u20131359.","DOI":"10.1172\/JCI3795"},{"key":"key\n\t\t\t\t20171011122322_R4","doi-asserted-by":"crossref","unstructured":"Burger HG (1996) The menopausal transition. Bailliers Clin Obstet Gynaecol10, 347\u2013359.","DOI":"10.1016\/S0950-3552(96)80019-8"},{"key":"key\n\t\t\t\t20171011122322_R5","doi-asserted-by":"crossref","unstructured":"Conway GS (1997) Premature ovarian failure. Curr Opin Obstet Gynecol9, 202\u2013206.","DOI":"10.1097\/00001703-199706000-00012"},{"key":"key\n\t\t\t\t20171011122322_R6","doi-asserted-by":"crossref","unstructured":"Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S et al. (2001) The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis\/ptosis\/epicanthus inversus syndrome. Nat Genet27, 159\u2013166.","DOI":"10.1038\/84781"},{"key":"key\n\t\t\t\t20171011122322_R7","doi-asserted-by":"crossref","unstructured":"De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L et al. (2001) Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum Mol Genet10, 1591\u20131600.","DOI":"10.1093\/hmg\/10.15.1591"},{"key":"key\n\t\t\t\t20171011122322_R8","doi-asserted-by":"crossref","unstructured":"De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP et al. (2003) FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype\u2013phenotype correlation. Am J Hum Genet72, 478\u2013487.","DOI":"10.1086\/346118"},{"key":"key\n\t\t\t\t20171011122322_R9","doi-asserted-by":"crossref","unstructured":"Harris SE, Chand AL, Winship IM, Gersak K, Aittomaki K and Shelling AN (2002) Identification of novel mutations in FOXL2 associated with premature ovarian failure. Mol Hum Reprod8, 729\u2013733.","DOI":"10.1093\/molehr\/8.8.729"},{"key":"key\n\t\t\t\t20171011122322_R10","doi-asserted-by":"crossref","unstructured":"Kalantaridou SN, Davis SR and Nelson LM (1998) Premature ovarian failure. Endocrinol Metab Clin North Am27, 989\u20131006.","DOI":"10.1016\/S0889-8529(05)70051-7"},{"key":"key\n\t\t\t\t20171011122322_R11","doi-asserted-by":"crossref","unstructured":"Lass A, Gerrard A, Abusheikha N, Akagbosu F and Brinsden P (2000) IVF performance of women who have fluctuating early follicular FSH levels. J Assist Reprod Genet17, 566\u2013573.","DOI":"10.1023\/A:1026485830540"},{"key":"key\n\t\t\t\t20171011122322_R12","doi-asserted-by":"crossref","unstructured":"Latronico AC, Anasti J, Arnhold IJ, Rapaport R, Mendonca BB, Bloise W, Castro M, Tsigos C and Chrousos GP (1996) Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. N Engl J Med334, 507\u2013512.","DOI":"10.1056\/NEJM199602223340805"},{"key":"key\n\t\t\t\t20171011122322_R13","doi-asserted-by":"crossref","unstructured":"Murray A, Webb J, MacSwiney F, Shipley EL, Morton NE and Conway GS (1999) Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women. Hum Reprod14, 1217\u20131218.","DOI":"10.1093\/humrep\/14.5.1217"},{"key":"key\n\t\t\t\t20171011122322_R14","doi-asserted-by":"crossref","unstructured":"Shelling AN, Burton KA, Chand AL, van Ee CC, France JT, Farquhar CM, Milsom SR, Love DR, Gersak K, Aittomaki K et al. (2000) Inhibin: a candidate gene for premature ovarian failure. Hum Reprod15, 2644\u20132649.","DOI":"10.1093\/humrep\/15.12.2644"},{"key":"key\n\t\t\t\t20171011122322_R15","doi-asserted-by":"crossref","unstructured":"Schlessinger D, Herrera L, Crisponi L, Mumm S, Percesepe A, Pellegrini M, Pilia G and Forabosco A (2002) Genes and translocations involved in POF. Am J Med Genet111, 328\u2013333.","DOI":"10.1002\/ajmg.10565"},{"key":"key\n\t\t\t\t20171011122322_R16","doi-asserted-by":"crossref","unstructured":"Schmidt D, Ovitt CE, Anlag K, Fehsenfeld S, Gredsted L, Treier AC and Treier M (2004) The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance. Development131, 933\u2013942.","DOI":"10.1242\/dev.00969"},{"key":"key\n\t\t\t\t20171011122322_R17","doi-asserted-by":"crossref","unstructured":"Touraine P, Beau I, Gougeon A, Meduri G, Desroches A, Pichard C, Detoeuf M, Paniel B, Prieur M, Zorn JR et al. (1999) New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype. Mol Endocrinol13, 1844\u20131854.","DOI":"10.1210\/mend.13.11.0370"}],"container-title":["Human Reproduction"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/humrep\/article-pdf\/19\/12\/2767\/6951845\/deh496.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,10,11]],"date-time":"2017-10-11T12:23:45Z","timestamp":1507724625000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/humrep\/article\/19\/12\/2767\/2356256\/A-novel-30bp-deletion-in-the-FOXL2-gene-in-a"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12,1]]},"references-count":17,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2004,12]]},"published-print":{"date-parts":[[2004,12,1]]}},"URL":"https:\/\/doi.org\/10.1093\/humrep\/deh496","relation":{},"ISSN":["1460-2350","0268-1161"],"issn-type":[{"value":"1460-2350","type":"electronic"},{"value":"0268-1161","type":"print"}],"subject":[],"published-other":{"date-parts":[[2004,12]]},"published":{"date-parts":[[2004,12,1]]}}}