{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T02:37:09Z","timestamp":1784774229609,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100001862","name":"Svenska Forskningsr\u00e5det Formas","doi-asserted-by":"publisher","award":["12198"],"award-info":[{"award-number":["12198"]}],"id":[{"id":"10.13039\/501100001862","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["International Journal of Endocrinology"],"published-print":{"date-parts":[[2012]]},"abstract":"<jats:p>A 160\u2009kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains the<jats:italic>MAGEB<\/jats:italic>genes and the<jats:italic>NR0B1<\/jats:italic>gene; this is the candidate for gonadal dysgenesis if overexpressed. Most patients present gonadal dysgenesis within a more complex phenotype. However, few independent cases have recently been described presenting with isolated XY gonadal dysgenesis caused by relatively small<jats:italic>NR0B1<\/jats:italic>locus duplications. We have identified another<jats:italic>NR0B1<\/jats:italic>duplication in two sisters with isolated XY gonadal dysgenesis with an X-linked inheritance pattern. We performed X-inactivation studies in three fertile female carriers of three different small<jats:italic>NR0B1<\/jats:italic>locus duplications identified by our group. The carrier mothers did not show obvious skewing of X-chromosome inactivation, suggesting that<jats:italic>NR0B1<\/jats:italic>overexpression does not impair ovarian function. We furthermore emphasize the importance to investigate the<jats:italic>NR0B1<\/jats:italic>locus also in patients with isolated XY gonadal dysgenesis.<\/jats:p>","DOI":"10.1155\/2012\/504904","type":"journal-article","created":{"date-parts":[[2012,2,28]],"date-time":"2012-02-28T16:03:14Z","timestamp":1330444994000},"page":"1-7","source":"Crossref","is-referenced-by-count":18,"title":["Multigeneration Inheritance through Fertile XX Carriers of an<i>NR0B1<\/i>(<i>DAX1<\/i>) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis"],"prefix":"10.1155","volume":"2012","author":[{"given":"Michela","family":"Barbaro","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institut, Karolinska University Hospital, CMM L8:02, 17176 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jackie","family":"Cook","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield S 102 TH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Lagerstedt-Robinson","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institut, Karolinska University Hospital, CMM L8:02, 17176 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Wedell","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institut, Karolinska University Hospital, CMM L8:02, 17176 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-497"},{"issue":"9","key":"2","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1007\/BF00352360","volume":"6","year":"1995","journal-title":"Mammalian Genome"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-404"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.07.019"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1038\/35799"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1086\/320125"},{"issue":"4","key":"7","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1111\/j.1442-200X.1996.tb03513.x","volume":"38","year":"1996","journal-title":"Acta Paediatrica Japonica"},{"issue":"3","key":"8","first-page":"325","volume":"128","year":"2004","journal-title":"American Journal of Medical Genetics Part A"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0505"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.00980.x"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deq167"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0017793"},{"issue":"6","key":"13","first-page":"1229","volume":"51","year":"1992","journal-title":"American Journal of Human Genetics"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1089\/10665270050081478"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1086\/378594"},{"issue":"6507","key":"16","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/372672a0","volume":"372","year":"1994","journal-title":"Nature"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1086\/426833"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0373-8"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0923"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1038\/12623"},{"issue":"4","key":"21","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1136\/jmg.17.4.291","volume":"17","year":"1980","journal-title":"Journal of Medical Genetics"},{"issue":"3","key":"22","first-page":"291","volume":"81","year":"1989","journal-title":"Human Genetics"}],"container-title":["International Journal of Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/ije\/2012\/504904.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ije\/2012\/504904.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ije\/2012\/504904.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,20]],"date-time":"2017-06-20T10:57:24Z","timestamp":1497956244000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/ije\/2012\/504904\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":22,"alternative-id":["504904","504904"],"URL":"https:\/\/doi.org\/10.1155\/2012\/504904","relation":{},"ISSN":["1687-8337","1687-8345"],"issn-type":[{"value":"1687-8337","type":"print"},{"value":"1687-8345","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012]]}}}