{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T22:14:05Z","timestamp":1785190445568,"version":"3.55.0"},"reference-count":15,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>We investigated the frequency of copy number variations (CNVs) in the Y chromosome of Japanese children with hypospadias. We analyzed the copy number of the azoospermia factor (AZF) region and &lt;i&gt;SRY&lt;\/i&gt;, using multiplex ligation-dependent probe amplification. Four AZF-linked CNVs, including one novel simple duplication, were identified in 39 of 89 patients, at a frequency comparable to that of those in unaffected individuals. &lt;i&gt;SRY&lt;\/i&gt;-linked CNVs were absent in our patients. The results imply that CNVs in the AZF region and &lt;i&gt;SRY&lt;\/i&gt; are not associated with the risk of hypospadias in the Japanese population, although the pathogenicity of the AZF-linked simple duplication remains to be elucidated.<\/jats:p>","DOI":"10.1159\/000444938","type":"journal-article","created":{"date-parts":[[2016,3,29]],"date-time":"2016-03-29T22:47:51Z","timestamp":1459291671000},"page":"12-15","source":"Crossref","is-referenced-by-count":3,"title":["Copy Number Variations of the Azoospermia Factor Region and SRY Are Not Associated with the Risk of Hypospadias"],"prefix":"10.1159","volume":"10","author":[{"given":"Masafumi","family":"Kon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuki","family":"Saito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiko","family":"Mitsui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mami","family":"Miyado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maki","family":"Igarashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimihiko","family":"Moriya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuya","family":"Nonomura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuo","family":"Shinohara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2016,3,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dep174"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2605.2009.00957.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2004.17.2.143"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0226"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1159\/000377649"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deu364"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/ng757"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.09.003"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.115"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/det111"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-131"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/16.5.972"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(00)00629-4"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dms002"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.7.933"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/444938","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/444938","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/444938","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:52:14Z","timestamp":1745430734000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000444938"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2016,5,28]]},"published-print":{"date-parts":[[2016,5,12]]}},"URL":"https:\/\/doi.org\/10.1159\/000444938","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"value":"1661-5425","type":"print"},{"value":"1661-5433","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}