{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T10:55:06Z","timestamp":1791111306037,"version":"4.1.0"},"reference-count":7,"publisher":"Royal College of Psychiatrists","issue":"3","license":[{"start":{"date-parts":[[2018,1,2]],"date-time":"2018-01-02T00:00:00Z","timestamp":1514851200000},"content-version":"unspecified","delay-in-days":2315,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br J\n                        Psychiatry"],"published-print":{"date-parts":[[2011,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The 22q11.2 deletion is the most prominent known genetic risk factor for\n                        schizophrenia, but its penetrance is at most approximately 50% suggesting\n                        that additional risk factors are required for disease progression. We\n                        examined a woman with schizophrenia with this deletion for such risk\n                        factors. She had high plasma pentosidine levels (\u2018carbonyl stress\u2019) and a\n                        frameshift mutation in the responsible gene, <jats:italic>GLO1.<\/jats:italic> She also\n                        had a constant exotropia, so we examined the <jats:italic>PHOX2B<\/jats:italic> gene\n                        associated with both schizophrenia and strabismus, and detected a 5-alanine\n                        deletion. We propose that the combination of these genetic defects may have\n                        exceeded the threshold for the manifestation of schizophrenia.<\/jats:p>","DOI":"10.1192\/bjp.bp.111.093849","type":"journal-article","created":{"date-parts":[[2011,9,1]],"date-time":"2011-09-01T06:43:41Z","timestamp":1314859421000},"page":"245-246","source":"Crossref","is-referenced-by-count":29,"title":["Schizophrenia with the 22q11.2 deletion and additional genetic\n                        defects: case history"],"prefix":"10.1192","volume":"199","author":[{"given":"M.","family":"Toyosima","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Maekawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Toyota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Iwayama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Arai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Ichikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Miyashita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Arinami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Itokawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Yoshikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"170","published-online":{"date-parts":[[2018,1,2]]},"reference":[{"key":"S000712500025647X_ref2","volume-title":"Diagnostic and Statistical Manual of Mental Disorders (3rd edn, revised) (DSM\u2013III\u2013R)","year":"1987"},{"key":"S000712500025647X_ref5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh047"},{"key":"S000712500025647X_ref7","doi-asserted-by":"publisher","DOI":"10.1016\/0098-2997(93)90002-U"},{"key":"S000712500025647X_ref6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq259"},{"key":"S000712500025647X_ref4","doi-asserted-by":"publisher","DOI":"10.1001\/archgenpsychiatry.2010.62"},{"key":"S000712500025647X_ref1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn2841"},{"key":"S000712500025647X_ref3","doi-asserted-by":"publisher","DOI":"10.1016\/S0920-9964(00)00192-4"}],"container-title":["British Journal of Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S000712500025647X","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,27]],"date-time":"2019-04-27T02:57:37Z","timestamp":1556333857000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S000712500025647X\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,9]]}},"alternative-id":["S000712500025647X"],"URL":"https:\/\/doi.org\/10.1192\/bjp.bp.111.093849","relation":{},"ISSN":["0007-1250","1472-1465"],"issn-type":[{"value":"0007-1250","type":"print"},{"value":"1472-1465","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9]]}}}