{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:16:07Z","timestamp":1760782567022},"reference-count":25,"publisher":"Hindawi Limited","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":4261,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2004,3]]},"DOI":"10.1002\/humu.20001","type":"journal-article","created":{"date-parts":[[2004,2,16]],"date-time":"2004-02-16T08:08:28Z","timestamp":1076918908000},"page":"278-284","source":"Crossref","is-referenced-by-count":40,"title":["Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR"],"prefix":"10.1155","volume":"23","author":[{"given":"Isabelle","family":"Coupry","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Monnet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azza Abd El","family":"Moneim Attia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Taine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Didier","family":"Lacombe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beno\ufffdt","family":"Arveiler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2004]]},"reference":[{"key":"10.1002\/humu.20001-BIB1","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/(SICI)1096-8628(20000103)90:1<29::AID-AJMG6>3.0.CO;2-Z","volume":"90","author":"Blough","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20001-BIB2","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1002\/humu.10108","volume":"20","author":"Casilli","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20001-BIB3","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1038\/365855a0","volume":"365","author":"Chrivia","year":"1993","journal-title":"Nature"},{"key":"10.1002\/humu.20001-BIB4","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1136\/jmg.39.6.415","volume":"39","author":"Coupry","year":"2002","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20001-BIB5","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","volume":"70","author":"Felk\u00f6tter","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20001-BIB6","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1002\/humu.10199","volume":"21","author":"Gable","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20001-BIB7","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1006\/geno.1997.4699","volume":"42","author":"Giles","year":"1997","journal-title":"Genomics"},{"key":"10.1002\/humu.20001-BIB8","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/S0168-9525(98)01438-3","volume":"14","author":"Giles","year":"1998","journal-title":"Trends Genet"},{"key":"10.1002\/humu.20001-BIB9","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1093\/hmg\/10.16.1649","volume":"10","author":"Hedrich","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20001-BIB10","first-page":"255","volume":"52","author":"Hennekam","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20001-BIB11","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1002\/ajmg.1320380430","volume":"38","author":"Imaizumi","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20001-BIB12","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1002\/ajmg.1320440134","volume":"44","author":"Lacombe","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20001-BIB13","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.1320530409","volume":"53","author":"Masuno","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20001-BIB14","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1136\/jmg.33.1.82","volume":"33","author":"McGaughran","year":"1996","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20001-BIB15","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1038\/376348a0","volume":"376","author":"Petrij","year":"1995","journal-title":"Nature"},{"key":"10.1002\/humu.20001-BIB16","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1136\/jmg.37.3.168","volume":"37","author":"Petrij","year":"2000a","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20001-BIB17","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/(SICI)1096-8628(20000501)92:1<47::AID-AJMG8>3.0.CO;2-H","volume":"92","author":"Petrij","year":"2000b","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20001-BIB18","first-page":"6167","volume-title":"The metabolic and molecular bases of inherited disease","author":"Petrij","year":"2001","unstructured":"2001. Rubinstein-Taybi syndrome. In: editors. The metabolic and molecular bases of inherited disease. 8th edition. New York: McGraw-Hill, p 6167-6182."},{"key":"10.1002\/humu.20001-BIB19","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1093\/clinchem\/44.4.724","volume":"44","author":"Poropat","year":"1998","journal-title":"Clin Chem"},{"key":"10.1002\/humu.20001-BIB20","doi-asserted-by":"crossref","first-page":"1574","DOI":"10.1093\/clinchem\/46.10.1574","volume":"46","author":"Ruiz-Ponte","year":"2000","journal-title":"Clin Chem"},{"key":"10.1002\/humu.20001-BIB21","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1002\/(SICI)1096-8628(19980707)78:3<267::AID-AJMG12>3.0.CO;2-D","volume":"78","author":"Taine","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20001-BIB22","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/ajmg.1320440223","volume":"44","author":"Tommerup","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20001-BIB23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.34.3.203","volume":"34","author":"Wallerstein","year":"1997","journal-title":"Med Genet"},{"key":"10.1002\/humu.20001-BIB24","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1086\/341942","volume":"71","author":"White","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20001-BIB25","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1212\/WNL.50.3.760","volume":"50","author":"Young","year":"1998","journal-title":"Neurology"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.20001","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.20001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:51:08Z","timestamp":1672332668000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.20001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,3]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.20001","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004]]}}}