{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:44:16Z","timestamp":1775306656824,"version":"3.50.1"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T00:00:00Z","timestamp":1269561600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2010,4]]},"DOI":"10.1038\/jhg.2010.14","type":"journal-article","created":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T10:23:06Z","timestamp":1269598986000},"page":"244-247","source":"Crossref","is-referenced-by-count":24,"title":["Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation"],"prefix":"10.1038","volume":"55","author":[{"given":"Shozo","family":"Honda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji O","family":"Orii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junya","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Imamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Issei","family":"Imoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Nakagawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-ichi","family":"Goto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johji","family":"Inazawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2010,3,26]]},"reference":[{"key":"BFjhg201014_CR1","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1038\/nrg1501","volume":"6","author":"HH Ropers","year":"2005","unstructured":"Ropers, H. H. & Hamel, B. C. J. X-linked mental retardation. Nat. Rev. Genet. 6, 46\u201357 (2005).","journal-title":"Nat. Rev. Genet."},{"key":"BFjhg201014_CR2","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1038\/sj.ejhg.5201994","volume":"16","author":"P Chiurazzi","year":"2008","unstructured":"Chiurazzi, P., Schwartz, C. E., Gecz, J. & Neri, G. XLMR genes: update 2007. Eur. J. Hum. Genet. 16, 422\u2013434 (2008).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFjhg201014_CR3","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1038\/ng.367","volume":"41","author":"PS Tarpey","year":"2009","unstructured":"Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C. et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat. Genet. 41, 535\u2013543 (2009).","journal-title":"Nat. Genet."},{"key":"BFjhg201014_CR4","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1002\/humu.9482","volume":"28","author":"AP de Brouwer","year":"2007","unstructured":"de Brouwer, A. P., Yntema, H. G., Kleefstra, T., Lugtenberg, D., Oudakker, A. R., de Vries, B. B. et al. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum. Mutat. 28, 207\u2013208 (2007).","journal-title":"Hum. Mutat."},{"key":"BFjhg201014_CR5","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1086\/507047","volume":"79","author":"RM Nascimento","year":"2006","unstructured":"Nascimento, R. M., Otto, P. A., de Brouwer, A. P. & Vianna-Morgante, A. M. UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. Am. J. Hum. Genet. 79, 549\u2013555 (2006).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg201014_CR6","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1002\/ajmg.a.31638","volume":"143A","author":"S Honda","year":"2007","unstructured":"Honda, S., Hayashi, S., Kato, M., Niida, Y., Hayasaka, K., Okuyama, T. et al. Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene. Am. J. Med. Genet. A 143A, 687\u2013693 (2007).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFjhg201014_CR7","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1086\/341123","volume":"71","author":"RM Plenge","year":"2002","unstructured":"Plenge, R. M., Stevenson, R. A., Lubs, H. A., Schwartz, C. E. & Willard, H. F. Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am. J. Hum. Genet. 71, 168\u2013173 (2002).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg201014_CR8","doi-asserted-by":"publisher","first-page":"826","DOI":"10.1038\/nrn2499","volume":"9","author":"HC Tai","year":"2008","unstructured":"Tai, H. C. & Schuman, E. M. Ubiquitin, the proteasome and protein degradation in neuronal function and dysfunction. Nat. Rev. Neurosci. 9, 826\u2013838 (2008).","journal-title":"Nat. Rev. Neurosci."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg201014.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201014","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201014.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:26:55Z","timestamp":1684430815000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg201014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3,26]]},"references-count":8,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["BFjhg201014"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2010.14","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,3,26]]}}}