{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:02:48Z","timestamp":1769558568601,"version":"3.49.0"},"reference-count":16,"publisher":"Hindawi Limited","issue":"7","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1236,"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":[[2012,7]]},"DOI":"10.1002\/humu.22072","type":"journal-article","created":{"date-parts":[[2012,3,13]],"date-time":"2012-03-13T19:54:34Z","timestamp":1331668474000},"page":"1031-1036","source":"Crossref","is-referenced-by-count":19,"title":["Rett networked database: An integrated clinical and genetic network of rett syndrome databases"],"prefix":"10.1155","volume":"33","author":[{"given":"Elisa","family":"Grillo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Villard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angus","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruria","family":"Ben Zeev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mercedes","family":"Pineda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Bahi-Buisson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Hryniewiecka-Jaworska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Bienvenu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Armstrong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Roche-Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Mari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edvige","family":"Veneselli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Russo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aglaia","family":"Vignoli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgio","family":"Pini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milena","family":"Djuric","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne-Marie","family":"Bisgaard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vlatka","family":"Meja\u0161ki Bo\u0161njak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"No\u00e9mi","family":"Polg\u00e1r","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Cogliati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirstine","family":"Ravn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Pintaudi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9la","family":"Melegh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dana","family":"Craiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Djukic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Renieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2012,4,13]]},"reference":[{"issue":"2","key":"10.1002\/humu.22072-BIB1|cit1","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2","volume":"23","author":"Amir","year":"1999","journal-title":"Nat Genet"},{"issue":"1","key":"10.1002\/humu.22072-BIB2|cit2","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.ajhg.2008.05.015","article-title":"FOXG1 is responsible for the congenital variant of Rett syndrome","volume":"83","author":"Ariani","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1002\/humu.22072-BIB3|cit3","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1002\/humu.10194","article-title":"RettBASE: the IRSA MECP2 variation database-a new mutation database in evolution","volume":"21","author":"Christodoulou","year":"2003","journal-title":"Hum Mutat"},{"issue":"5","key":"10.1002\/humu.22072-BIB4|cit4","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/sj.ejhg.5200473","article-title":"Preserved speech variant is allelic of classic Rett syndrome","volume":"8","author":"De Bona","year":"2000","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"10.1002\/humu.22072-BIB5|cit5","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"issue":"10","key":"10.1002\/humu.22072-BIB6|cit6","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1177\/08830738030180100301","article-title":"InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome","volume":"18","author":"Fyfe","year":"2003","journal-title":"J Child Neurol"},{"key":"10.1002\/humu.22072-BIB7|cit7","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1046\/j.1365-2214.2001.00222.x","article-title":"Using the Internet to pilot a questionnaire on childhood disability in Rett syndrome","volume":"27","author":"Fyfe","year":"2001","journal-title":"Child Care Health Dev"},{"issue":"3","key":"10.1002\/humu.22072-BIB8|cit8","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/S0387-7604(85)80037-1","article-title":"The clinical pattern of the Rett syndrome","volume":"7","author":"Hanefeld","year":"1985","journal-title":"Brain Dev"},{"issue":"Suppl 1","key":"10.1002\/humu.22072-BIB9|cit9","first-page":"8","article-title":"The prevalence and incidence of Rett syndrome in Australia","volume":"6","author":"Leonard","year":"1997","journal-title":"Eur Child Adolesc Psychiatry"},{"issue":"6","key":"10.1002\/humu.22072-BIB10|cit10","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: revised diagnostic criteria and nomenclature","volume":"68","author":"Neul","year":"2010","journal-title":"Ann Neurol"},{"issue":"12","key":"10.1002\/humu.22072-BIB11|cit11","doi-asserted-by":"crossref","first-page":"1338","DOI":"10.1177\/0883073807308715","article-title":"Rett syndrome: North American database","volume":"22","author":"Percy","year":"2007","journal-title":"J Child Neurol"},{"issue":"37","key":"10.1002\/humu.22072-BIB12|cit12","first-page":"723","article-title":"[On a unusual brain atrophy syndrome in hyperammonemia in childhood]","volume":"116","author":"Rett","year":"1966","journal-title":"Wien Med Wochenschr"},{"issue":"3","key":"10.1002\/humu.22072-BIB13|cit13","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/S0387-7604(85)80030-9","article-title":"Rett syndrome: report of eight cases","volume":"7","author":"Rolando","year":"1985","journal-title":"Brain Dev"},{"issue":"4","key":"10.1002\/humu.22072-BIB14|cit14","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1002\/humu.20453","article-title":"Italian Rett database and biobank","volume":"28","author":"Sampieri","year":"2007","journal-title":"Hum Mutat"},{"issue":"2","key":"10.1002\/humu.22072-BIB15|cit15","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1136\/jmg.2004.026237","article-title":"CDKL5\/STK9 is mutated in Rett syndrome variant with infantile spasms","volume":"42","author":"Scala","year":"2005","journal-title":"J Med Genet"},{"issue":"2","key":"10.1002\/humu.22072-BIB16|cit16","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/S0387-7604(12)80094-5","article-title":"The Rett girls with preserved speech","volume":"14","author":"Zappella","year":"1992","journal-title":"Brain Dev"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22072","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22072\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:30Z","timestamp":1672332810000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22072"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,13]]},"references-count":16,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2012,7]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22072","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2012,4,13]]}}}