{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:14:32Z","timestamp":1777803272296,"version":"3.51.4"},"reference-count":19,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2010,7,14]],"date-time":"2010-07-14T00:00:00Z","timestamp":1279065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2010,8]]},"abstract":"<jats:p>\n                    Rett syndrome is a severe disorder characterized by loss of acquired skills after a period of normal development in infant girls. It is caused mainly by mutations in the MECP2 gene. In this study, we reported mutations in the MECP2 gene in 7 Tunisian patients with classic Rett syndrome. The results showed the presence of a double mutation in 1 patient: p.R306C and c.1461+98insA, which create a new hypothetical polyadenylation site in the 3\n                    <jats:sup>\u2032<\/jats:sup>\n                    UTR of the MECP2 gene. We also detected in another patient a new variant c.1461+92C&gt;G in the 3\n                    <jats:sup>\u2032<\/jats:sup>\n                    UTR located previous to 34 bp from the polyadenylation site with a score of 4.085. This variation is located in a hypothetical splicing enhancer with a score of 1.96277 according to the ESE finder program. In the remaining 5 patients, we found 2 common mutations: p.T158M in 4 individuals and p.R168X in only 1 girl.\n                  <\/jats:p>","DOI":"10.1177\/0883073809356353","type":"journal-article","created":{"date-parts":[[2010,7,14]],"date-time":"2010-07-14T14:05:07Z","timestamp":1279116307000},"page":"1042-1046","source":"Crossref","is-referenced-by-count":9,"title":["Mutational Analysis of the\n                    <i>MECP2<\/i>\n                    Gene in Tunisian Patients With Rett Syndrome: A Novel Double Mutation"],"prefix":"10.1177","volume":"25","author":[{"given":"Nourhene","family":"Fendri-Kriaa","sequence":"first","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine, Facult\u00e9 de M\u00e9decine de Sfax, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emna","family":"Mkaouar-Rebai","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine, Facult\u00e9 de M\u00e9decine de Sfax, Sfax, Tunisia,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorsaf","family":"Moalla","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine, Facult\u00e9 de M\u00e9decine de Sfax, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neila","family":"Belguith","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine, Facult\u00e9 de M\u00e9decine de Sfax, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nacim","family":"Louhichi","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine, Facult\u00e9 de M\u00e9decine de Sfax, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramzi","family":"Zemni","sequence":"additional","affiliation":[{"name":"Unit\u00e9 d'Immunologie, Facult\u00e9 de M\u00e9decine de Sousse, Sousse, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Foued","family":"Slama","sequence":"additional","affiliation":[{"name":"Unit\u00e9 d'Immunologie, Facult\u00e9 de M\u00e9decine de Sousse, Sousse, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chahnez","family":"Triki","sequence":"additional","affiliation":[{"name":"Service de Neurologie Infantile, C.H.U. H\u00e9di Chaker de Sfax, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faiza","family":"Fakhfakh","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine, Facult\u00e9 de M\u00e9decine de Sfax, Sfax, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Tunisian Network on Mental Retardation","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2010,7,14]]},"reference":[{"issue":"1","key":"atypb1","first-page":"5","volume":"6","author":"Hagberg B.","year":"1997","journal-title":"Eur Child Adolesc Psychiatry"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140412"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-17377"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1038\/ng1516"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00333-3"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1159\/000165342"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1086\/302690"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2004.06.003"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1378.069"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2008.0076"},{"key":"atypb12","first-page":"522","volume":"13","author":"Lewin HA","year":"1992","journal-title":"Biotechniques"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000422"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1155\/2008\/738401"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1878"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10053"},{"key":"atypb17","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2008.0012"},{"key":"atypb18","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0121-x"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30490"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073809356353","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073809356353","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:35:36Z","timestamp":1777494936000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073809356353"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,7,14]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2010,8]]}},"alternative-id":["10.1177\/0883073809356353"],"URL":"https:\/\/doi.org\/10.1177\/0883073809356353","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,7,14]]}}}