{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:23:11Z","timestamp":1791289391089,"version":"4.3.0"},"reference-count":19,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2004,12,1]],"date-time":"2004-12-01T00:00:00Z","timestamp":1101859200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3152,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2004,12]]},"DOI":"10.1086\/425985","type":"journal-article","created":{"date-parts":[[2004,11,3]],"date-time":"2004-11-03T14:55:17Z","timestamp":1099493717000},"page":"979-987","source":"Crossref","is-referenced-by-count":246,"title":["Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria"],"prefix":"10.1016","volume":"75","author":[{"given":"Tracy","family":"Dixon-Salazar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Silhavy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Marsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie M.","family":"Louie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley C.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aithala","family":"Gururaj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihadh","family":"Al-Gazali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma A.","family":"Al-Tawari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hulya","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e1szl\u00f3","family":"Sztriha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G.","family":"Gleeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/425985_bib5","first-page":"1814","article-title":"Syndromes of bilateral symmetrical polymicrogyria","volume":"20","author":"Barkovich","year":"1999","journal-title":"Am J Neuroradiol"},{"key":"10.1086\/425985_bib6","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1177\/088307389901401007","article-title":"Clinical nosologic and genetic aspects of Joubert and related syndromes","volume":"14","author":"Chance","year":"1999","journal-title":"J Child Neurol"},{"key":"10.1086\/425985_bib7","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1038\/ng1419","article-title":"Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome","volume":"36","author":"Ferland","year":"2004","journal-title":"Nat Genet"},{"key":"10.1086\/425985_bib8","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1002\/ajmg.a.20437","article-title":"Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes","volume":"125A","author":"Gleeson","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1086\/425985_bib9","series-title":"Mouse brain development","year":"2000"},{"key":"10.1086\/425985_bib10","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/ng1097-149","article-title":"A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1","volume":"17","author":"Hildebrandt","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/425985_bib11","doi-asserted-by":"crossref","first-page":"9046","DOI":"10.1128\/JVI.76.18.9046-9059.2002","article-title":"Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations","volume":"76","author":"Jiang","year":"2002","journal-title":"J Virol"},{"key":"10.1086\/425985_bib12","doi-asserted-by":"crossref","first-page":"3897","DOI":"10.1182\/blood-2003-11-4026","article-title":"Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia","volume":"103","author":"Jiang","year":"2004","journal-title":"Blood"},{"key":"10.1086\/425985_bib13","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1086\/378206","article-title":"Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3","volume":"73","author":"Keeler","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1086\/425985_bib14","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1136\/jmg.2003.014787","article-title":"Homozygosity mapping of a third Joubert syndrome locus to 6q23","volume":"41","author":"Lagier-Tourenne","year":"2004","journal-title":"J Med Genet"},{"key":"10.1086\/425985_bib15","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1177\/088307389701200703","article-title":"\u201cJoubert syndrome\u201d revisited: key ocular motor signs with magnetic resonance imaging correlation","volume":"12","author":"Maria","year":"1997","journal-title":"J Child Neurol"},{"key":"10.1086\/425985_bib16","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1038\/26006","article-title":"Cloning of inv, a gene that controls left\/right asymmetry and kidney development","volume":"395","author":"Mochizuki","year":"1998","journal-title":"Nature"},{"key":"10.1086\/425985_bib17","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/ng1217","article-title":"Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination","volume":"34","author":"Otto","year":"2003","journal-title":"Nat Genet"},{"key":"10.1086\/425985_bib18","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1086\/421846","article-title":"The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome","volume":"75","author":"Parisi","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1086\/425985_bib19","first-page":"298","article-title":"Bilateral fronto-occipital polymicrogyria and epilepsy","volume":"11","author":"Ribacoba Montero","year":"2002","journal-title":"Seizure Suppl"},{"key":"10.1086\/425985_bib20","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1086\/302655","article-title":"Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity","volume":"65","author":"Saar","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/425985_bib21","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1002\/ajmg.1320430415","article-title":"Joubert syndrome: a review","volume":"43","author":"Saraiva","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1086\/425985_bib22","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<459::AID-AJMG12>3.0.CO;2-C","article-title":"Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome","volume":"86","author":"Satran","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1086\/425985_bib23","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1086\/378241","article-title":"Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation","volume":"73","author":"Valente","year":"2003","journal-title":"Am J Hum Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707600664?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707600664?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,2]],"date-time":"2019-02-02T14:21:46Z","timestamp":1549117306000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707600664"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12]]},"references-count":19,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,12]]}},"alternative-id":["S0002929707600664"],"URL":"https:\/\/doi.org\/10.1086\/425985","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2004,12]]}}}