{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T02:47:04Z","timestamp":1791254824188,"version":"4.1.0"},"reference-count":22,"publisher":"Hindawi Limited","issue":"10","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1147,"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":[[2012,10]]},"DOI":"10.1002\/humu.22134","type":"journal-article","created":{"date-parts":[[2012,6,12]],"date-time":"2012-06-12T21:19:19Z","timestamp":1339535959000},"page":"1423-1428","source":"Crossref","is-referenced-by-count":50,"title":["Molecular characterization of Joubert syndrome in Saudi Arabia"],"prefix":"10.1155","volume":"33","author":[{"given":"Anas M.","family":"Alazami","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muneera J.","family":"Alshammari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa A.","family":"Salih","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatema","family":"Alzahrani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadia","family":"Hijazi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed Z.","family":"Seidahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leen","family":"Abu Safieh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mazhor","family":"Aldosary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arif O.","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2012,7,11]]},"reference":[{"key":"10.1002\/humu.22134-BIB1|cit1","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1038\/ejhg.2011.205","article-title":"In search of triallelism in Bardet-Biedl syndrome","volume":"20","author":"Abu-Safieh","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22134-BIB2|cit2","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1136\/jmg.2009.070755","article-title":"Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping","volume":"47","author":"Abu Safieh","year":"2010","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22134-BIB3|cit3","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1097\/GIM.0b013e3181ceb95d","article-title":"Homozygosity mapping: one more tool in the clinical geneticist's toolbox","volume":"12","author":"Alkuraya","year":"2010","journal-title":"Genet Med"},{"key":"10.1002\/humu.22134-BIB4|cit4","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1055\/s-0028-1091505","article-title":"Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis","volume":"8","author":"Boltshauser","year":"1977","journal-title":"Neuropadiatrie"},{"key":"10.1002\/humu.22134-BIB5|cit5","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1086\/425985","article-title":"Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria","volume":"75","author":"Dixon-Salazar","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22134-BIB5a|cit6","unstructured":""},{"key":"10.1002\/humu.22134-BIB6|cit7","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/ng.891","article-title":"A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition","volume":"43","author":"Garcia-Gonzalo","year":"2011","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22134-BIB7|cit8","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1212\/WNL.19.9.813","article-title":"Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation","volume":"19","author":"Joubert","year":"1969","journal-title":"Neurology"},{"key":"10.1002\/humu.22134-BIB8|cit9","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":"10.1002\/humu.22134-BIB9|cit10","doi-asserted-by":"crossref","first-page":"2286","DOI":"10.1016\/j.ophtha.2008.08.005","article-title":"Ophthalmic features of Joubert syndrome","volume":"115","author":"Khan","year":"2008","journal-title":"Ophthalmology"},{"key":"10.1002\/humu.22134-BIB10|cit11","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":"10.1002\/humu.22134-BIB11|cit12","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.nbd.2009.12.022","article-title":"The role of primary cilia in neuronal function","volume":"38","author":"Lee","year":"2010","journal-title":"Neurobiol Dis"},{"key":"10.1002\/humu.22134-BIB12|cit13","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1177\/088307389901400906","article-title":"Clinical features and revised diagnostic criteria in Joubert syndrome","volume":"14","author":"Maria","year":"1999","journal-title":"J Child Neurol"},{"key":"10.1002\/humu.22134-BIB13|cit14","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":"10.1002\/humu.22134-BIB14|cit15","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1136\/jmg.2010.082552","article-title":"Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy","volume":"48","author":"Otto","year":"2011","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22134-BIB15|cit16","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1177\/088307389901401002","article-title":"Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome","volume":"14","author":"Quisling","year":"1999","journal-title":"J Child Neurol"},{"key":"10.1002\/humu.22134-BIB16|cit17","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":"10.1002\/humu.22134-BIB17|cit18","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/j.cell.2011.04.019","article-title":"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways","volume":"145","author":"Sang","year":"2011","journal-title":"Cell"},{"key":"10.1002\/humu.22134-BIB17a|cit19","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1038\/ng1786","article-title":"The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4","volume":"38","author":"Sayer","year":"2006","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22134-BIB18|cit20","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1111\/j.1399-0004.2010.01498.x","article-title":"Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs","volume":"79","author":"Shaheen","year":"2011a","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22134-BIB19|cit21","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/humu.21507","article-title":"A TCTN2 mutation defines a novel Meckel Gruber syndrome locus","volume":"32","author":"Shaheen","year":"2011b","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22134-BIB20|cit22","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.ajhg.2012.02.011","article-title":"Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population","volume":"90","author":"Srour","year":"2012","journal-title":"Am J Hum Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22134","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.22134","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:52:50Z","timestamp":1672332770000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22134"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,11]]},"references-count":22,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22134","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2012,7,11]]}}}