{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T10:20:34Z","timestamp":1786443634987,"version":"build-2736575974"},"reference-count":13,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,1]]},"DOI":"10.1097\/ijg.0b013e3181a98b6f","type":"journal-article","created":{"date-parts":[[2010,1,8]],"date-time":"2010-01-08T08:46:12Z","timestamp":1262940372000},"page":"35-38","source":"Crossref","is-referenced-by-count":13,"title":["Congenital Glaucoma"],"prefix":"10.1097","volume":"19","author":[{"given":"Udy","family":"Bar-Yosef","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime","family":"Levy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalil","family":"Elbedour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rivka","family":"Ofir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rivka","family":"Carmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ohad S.","family":"Birk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-8-20210208","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1126\/science.1066901","article-title":"Adult-onset primary open-angle glaucoma caused by mutations in optineurin","volume":"295","author":"Rezaie","year":"2002","journal-title":"Science"},{"key":"R2-8-20210208","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.exer.2007.10.021","article-title":"Focus on molecules: optineurin","volume":"87","author":"Chalasani","year":"2008","journal-title":"Exp Eye Res"},{"key":"R3-8-20210208","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1086\/421533","article-title":"A genome wide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12","volume":"74","author":"Wiggs","year":"2004","journal-title":"Am J Hum Genet"},{"key":"R4-8-20210208","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1006\/geno.1995.9888","article-title":"Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity","volume":"20","author":"Sarfarazi","year":"1995","journal-title":"Genomics"},{"key":"R5-8-20210208","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1093\/hmg\/5.8.1199","article-title":"A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region","volume":"5","author":"Akarsu","year":"1996","journal-title":"Hum Mol Genet"},{"key":"R6-8-20210208","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/S0031-6997(25)00021-3","article-title":"The molecular biology of cytochrome P450s","volume":"40","author":"Gonzalez","year":"1988","journal-title":"Pharmacol Rev"},{"key":"R7-8-20210208","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/0960-0760(94)90037-X","article-title":"The effects of 2,3,7,8-tetrachlorodibenzo-p-dioxin on estrogen metabolism in MCF-7 breast cancer cells: evidence for induction of a novel 17 beta-estradiol 4-hydroxylase","volume":"51","author":"Spink","year":"1994","journal-title":"J Steroid Biochem Mol Biol"},{"key":"R8-8-20210208","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1086\/301725","article-title":"Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia","volume":"62","author":"Bejjani","year":"1998","journal-title":"Am J Hum Genet"},{"key":"R9-8-20210208","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/sj.ejhg.5201087","article-title":"Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation","volume":"12","author":"Harel","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"R10-8-20210208","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1093\/hmg\/9.3.367","article-title":"Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus","volume":"9","author":"Bejjani","year":"2000","journal-title":"Hum Mol Genet"},{"key":"R11-8-20210208","first-page":"876","article-title":"Primary congenital glaucoma: a review","volume":"143","author":"Levy","year":"2004","journal-title":"Harefuah"},{"key":"R12-8-20210208","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1097\/01.ijg.0000151685.12033.04","article-title":"Primary congenital glaucoma presenting within the first three months of life: prognostic factors","volume":"14","author":"Levy","year":"2005","journal-title":"J Glaucoma"},{"key":"R13-8-20210208","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1002\/humu.20786","article-title":"Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme","volume":"29","author":"Chavarria-Soley","year":"2008","journal-title":"Hum Mutat"}],"container-title":["Journal of Glaucoma"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.lww.com\/00061198-201001000-00008","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,16]],"date-time":"2025-02-16T15:52:38Z","timestamp":1739721158000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00061198-201001000-00008"}},"subtitle":["CYP1B1 Mutations in Israeli Bedouin Kindreds"],"short-title":[],"issued":{"date-parts":[[2010,1]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010]]}},"URL":"https:\/\/doi.org\/10.1097\/ijg.0b013e3181a98b6f","relation":{},"ISSN":["1057-0829"],"issn-type":[{"value":"1057-0829","type":"print"}],"subject":[],"published":{"date-parts":[[2010,1]]}}}