{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T14:57:16Z","timestamp":1789570636179,"version":"build-2803163510"},"reference-count":36,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2006,12,1]],"date-time":"2006-12-01T00:00:00Z","timestamp":1164931200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2006,12,1]],"date-time":"2006-12-01T00:00:00Z","timestamp":1164931200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["ajo.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Ophthalmology"],"published-print":{"date-parts":[[2006,12]]},"DOI":"10.1016\/j.ajo.2006.07.054","type":"journal-article","created":{"date-parts":[[2006,9,2]],"date-time":"2006-09-02T07:22:12Z","timestamp":1157181732000},"page":"993-1004.e2","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":55,"title":["Genotype and Phenotype Correlations in Congenital Glaucoma: CYP1B1 Mutations, Goniodysgenesis, and Clinical Characteristics"],"prefix":"10.1016","volume":"142","author":[{"given":"David A.","family":"Hollander","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mansoor","family":"Sarfarazi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivaylo","family":"Stoilov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irmgard S.","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas R.","family":"Fredrick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge A.","family":"Alvarado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajo.2006.07.054_bib1","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1159\/000309028","article-title":"Congenital glaucoma and its inheritance","volume":"181","author":"Francois","year":"1980","journal-title":"Ophthalmologica"},{"key":"10.1016\/j.ajo.2006.07.054_bib2","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1007\/BF00296440","article-title":"Population genetical aspects of primary congenital glaucoma","volume":"61","author":"Gencik","year":"1982","journal-title":"Hum Genet"},{"key":"10.1016\/j.ajo.2006.07.054_bib3","series-title":"Ophthalmology Annual","first-page":"15","article-title":"Care of the infantile glaucoma patient","author":"Jaffar","year":"1988"},{"key":"10.1016\/j.ajo.2006.07.054_bib4","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1016\/S0031-3955(16)38592-3","article-title":"Glaucoma in children","volume":"40","author":"Wagner","year":"1993","journal-title":"Pediatr Clin North Am"},{"key":"10.1016\/j.ajo.2006.07.054_bib5","first-page":"76","article-title":"Epidemiology and genetics of primary congenital glaucoma in Slovakia","volume":"16","author":"Gencik","year":"1989","journal-title":"Dev Ophthalmol"},{"key":"10.1016\/j.ajo.2006.07.054_bib6","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":"10.1016\/j.ajo.2006.07.054_bib7","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":"30","author":"Sarfarazi","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/j.ajo.2006.07.054_bib8","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":"10.1016\/j.ajo.2006.07.054_bib9","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1093\/hmg\/6.4.641","article-title":"Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to GLC3A locus on chromosome 2p21","volume":"6","author":"Stoilov","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajo.2006.07.054_bib10","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1177\/002215540104900210","article-title":"In situ hybridization and immunohistochemical analysis of cytochrome P450 1B1 expression in human normal tissues","volume":"49","author":"Muskhelishvili","year":"2001","journal-title":"J Histochem Cytochem"},{"key":"10.1016\/j.ajo.2006.07.054_bib11","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1086\/301764","article-title":"Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1","volume":"62","author":"Stoilov","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ajo.2006.07.054_bib12","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":"10.1016\/j.ajo.2006.07.054_bib13","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1038\/eye.2000.126","article-title":"Molecular genetics of primary congenital glaucoma","volume":"14","author":"Sarfarazi","year":"2000","journal-title":"Eye"},{"key":"10.1016\/j.ajo.2006.07.054_bib14","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1097\/00008571-200112000-00007","article-title":"Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism","volume":"11","author":"Jansson","year":"2001","journal-title":"Pharmacogenetics"},{"key":"10.1016\/j.ajo.2006.07.054_bib15","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/S0076-6879(96)72037-2","article-title":"Structural alignments of P450s and extrapolations to the unknown","volume":"272","author":"Graham-Lorence","year":"1996","journal-title":"Methods Enzymol"},{"key":"10.1016\/j.ajo.2006.07.054_bib16","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1167\/iovs.03-0404","article-title":"Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma","volume":"45","author":"Panicker","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajo.2006.07.054_bib17","first-page":"507","article-title":"The pathogenesis of congenital glaucoma: a new theory","volume":"56","author":"Maumenee","year":"1958","journal-title":"Trans Am Ophthalmol Soc"},{"key":"10.1016\/j.ajo.2006.07.054_bib18","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/0002-9394(80)90286-X","article-title":"The outflow pathway in congenital glaucoma","volume":"89","author":"Maul","year":"1980","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajo.2006.07.054_bib19","first-page":"458","article-title":"The development of the trabecular meshwork and its abnormality in primary infantile glaucoma","volume":"79","author":"Anderson","year":"1981","journal-title":"Trans Am Ophthalmol Soc"},{"key":"10.1016\/j.ajo.2006.07.054_bib20","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1016\/S0161-6420(84)34194-X","article-title":"Glaucoma in Sturge-Weber syndrome","volume":"91","author":"Cibis","year":"1984","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ajo.2006.07.054_bib21","doi-asserted-by":"crossref","first-page":"621C","DOI":"10.1152\/ajpcell.00108.2003","article-title":"Endothelia of Schlemm\u2019s canal and trabecular meshwork: distinct molecular, functional, and anatomic features","volume":"286","author":"Alvarado","year":"2004","journal-title":"Am J Physiol Cell Physiol"},{"key":"10.1016\/j.ajo.2006.07.054_bib22","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1016\/S0161-6420(84)34248-8","article-title":"Trabecular meshwork cellularity in primary open-angle glaucoma and nonglaucomatous normals","volume":"91","author":"Alvarado","year":"1984","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ajo.2006.07.054_bib23","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1111\/j.1442-9071.1989.tb00490.x","article-title":"Spontaneous resolution of primary congenital glaucoma","volume":"17","author":"Lockie","year":"1989","journal-title":"Aust N Z J Ophthalmol"},{"key":"10.1016\/j.ajo.2006.07.054_bib24","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1055\/s-2008-1055199","article-title":"Riegers\u2019 anomaly with signs of hydrophthalmia and spontaneous pressure regulation","volume":"181","author":"Grehn","year":"1982","journal-title":"Klin Monatsbl Augenheilkd"},{"key":"10.1016\/j.ajo.2006.07.054_bib25","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/0002-9394(81)90644-9","article-title":"Developmental immaturity of the trabecular meshwork in congenital glaucoma","volume":"92","author":"Tawara","year":"1981","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajo.2006.07.054_bib26","series-title":"Histology of the human eye","first-page":"112","author":"Hogan","year":"1971"},{"key":"10.1016\/j.ajo.2006.07.054_bib27","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/j.exer.2005.10.011","article-title":"What controls aqueous humour outflow resistance?","volume":"82","author":"Johnson","year":"2006","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.ajo.2006.07.054_bib28","first-page":"1820","article-title":"Molecular genetics of primary congenital glaucoma in Brazil","volume":"43","author":"Stoilov","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajo.2006.07.054_bib29","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1093\/oxfordjournals.jbchem.a124232","article-title":"Importance of the proline-rich region following signal-anchor sequence in the formation of correct conformation of microsomal cytochrome P-450s","volume":"114","author":"Yamazaki","year":"1993","journal-title":"J Biochem (Tokyo)"},{"key":"10.1016\/j.ajo.2006.07.054_bib30","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1097\/00061198-200108000-00017","article-title":"Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene","volume":"10","author":"Michels-Rautenstrauss","year":"2001","journal-title":"J Glaucoma"},{"key":"10.1016\/j.ajo.2006.07.054_bib31","first-page":"1358","article-title":"Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees","volume":"43","author":"Panicker","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajo.2006.07.054_bib32","doi-asserted-by":"crossref","first-page":"9776","DOI":"10.1073\/pnas.93.18.9776","article-title":"17 beta-estradiol hydroxylation catalyzed by cytochrome P450 1B1","volume":"93","author":"Hayes","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.ajo.2006.07.054_bib33","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/S0090-9556(24)15367-6","article-title":"Biosynthesis of all-trans-retinoic acid from all-trans-retinol: catalysis of all-trans-retinol oxidation by human P-450 cytochromes","volume":"28","author":"Chen","year":"2000","journal-title":"Drug Metab Dispos"},{"key":"10.1016\/j.ajo.2006.07.054_bib34","first-page":"2211","article-title":"Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma","volume":"42","author":"Mashima","year":"2001","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajo.2006.07.054_bib35","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1001\/archopht.116.8.1102","article-title":"Toward understanding the optic neuropathy of glaucoma","volume":"116","author":"Weinreb","year":"1998","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajo.2006.07.054_bib36","doi-asserted-by":"crossref","first-page":"1540","DOI":"10.1001\/archopht.117.11.1540","article-title":"Is neuroprotection a viable therapy for glaucoma?","volume":"117","author":"Weinreb","year":"1999","journal-title":"Arch Ophthalmol"}],"container-title":["American Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000293940600907X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000293940600907X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T12:52:53Z","timestamp":1757595173000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000293940600907X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12]]},"references-count":36,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["S000293940600907X"],"URL":"https:\/\/doi.org\/10.1016\/j.ajo.2006.07.054","relation":{},"ISSN":["0002-9394"],"issn-type":[{"value":"0002-9394","type":"print"}],"subject":[],"published":{"date-parts":[[2006,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genotype and Phenotype Correlations in Congenital Glaucoma: CYP1B1 Mutations, Goniodysgenesis, and Clinical Characteristics","name":"articletitle","label":"Article Title"},{"value":"American Journal of Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajo.2006.07.054","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2006 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}