| 1 | CYP1B1, GLC3A
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| Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
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| Reis LM, Tyler RC, Weh E, Hendee KE, Kariminejad A, Abdul-Rahman O, Ben-Omran T, Manning MA, Yesilyurt A, McCarty CA, Kitchner TE, Costakos D, Semina EV.
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| Mol Vis Oct 17;22:1229-1238. eCollection 2016. 2016
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| 2 | CYP1B1, GLC3A
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| A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma.
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| Chakrabarti S, Ghanekar Y, Kaur K, Kaur I, Mandal AK, Rao KN, Parikh RS, Thomas R, Majumder PP.
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| Hum Mol Genet 19(20):4083-90. Epub 2010 Jul 21.
2010
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| 3 | CYP1B1, GLC1A, GLC3A, MYOC
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| Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.
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| Chen X, Yan N, Yun H, Sun J, Yu M, Zhou J, Cao G, Yin H, Li M, Liu X.
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| Mol Vis 15:1530-6.
2009
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| 4 | CYP1B1, GLC3A
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| Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.
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| Chavarria-Soley G, Sticht H, Aklillu E, Ingelman-Sundberg M, Pasutto F, Reis A, Rautenstrauss B.
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| Hum Mutat 29(9):1147-53.
2008
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| 5 | CYP1B1, GLC3A
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| A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).
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| El-Ashry MF, Abd El-Aziz MM, Bhattacharya SS.
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| J Glaucoma 16(1):104-11. 2007
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| 6 | CYP1B1, GLC3A
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| Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.
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| Dimasi D, Hewitt A, Straga T, Pater J, Mackinnon J, Elder J, Casey T, Mackey D, Craig J.
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| Clin Genet 72(3):255-260. 2007
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| 7 | CYP1B1, GLC3A
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| Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma.
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| Messina-Baas OM, González-Huerta LM, Chima-Galán C, Kofman-Alfaro SH, Rivera-Vega MR, Babayán-Mena I, Cuevas-Covarrubias SA.
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| Ophthalmic Res 39(1):17-23. Epub 2006 Dec 11. 2007
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| 8 | CYP1B1, GLC1A, GLC1E, GLC3A, MYOC, OPTN
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| Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.
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| Kumar A, Basavaraj MG, Gupta SK, Qamar I, Ali AM, Bajaj V, Ramesh TK, Prakash DR, Shetty JS, Dorairaj SK.
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| Mol Vis 13:667-76.
2007
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| 9 | CYP1B1, GLC3A
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| Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics.
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| Hollander DA, Sarfarazi M, Stoilov I, Wood IS, Fredrick DR, Alvarado JA.
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| Am J Ophthalmol 142(6):993-1004. Epub 2006 Sep 1. 2006
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| 10 | CYP1B1, GLC3A, PTA2
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| Phenotypic heterogeneity of CYP1B1 : mutations in a patient with Peters' anomaly.
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| Vincent A, Billingsley G, Priston M, Williams-Lyn D, Sutherland J, Glaser T, Oliver E, Walter MA, Heathcote G, Levin A, Hon E.
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| J Med Genet 38 : 324-326. 2001
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| 11 | CYP1B1, GLC3A
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| Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
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| Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR.
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| Hum Mol Genet 9(3):367-374 2000
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| 12 | CYP1B1, GLC3A
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| Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.
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| Plasilova M, et al.
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| J Med Genet 36(4):290-4. 1999
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| 13 | CYP1B1, GLC3A
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| A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primary infantile glaucoma.
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| Kakiuchi T, Isashiki Y, Nakao K, Sonoda S, Kimura K, Ohba N.
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| Am J Ophthalmol 128(3):370-2 1999
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| 14 | GLC3A
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| Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia.
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| Plasilova M, Ferakova E, Kadasi L, Polakova H, Gerinec A, Ott J, Ferak V.
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| Hum Hered 48(1):30-3. 1998
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| 15 | CYP1B1, GLC3A
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| Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
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| Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR.
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| Am J Hum Genet 62(2):325-33. 1998
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| 16 | GLC3A
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| 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.
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| Stoilov I, et al.
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| Am J Hum Genet 62 : 573-584. 1998
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| 17 | CYP1B1, GLC3A
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| Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.
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| Stoilov I, et al.
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| Hum Mol Genet 6 : 641-647. 1997
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| 18 | GLC3A
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| Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity.
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| Sarfarazi M, et al.
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| Genomics 30 : 171-177. 1995
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