-
1
-
-
0029980777
-
Number of people with glaucoma worldwide
-
Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol 1996; 80: 389-93.
-
(1996)
Br J Ophthalmol
, vol.80
, pp. 389-393
-
-
Quigley, H.A.1
-
2
-
-
0344889215
-
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
-
Fingert JH, Heon E, Liebmann JM etal. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999; 8: 899-905.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 899-905
-
-
Fingert, J.H.1
Heon, E.2
Liebmann, J.M.3
-
3
-
-
20144382615
-
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1
-
Monemi S, Spaeth G, DaSilva A etal. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 2005; 14: 725-33.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 725-733
-
-
Monemi, S.1
Spaeth, G.2
DaSilva, A.3
-
4
-
-
18244385269
-
Adult-onset primary open-angle glaucoma caused by mutations in optineurin
-
Rezaie T, Child A, Hitchings R etal. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002; 295: 1077-9.
-
(2002)
Science
, vol.295
, pp. 1077-1079
-
-
Rezaie, T.1
Child, A.2
Hitchings, R.3
-
5
-
-
14444283397
-
Identification of a gene that causes primary open angle glaucoma [see comments]
-
Stone EM, Fingert JH, Alward WLM etal. Identification of a gene that causes primary open angle glaucoma [see comments]. Science 1997; 275: 668-70.
-
(1997)
Science
, vol.275
, pp. 668-670
-
-
Stone, E.M.1
Fingert, J.H.2
Alward, W.L.M.3
-
6
-
-
0030942553
-
Identification of three 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
-
Stoilov I, An A, Sarfarazi M. Identification of three 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. Hum Mol Genet 1997; 6: 641-7.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 641-647
-
-
Stoilov, I.1
An, A.2
Sarfarazi, M.3
-
7
-
-
0036157114
-
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene
-
Vincent AL, Billingsley G, Buys Y etal. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 2002; 70: 448-60.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 448-460
-
-
Vincent, A.L.1
Billingsley, G.2
Buys, Y.3
-
8
-
-
0041784449
-
Progress in the genetics of glaucoma
-
Weisschuh N, Schiefer U. Progress in the genetics of glaucoma. Dev Ophthalmol 2003; 37: 83-93.
-
(2003)
Dev Ophthalmol
, vol.37
, pp. 83-93
-
-
Weisschuh, N.1
Schiefer, U.2
-
9
-
-
0036821466
-
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco
-
Belmouden A, Melki R, Hamdani M etal. A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. Clin Genet 2002; 62: 334-9.
-
(2002)
Clin Genet
, vol.62
, pp. 334-339
-
-
Belmouden, A.1
Melki, R.2
Hamdani, M.3
-
10
-
-
1942522732
-
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France
-
Colomb E, Kaplan J, Garchon HJ. Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum Mutat 2003; 22: 496.
-
(2003)
Hum Mutat
, vol.22
, pp. 496
-
-
Colomb, E.1
Kaplan, J.2
Garchon, H.J.3
-
11
-
-
33745925304
-
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma
-
Lopez-Garrido MP, Sanchez-Sanchez F, Lopez-Martinez F etal. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 2006; 12: 748-55.
-
(2006)
Mol Vis
, vol.12
, pp. 748-755
-
-
Lopez-Garrido, M.P.1
Sanchez-Sanchez, F.2
Lopez-Martinez, F.3
-
12
-
-
1642602458
-
Molecular characterization of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma-related blindness
-
Martin S, Sutherland J, Levin A, Klose R, Priston R, Heon E. Molecular characterization of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma-related blindness. J Med Genet 2000; 37: 422-7.
-
(2000)
J Med Genet
, vol.37
, pp. 422-427
-
-
Martin, S.1
Sutherland, J.2
Levin, A.3
Klose, R.4
Priston, R.5
Heon, E.6
-
13
-
-
4444315011
-
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma
-
Melki R, Colomb E, Lefort N, Brezin AP, Garchon HJ. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet 2004; 41: 647-51.
-
(2004)
J Med Genet
, vol.41
, pp. 647-651
-
-
Melki, R.1
Colomb, E.2
Lefort, N.3
Brezin, A.P.4
Garchon, H.J.5
-
14
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S, Dykes D, Polesky H. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.1
Dykes, D.2
Polesky, H.3
-
15
-
-
33645860816
-
Primary role of CYP1B1 in Indian juvenile-onset POAG patients
-
Acharya M, Mookherjee S, Bhattacharjee A etal. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 2006; 12: 399-404.
-
(2006)
Mol Vis
, vol.12
, pp. 399-404
-
-
Acharya, M.1
Mookherjee, S.2
Bhattacharjee, A.3
-
16
-
-
0142195787
-
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
-
Alward WL, Kwon YH, Kawase K etal. Evaluation of optineurin sequence variations in 1, 048 patients with open-angle glaucoma. Am J Ophthalmol 2003; 136: 904-10.
-
(2003)
Am J Ophthalmol
, vol.136
, pp. 904-910
-
-
Alward, W.L.1
Kwon, Y.H.2
Kawase, K.3
-
17
-
-
8644259362
-
Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study
-
Baird PN, Richardson AJ, Craig JE, Mackey DA, Rochtchina E, Mitchell P. Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study. Clin Experiment Ophthalmol 2004; 32: 518-22.
-
(2004)
Clin Experiment Ophthalmol
, vol.32
, pp. 518-522
-
-
Baird, P.N.1
Richardson, A.J.2
Craig, J.E.3
Mackey, D.A.4
Rochtchina, E.5
Mitchell, P.6
-
18
-
-
33947238222
-
No association between variations in the WDR36 gene and primary open-angle glaucoma
-
Fingert JH, Alward WL, Kwon YH etal. No association between variations in the WDR36 gene and primary open-angle glaucoma. Arch Ophthalmol 2007; 125: 434-6.
-
(2007)
Arch Ophthalmol
, vol.125
, pp. 434-436
-
-
Fingert, J.H.1
Alward, W.L.2
Kwon, Y.H.3
-
19
-
-
33746293357
-
A glaucoma. Case-control study of the WDR36 gene D658G sequence variant
-
Hewitt AW, Dimasi DP, Mackey DA, Craig JE. A glaucoma. Case-control study of the WDR36 gene D658G sequence variant. Am J Ophthalmol 2006; 142: 324-5.
-
(2006)
Am J Ophthalmol
, vol.142
, pp. 324-325
-
-
Hewitt, A.W.1
Dimasi, D.P.2
Mackey, D.A.3
Craig, J.E.4
-
20
-
-
35448974197
-
Association between primary open-angle glaucoma and WDR36 DNA sequence variants in Japanese
-
Miyazawa A, Fuse N, Mengkegale M etal. Association between primary open-angle glaucoma and WDR36 DNA sequence variants in Japanese. Mol Vis 2007; 13: 1912-19.
-
(2007)
Mol Vis
, vol.13
, pp. 1912-1919
-
-
Miyazawa, A.1
Fuse, N.2
Mengkegale, M.3
-
22
-
-
33745672351
-
Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma
-
Hauser MA, Allingham RR, Linkroum K etal. Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2006; 47: 2542-6.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 2542-2546
-
-
Hauser, M.A.1
Allingham, R.R.2
Linkroum, K.3
-
23
-
-
34248212139
-
Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients
-
Kumar A, Basavaraj MG, Gupta SK etal. Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. Mol Vis 2007; 13: 667-76.
-
(2007)
Mol Vis
, vol.13
, pp. 667-676
-
-
Kumar, A.1
Basavaraj, M.G.2
Gupta, S.K.3
-
24
-
-
75749114183
-
Heterozygous loss of function variants in CYP1B1 predispose to primary open angle glaucoma
-
Pasutto F, Chavarria-Soley G, Mardin CY etal. Heterozygous loss of function variants in CYP1B1 predispose to primary open angle glaucoma. Invest Ophthalmol Vis Sci 2009; 51: 249-54.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 249-254
-
-
Pasutto, F.1
Chavarria-Soley, G.2
Mardin, C.Y.3
-
25
-
-
0036240676
-
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees
-
Panicker SG, Reddy AB, Mandal AK etal. Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. Invest Ophthalmol Vis Sci 2002; 43: 1358-66.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 1358-1366
-
-
Panicker, S.G.1
Reddy, A.B.2
Mandal, A.K.3
-
26
-
-
0141765727
-
Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients
-
Reddy AB, Panicker SG, Mandal AK, Hasnain SE, Balasubramanian D. Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. Invest Ophthalmol Vis Sci 2003; 44: 4200-3.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 4200-4203
-
-
Reddy, A.B.1
Panicker, S.G.2
Mandal, A.K.3
Hasnain, S.E.4
Balasubramanian, D.5
-
27
-
-
38549084181
-
Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes
-
Chakrabarti S, Devi KR, Komatireddy S etal. Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. Invest Ophthalmol Vis Sci 2007; 48: 5439-44.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 5439-5444
-
-
Chakrabarti, S.1
Devi, K.R.2
Komatireddy, S.3
-
28
-
-
67650093875
-
Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients
-
Tanwar M, Dada T, Sihota R, Das TK, Yadav U, Dada R. Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients. Mol Vis 2009; 15: 1200-9.
-
(2009)
Mol Vis
, vol.15
, pp. 1200-1209
-
-
Tanwar, M.1
Dada, T.2
Sihota, R.3
Das, T.K.4
Yadav, U.5
Dada, R.6
-
29
-
-
55749105894
-
Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma
-
Choudhary D, Jansson I, Sarfarazi M, Schenkman JB. Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. Pharmacogenet Genomics 2008; 18: 665-76.
-
(2008)
Pharmacogenet Genomics
, vol.18
, pp. 665-676
-
-
Choudhary, D.1
Jansson, I.2
Sarfarazi, M.3
Schenkman, J.B.4
-
30
-
-
61849142774
-
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability
-
Campos-Mollo E, Lopez-Garrido MP, Blanco-Marchite C etal. CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Mol Vis 2009; 15: 417-31.
-
(2009)
Mol Vis
, vol.15
, pp. 417-431
-
-
Campos-Mollo, E.1
Lopez-Garrido, M.P.2
Blanco-Marchite, C.3
-
31
-
-
73049105367
-
Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma
-
Lopez-Garrido MP, Blanco-Marchite C, Sanchez-Sanchez F etal. Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma. Clin Genet 2010; 77: 70-8.
-
(2010)
Clin Genet
, vol.77
, pp. 70-78
-
-
Lopez-Garrido, M.P.1
Blanco-Marchite, C.2
Sanchez-Sanchez, F.3
-
32
-
-
0035039383
-
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly
-
Vincent AL, Billingsley G, Priston M etal. Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J Med Genet 2001; 38: 324-6.
-
(2001)
J Med Genet
, vol.38
, pp. 324-326
-
-
Vincent, A.L.1
Billingsley, G.2
Priston, M.3
-
33
-
-
34548694283
-
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
-
Thorleifsson G, Magnusson KP, Sulem P etal. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007; 317: 1397-400.
-
(2007)
Science
, vol.317
, pp. 1397-1400
-
-
Thorleifsson, G.1
Magnusson, K.P.2
Sulem, P.3
-
34
-
-
77955634769
-
Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population
-
Williams SE, Whigham BT, Liu Y etal. Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population. Mol Vis 2010; 16: 705-12.
-
(2010)
Mol Vis
, vol.16
, pp. 705-712
-
-
Williams, S.E.1
Whigham, B.T.2
Liu, Y.3
-
35
-
-
39749149076
-
Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people
-
Hewitt AW, Sharma S, Burdon KP etal. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum Mol Genet 2008; 17: 710-16.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 710-716
-
-
Hewitt, A.W.1
Sharma, S.2
Burdon, K.P.3
-
36
-
-
73649181363
-
Pseudoexfoliation of the lens capsule. A clinical study of 418 patients with special reference to glaucoma, cataract, and changes of the vitreous
-
Suppl.
-
Tarkkanen A. Pseudoexfoliation of the lens capsule. A clinical study of 418 patients with special reference to glaucoma, cataract, and changes of the vitreous. Acta Ophthalmol Suppl 1962; (Suppl. 71): 1-98.
-
(1962)
Acta Ophthalmol Suppl
, Issue.71
, pp. 1-98
-
-
Tarkkanen, A.1
-
37
-
-
85007179227
-
Mutation screening of the CYP1B1 gene and phenotype-genotype correlation in primary congenital glaucoma cases from Brazil
-
Stoilov IR, Costa VP, Vasconellos JPC etal. Mutation screening of the CYP1B1 gene and phenotype-genotype correlation in primary congenital glaucoma cases from Brazil. Invest Ophthalmol Vis Sci 2001; 41: A2848.
-
(2001)
Invest Ophthalmol Vis Sci
, vol.41
-
-
Stoilov, I.R.1
Costa, V.P.2
Vasconellos, J.P.C.3
-
38
-
-
78149479800
-
Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma
-
Burdon KP, Hewitt AW, Mackey DA, Mitchell P, Craig JE. Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma. Mol Vis 2010; 16: 2286-93.
-
(2010)
Mol Vis
, vol.16
, pp. 2286-2293
-
-
Burdon, K.P.1
Hewitt, A.W.2
Mackey, D.A.3
Mitchell, P.4
Craig, J.E.5
-
39
-
-
77950810499
-
Incidence and clinical characteristics of childhood glaucoma: a population-based study
-
Aponte EP, Diehl N, Mohney BG. Incidence and clinical characteristics of childhood glaucoma: a population-based study. Arch Ophthalmol 2010; 128: 478-82.
-
(2010)
Arch Ophthalmol
, vol.128
, pp. 478-482
-
-
Aponte, E.P.1
Diehl, N.2
Mohney, B.G.3
-
40
-
-
0034234293
-
Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity
-
Hanna IH, Dawling S, Roodi N, Guengerich FP, Parl FF. Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res 2000; 60: 3440-4.
-
(2000)
Cancer Res
, vol.60
, pp. 3440-3444
-
-
Hanna, I.H.1
Dawling, S.2
Roodi, N.3
Guengerich, F.P.4
Parl, F.F.5
-
41
-
-
0032867995
-
Catalytic properties of polymorphic human cytochrome P450 1B1 variants
-
Shimada T, Watanabe J, Kawajiri K etal. Catalytic properties of polymorphic human cytochrome P450 1B1 variants. Carcinogenesis 1999; 20: 1607-13.
-
(1999)
Carcinogenesis
, vol.20
, pp. 1607-1613
-
-
Shimada, T.1
Watanabe, J.2
Kawajiri, K.3
-
42
-
-
0034526629
-
Human CYP1B1 Leu432Val gene polymorphism: ethnic distribution in African-Americans, Caucasians and Chinese; oestradiol hydroxylase activity; and distribution in prostate cancer cases and controls
-
Tang YM, Green BL, Chen GF etal. Human CYP1B1 Leu432Val gene polymorphism: ethnic distribution in African-Americans, Caucasians and Chinese; oestradiol hydroxylase activity; and distribution in prostate cancer cases and controls. Pharmacogenetics 2000; 10: 761-6.
-
(2000)
Pharmacogenetics
, vol.10
, pp. 761-766
-
-
Tang, Y.M.1
Green, B.L.2
Chen, G.F.3
-
43
-
-
44149120064
-
Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma
-
Bhattacharjee A, Banerjee D, Mookherjee S etal. Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. Mol Vis 2008; 14: 841-50.
-
(2008)
Mol Vis
, vol.14
, pp. 841-850
-
-
Bhattacharjee, A.1
Banerjee, D.2
Mookherjee, S.3
|