-
1
-
-
79954621581
-
Glaucoma
-
Quigley HA. Glaucoma. Lancet. 2011;377:1367-1377.
-
(2011)
Lancet.
, vol.377
, pp. 1367-1377
-
-
Quigley, H.A.1
-
2
-
-
77956370875
-
Glaucoma: Genes, phenotypes, and new directions for therapy
-
Fan BJ, Wiggs JL. Glaucoma: genes, phenotypes, and new directions for therapy. J Clin Invest. 2010;120:3064-3072.
-
(2010)
J Clin Invest.
, vol.120
, pp. 3064-3072
-
-
Fan, B.J.1
Wiggs, J.L.2
-
4
-
-
84885022587
-
A population-based survey of the prevalence and types of glaucoma in central Iran: The Yazd eye study
-
Pakravan M, Yazdani S, Javadi MA, et al. A population-based survey of the prevalence and types of glaucoma in central Iran: the Yazd eye study. Ophthalmology. 2013;120:1977-1984.
-
(2013)
Ophthalmology.
, vol.120
, pp. 1977-1984
-
-
Pakravan, M.1
Yazdani, S.2
Javadi, M.A.3
-
5
-
-
0014870132
-
Primary open-angle glaucoma in adolescents and young adults
-
Goldwyn R, Waltman SR, Becker B. Primary open-angle glaucoma in adolescents and young adults. Arch Ophthalmol. 1970;84:579-582.
-
(1970)
Arch Ophthalmol.
, vol.84
, pp. 579-582
-
-
Goldwyn, R.1
Waltman, S.R.2
Becker, B.3
-
6
-
-
80051801918
-
Genetics of primary glaucoma
-
Khan AO. Genetics of primary glaucoma. Curr Opin Ophthalmol. 2011;22:347-355.
-
(2011)
Curr Opin Ophthalmol.
, vol.22
, pp. 347-355
-
-
Khan, A.O.1
-
7
-
-
0030965824
-
The genetics of primary open angle glaucoma
-
Booth A, Churchill A, Anwar R, Menage M, Markham A. The genetics of primary open angle glaucoma. Br J Ophthalmol. 1997;81:409-414.
-
(1997)
Br J Ophthalmol.
, vol.81
, pp. 409-414
-
-
Booth, A.1
Churchill, A.2
Anwar, R.3
Menage, M.4
Markham, A.5
-
8
-
-
33846109820
-
Genetic etiologies of glaucoma
-
Wiggs JL. Genetic etiologies of glaucoma. Arch Ophthalmol. 2007;125:30-37.
-
(2007)
Arch Ophthalmol.
, vol.125
, pp. 30-37
-
-
Wiggs, J.L.1
-
9
-
-
14444283397
-
Identification of a gene that causes primary open angle glaucoma
-
Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275: 668-670.
-
(1997)
Science.
, vol.275
, pp. 668-670
-
-
Stone, E.M.1
Fingert, J.H.2
Alward, W.L.3
-
10
-
-
18244385269
-
Adult-onset primary openangle glaucoma caused by mutations in optineurin
-
Rezaie T, Child A, Hitchings R, et al. Adult-onset primary openangle glaucoma caused by mutations in optineurin. Science. 2002;295:1077-1079.
-
(2002)
Science.
, vol.295
, pp. 1077-1079
-
-
Rezaie, T.1
Child, A.2
Hitchings, R.3
-
11
-
-
20144382615
-
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1
-
Monemi S, Spaeth G, DaSilva A, et al. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet. 2005;14:725-733.
-
(2005)
Hum Mol Genet.
, vol.14
, pp. 725-733
-
-
Monemi, S.1
Spaeth, G.2
DaSilva, A.3
-
12
-
-
63149192737
-
Glaucoma-associated WDR36 variants encode functional defects in a yeast model system
-
Footz TK, Johnson JL, Dubois S, Boivin N, Raymond V, Walter MA. Glaucoma-associated WDR36 variants encode functional defects in a yeast model system. Hum Mol Genet. 2009;18: 1276-1287.
-
(2009)
Hum Mol Genet.
, vol.18
, pp. 1276-1287
-
-
Footz, T.K.1
Johnson, J.L.2
Dubois, S.3
Boivin, N.4
Raymond, V.5
Walter, M.A.6
-
13
-
-
70350500461
-
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma
-
Pasutto F, Matsumoto T, Mardin CY, et al. Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet. 2009;85: 447-456.
-
(2009)
Am J Hum Genet.
, vol.85
, pp. 447-456
-
-
Pasutto, F.1
Matsumoto, T.2
Mardin, C.Y.3
-
14
-
-
84864534019
-
Association of OPA1 polymorphisms with NTG and HTG: A meta-analysis
-
Guo Y, Chen X, Zhang H, et al. Association of OPA1 polymorphisms with NTG and HTG: a meta-analysis. PloS One. 2012;7:e42387.
-
(2012)
PloS One.
, vol.7
-
-
Guo, Y.1
Chen, X.2
Zhang, H.3
-
15
-
-
0036461078
-
A major marker for normal tension glaucoma: Association with polymorphisms in the OPA1 gene
-
Aung T, Ocaka L, Ebenezer ND, et al. A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum Genet. 2002;110:52-56.
-
(2002)
Hum Genet.
, vol.110
, pp. 52-56
-
-
Aung, T.1
Ocaka, L.2
Ebenezer, N.D.3
-
17
-
-
84873930519
-
Contribution of the latent transforming growth factor-beta binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome
-
Jelodari-Mamaghani S, Haji-Seyed-Javadi R, Suri F, et al. Contribution of the latent transforming growth factor-beta binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome. Mol Vis. 2013;19: 333-347.
-
(2013)
Mol Vis.
, vol.19
, pp. 333-347
-
-
Jelodari-Mamaghani, S.1
Haji-Seyed-Javadi, R.2
Suri, F.3
-
18
-
-
79955983465
-
Primary open-angle glaucoma genes
-
Fingert JH. Primary open-angle glaucoma genes. Eye (Lond). 2011;25:587-595.
-
(2011)
Eye (Lond).
, vol.25
, pp. 587-595
-
-
Fingert, J.H.1
-
19
-
-
84881270622
-
Genetic susceptibility to primary angle closure glaucoma (PACG)
-
Shastry BS. Genetic susceptibility to primary angle closure glaucoma (PACG). Discov Med. 2013;15:17-22.
-
(2013)
Discov Med.
, vol.15
, pp. 17-22
-
-
Shastry, B.S.1
-
20
-
-
79960824875
-
Keeping an eye on myocilin: A complex molecule associated with primary openangle glaucoma susceptibility
-
Menaa F, Braghini CA, Vasconcellos JP, et al. Keeping an eye on myocilin: a complex molecule associated with primary openangle glaucoma susceptibility. Molecules. 2011;16:5402-5421.
-
(2011)
Molecules.
, vol.16
, pp. 5402-5421
-
-
Menaa, F.1
Braghini, C.A.2
Vasconcellos, J.P.3
-
21
-
-
33845496314
-
The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma
-
Mabuchi F, Tang S, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S. The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. Am J Ophthalmol. 2007;143:125-130.
-
(2007)
Am J Ophthalmol.
, vol.143
, pp. 125-130
-
-
Mabuchi, F.1
Tang, S.2
Kashiwagi, K.3
Yamagata, Z.4
Iijima, H.5
Tsukahara, S.6
-
22
-
-
84858006274
-
Mitochondrial dysfunction in glaucoma: Understanding genetic influences
-
Lascaratos G, Garway-Heath DF, Willoughby CE, Chau KY, Schapira AH. Mitochondrial dysfunction in glaucoma: understanding genetic influences. Mitochondrion. 2012;12:202-212.
-
(2012)
Mitochondrion.
, vol.12
, pp. 202-212
-
-
Lascaratos, G.1
Garway-Heath, D.F.2
Willoughby, C.E.3
Chau, K.Y.4
Schapira, A.H.5
-
23
-
-
33645860816
-
Primary role of CYP1B1 in Indian juvenile-onset POAG patients
-
Acharya M, Mookherjee S, Bhattacharjee A, et al. 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
-
24
-
-
44149120064
-
Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma
-
Bhattacharjee A, Banerjee D, Mookherjee S, et al. Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. Mol Vis. 2008;14:841-850.
-
(2008)
Mol Vis.
, vol.14
, pp. 841-850
-
-
Bhattacharjee, A.1
Banerjee, D.2
Mookherjee, S.3
-
25
-
-
38549084181
-
Glaucomaassociated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes
-
Chakrabarti S, Devi KR, Komatireddy S, et al. Glaucomaassociated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. Invest Ophthalmol Vis Sci. 2007;48:5439-5444.
-
(2007)
Invest Ophthalmol Vis Sci.
, vol.48
, pp. 5439-5444
-
-
Chakrabarti, S.1
Devi, K.R.2
Komatireddy, S.3
-
26
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
Bamshad MJ, Ng SB, Bigham AW, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011;12:745-755.
-
(2011)
Nat Rev Genet.
, vol.12
, pp. 745-755
-
-
Bamshad, M.J.1
Ng, S.B.2
Bigham, A.W.3
-
27
-
-
84891855440
-
The role and challenges of exome sequencing in studies of human diseases
-
Wang Z, Liu X, Yang BZ, Gelernter J. The role and challenges of exome sequencing in studies of human diseases. Front Genet. 2013;4:160.
-
(2013)
Front Genet.
, vol.4
, pp. 160
-
-
Wang, Z.1
Liu, X.2
Yang, B.Z.3
Gelernter, J.4
-
28
-
-
77952299473
-
Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia
-
Wang Q, Wang P, Li S, et al. Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia. Mol Vis. 2010;16:303-309.
-
(2010)
Mol Vis.
, vol.16
, pp. 303-309
-
-
Wang, Q.1
Wang, P.2
Li, S.3
-
29
-
-
84902509472
-
The influence of surgical and medical interventions upon optic disc structure in patients with primary open angle glaucoma
-
Xiao H, Liu X, Zhong Y, Mao Z. The influence of surgical and medical interventions upon optic disc structure in patients with primary open angle glaucoma. Eye Sci. 2011;26:185-192.
-
(2011)
Eye Sci.
, vol.26
, pp. 185-192
-
-
Xiao, H.1
Liu, X.2
Zhong, Y.3
Mao, Z.4
-
30
-
-
67651235947
-
Association of the single nucleotide polymorphisms in the extracellular matrix metalloprotease-9 gene with PACG in southern China
-
Cong Y, Guo X, Liu X, et al. Association of the single nucleotide polymorphisms in the extracellular matrix metalloprotease-9 gene with PACG in southern China. Mol Vis. 2009;15:1412-1417.
-
(2009)
Mol Vis.
, vol.15
, pp. 1412-1417
-
-
Cong, Y.1
Guo, X.2
Liu, X.3
-
31
-
-
64349119536
-
Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma
-
Yang M, Guo X, Liu X, et al. Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma. Mol Vis. 2009;15:432-437.
-
(2009)
Mol Vis.
, vol.15
, pp. 432-437
-
-
Yang, M.1
Guo, X.2
Liu, X.3
-
32
-
-
68549104404
-
The sequence alignment/ map format and SAMtools
-
Li H, Handsaker B, Wysoker A, et al. The sequence alignment/ map format and SAMtools. Bioinformatics. 2009;25:2078-2079.
-
(2009)
Bioinformatics.
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
-
33
-
-
55549097836
-
Mapping short DNA sequencing reads and calling variants using mapping quality scores
-
Li H, Ruan J, Durbin R. Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res. 2008;18:1851-1858.
-
(2008)
Genome Res.
, vol.18
, pp. 1851-1858
-
-
Li, H.1
Ruan, J.2
Durbin, R.3
-
34
-
-
84862648756
-
-
National Heart, Lung, and Blood Institute. Available at: Accessed April 2014
-
National Heart, Lung, and Blood Institute. NHLBI exome sequencing project (ESP): exome variant server. Available at: http://evs.gs.washington.edu/EVS/. Accessed April 2014.
-
NHLBI exome sequencing project (ESP): Exome variant server.
-
-
-
35
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073-1081.
-
(2009)
Nat Protoc.
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
36
-
-
77955868835
-
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations
-
Flanagan SE, Patch AM, Ellard S, Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers. 2010;14:533-537.
-
(2010)
Genet Test Mol Biomarkers.
, vol.14
, pp. 533-537
-
-
Flanagan, S.E.1
Patch, A.M.2
Ellard, S.3
-
37
-
-
34547138677
-
Prediction of primate splice site using inhomogeneous Markov chain and neural network
-
Liu L, Ho YK, Yau S. Prediction of primate splice site using inhomogeneous Markov chain and neural network. DNA Cell Biol. 2007;26:477-483.
-
(2007)
DNA Cell Biol.
, vol.26
, pp. 477-483
-
-
Liu, L.1
Ho, Y.K.2
Yau, S.3
-
38
-
-
0034020149
-
Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma
-
Lam DS, Leung YF, Chua JK, et al. Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2000;41:1386-1391.
-
(2000)
Invest Ophthalmol Vis Sci.
, vol.41
, pp. 1386-1391
-
-
Lam, D.S.1
Leung, Y.F.2
Chua, J.K.3
-
39
-
-
0033628769
-
Novel TIGR sequence alteration Val53Ala
-
Pang CP, Leung YF, Chua JK, Baum L, Fan DS, Lam DS. Novel TIGR sequence alteration Val53Ala. Hum Mutat. 2000;15:122.
-
(2000)
Hum Mutat.
, vol.15
, pp. 122
-
-
Pang, C.P.1
Leung, Y.F.2
Chua, J.K.3
Baum, L.4
Fan, D.S.5
Lam, D.S.6
-
40
-
-
26244460821
-
SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients
-
Fan BJ, Wang DY, Fan DS, et al. SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients. Mol Vis. 2005;11:625-631.
-
(2005)
Mol Vis.
, vol.11
, pp. 625-631
-
-
Fan, B.J.1
Wang, D.Y.2
Fan, D.S.3
-
41
-
-
17944385621
-
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
-
Alward WL, Fingert JH, Coote MA, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med 1998;338:1022-1027.
-
(1998)
N Engl J Med
, vol.338
, pp. 1022-1027
-
-
Alward, W.L.1
Fingert, J.H.2
Coote, M.A.3
-
42
-
-
0031310603
-
TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma
-
Kee C, Ahn BH. TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma. Korean J Ophthalmol. 1997; 11:75-78.
-
(1997)
Korean J Ophthalmol.
, vol.11
, pp. 75-78
-
-
Kee, C.1
Ahn, B.H.2
-
43
-
-
0036976784
-
Mutations in MYOC gene of Indian primary open angle glaucoma patients
-
Mukhopadhyay A, Acharya M, Mukherjee S, et al. Mutations in MYOC gene of Indian primary open angle glaucoma patients. Mol Vis. 2002;8:442-448.
-
(2002)
Mol Vis.
, vol.8
, pp. 442-448
-
-
Mukhopadhyay, A.1
Acharya, M.2
Mukherjee, S.3
-
44
-
-
9844252339
-
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma
-
Adam MF, Belmouden A, Binisti P, et al. Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet. 1997;6:2091-2097.
-
(1997)
Hum Mol Genet.
, vol.6
, pp. 2091-2097
-
-
Adam, M.F.1
Belmouden, A.2
Binisti, P.3
-
45
-
-
0036784796
-
TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma
-
Pang CP, Leung YF, Fan B, et al. TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2002;43:3231-3235.
-
(2002)
Invest Ophthalmol Vis Sci.
, vol.43
, pp. 3231-3235
-
-
Pang, C.P.1
Leung, Y.F.2
Fan, B.3
-
46
-
-
0344889215
-
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
-
Fingert JH, Heon E, Liebmann JM, et al. 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
-
47
-
-
18244369509
-
Molecular analysis of the myocilin gene in Chinese subjects with chronic primary-angle closure glaucoma
-
Aung T, Yong VH, Chew PT, et al. Molecular analysis of the myocilin gene in Chinese subjects with chronic primary-angle closure glaucoma. Invest Ophthalmol Vis Sci. 2005;46:1303-1306.
-
(2005)
Invest Ophthalmol Vis Sci.
, vol.46
, pp. 1303-1306
-
-
Aung, T.1
Yong, V.H.2
Chew, P.T.3
-
48
-
-
77958149448
-
Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an Indian population
-
Rao KN, Kaur I, Parikh RS, et al. Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an Indian population. Invest Ophthalmol Vis Sci. 2010;51:4937-4941.
-
(2010)
Invest Ophthalmol Vis Sci.
, vol.51
, pp. 4937-4941
-
-
Rao, K.N.1
Kaur, I.2
Parikh, R.S.3
-
50
-
-
34548819613
-
Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma
-
Yen YC, Yang JJ, Chou MC, Li SY. Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma. Mol Vis. 2007;13:1627-1634.
-
(2007)
Mol Vis.
, vol.13
, pp. 1627-1634
-
-
Yen, Y.C.1
Yang, J.J.2
Chou, M.C.3
Li, S.Y.4
-
51
-
-
64249161403
-
Structural changes of the trabecular meshwork in different kinds of glaucoma
-
Tektas OY, Lutjen-Drecoll E. Structural changes of the trabecular meshwork in different kinds of glaucoma. Exp Eye Res. 2009;88:769-775.
-
(2009)
Exp Eye Res.
, vol.88
, pp. 769-775
-
-
Tektas, O.Y.1
Lutjen-Drecoll, E.2
-
52
-
-
34248212139
-
Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary openangle glaucoma: Predominance of CYP1B1 mutations in Indian patients
-
Kumar A, Basavaraj MG, Gupta SK, et al. Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary openangle glaucoma: predominance of CYP1B1 mutations in Indian patients. Mol Vis. 2007;13:667-676.
-
(2007)
Mol Vis.
, vol.13
, pp. 667-676
-
-
Kumar, A.1
Basavaraj, M.G.2
Gupta, S.K.3
-
53
-
-
84877843304
-
The prevalence of primary glaucoma in mainland China: A systematic review and meta-analysis
-
Cheng JW, Cheng SW, Ma XY, Cai JP, Li Y, Wei RL. The prevalence of primary glaucoma in mainland China: a systematic review and meta-analysis. J Glaucoma. 2013;22: 301-306.
-
(2013)
J Glaucoma.
, vol.22
, pp. 301-306
-
-
Cheng, J.W.1
Cheng, S.W.2
Ma, X.Y.3
Cai, J.P.4
Li, Y.5
Wei, R.L.6
-
55
-
-
33745672351
-
Distribution of WDR36 DNA sequence variants in patients with primary openangle glaucoma
-
Hauser MA, Allingham RR, Linkroum K, et al. Distribution of WDR36 DNA sequence variants in patients with primary openangle glaucoma. Invest Ophthalmol Vis Sci. 2006;47:2542-2546.
-
(2006)
Invest Ophthalmol Vis Sci.
, vol.47
, pp. 2542-2546
-
-
Hauser, M.A.1
Allingham, R.R.2
Linkroum, K.3
-
56
-
-
65349177759
-
Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma
-
Fan BJ, Wang DY, Cheng CY, Ko WC, Lam SC, Pang CP. Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma. Mol Vis. 2009;15:646-653.
-
(2009)
Mol Vis.
, vol.15
, pp. 646-653
-
-
Fan, B.J.1
Wang, D.Y.2
Cheng, C.Y.3
Ko, W.C.4
Lam, S.C.5
Pang, C.P.6
-
57
-
-
0036956661
-
Myocilin mutations in a population-based sample of cases with open-angle glaucoma: The Rotterdam study
-
Hulsman CA, De Jong PT, Lettink M, Van Duijn CM, Hofman A, Bergen AA. Myocilin mutations in a population-based sample of cases with open-angle glaucoma: the Rotterdam study. Graefes Arch Clin Exp Ophthalmol. 2002;240:468-474.
-
(2002)
Graefes Arch Clin Exp Ophthalmol.
, vol.240
, pp. 468-474
-
-
Hulsman, C.A.1
De Jong, P.T.2
Lettink, M.3
Van Duijn, C.M.4
Hofman, A.5
Bergen, A.A.6
-
58
-
-
0032231625
-
Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma
-
Wiggs JL, Allingham RR, Vollrath D, et al. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet. 1998;63: 1549-1552.
-
(1998)
Am J Hum Genet.
, vol.63
, pp. 1549-1552
-
-
Wiggs, J.L.1
Allingham, R.R.2
Vollrath, D.3
-
59
-
-
1842477258
-
Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients
-
Sripriya S, Uthra S, Sangeetha R, et al. Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients. Clin Genet. 2004;65:333-337.
-
(2004)
Clin Genet.
, vol.65
, pp. 333-337
-
-
Sripriya, S.1
Uthra, S.2
Sangeetha, R.3
-
60
-
-
77950352255
-
Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg [in Russian]
-
Motushchuk AE, Komarova T, Grudinina NA, et al. Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg [in Russian]. Genetika. 2009;45:1659-1667.
-
(2009)
Genetika.
, vol.45
, pp. 1659-1667
-
-
Motushchuk, A.E.1
Komarova, T.2
Grudinina, N.A.3
-
62
-
-
79955018797
-
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG
-
Frezzotti P, Pescucci C, Papa FT, et al. Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG. Br J Ophthalmol. 2011;95:624-626.
-
(2011)
Br J Ophthalmol.
, vol.95
, pp. 624-626
-
-
Frezzotti, P.1
Pescucci, C.2
Papa, F.T.3
-
63
-
-
84856002625
-
WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: Analysis of gene-gene interactions
-
Blanco-Marchite C, Sanchez-Sanchez F, Lopez-Garrido MP, et al. WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: analysis of gene-gene interactions. Invest Ophthalmol Vis Sci. 2011;52:8467-8478.
-
(2011)
Invest Ophthalmol Vis Sci.
, vol.52
, pp. 8467-8478
-
-
Blanco-Marchite, C.1
Sanchez-Sanchez, F.2
Lopez-Garrido, M.P.3
-
64
-
-
77956970117
-
Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population
-
Vithana EN, Nongpiur ME, Venkataraman D, Chan SH, Mavinahalli J, Aung T. Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population. Mol Vis. 2010;16:1640-1645.
-
(2010)
Mol Vis.
, vol.16
, pp. 1640-1645
-
-
Vithana, E.N.1
Nongpiur, M.E.2
Venkataraman, D.3
Chan, S.H.4
Mavinahalli, J.5
Aung, T.6
-
65
-
-
84864318802
-
Evaluation of NTF4 as a causative gene for primary open-angle glaucoma
-
Chen LJ, Ng TK, Fan AH, et al. Evaluation of NTF4 as a causative gene for primary open-angle glaucoma. Mol Vis. 2012;18:1763-1772.
-
(2012)
Mol Vis.
, vol.18
, pp. 1763-1772
-
-
Chen, L.J.1
Ng, T.K.2
Fan, A.H.3
-
66
-
-
76249116971
-
The human gene mutation database: Providing a comprehensive central mutation database for molecular diagnostics and personalized genomics
-
Stenson PD, Ball EV, Howells K, Phillips AD, Mort M, Cooper DN. The human gene mutation database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics. 2009;4:69-72.
-
(2009)
Hum Genomics.
, vol.4
, pp. 69-72
-
-
Stenson, P.D.1
Ball, E.V.2
Howells, K.3
Phillips, A.D.4
Mort, M.5
Cooper, D.N.6
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