-
1
-
-
84908473395
-
Global prevalence of glaucoma and projections of glaucoma burden through 2040: A systematic review and meta-analysis
-
Tham YC, Li X, Wong TY, Quigley HA, Aung T, Cheng CY. Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis. Ophthalmology. 2014; 121: 2081-2090.
-
(2014)
Ophthalmology
, vol.121
, pp. 2081-2090
-
-
Tham, Y.C.1
Li, X.2
Wong, T.Y.3
Quigley, H.A.4
Aung, T.5
Cheng, C.Y.6
-
2
-
-
64249096137
-
The genetics of primary openangle glaucoma: A review
-
Allingham RR, Liu Y, Rhee DJ. The genetics of primary openangle glaucoma: a review. Exp Eye Res. 2009; 88: 837-844.
-
(2009)
Exp Eye Res
, vol.88
, pp. 837-844
-
-
Allingham, R.R.1
Liu, Y.2
Rhee, D.J.3
-
4
-
-
80055045333
-
Molecular genetics in glaucoma
-
Liu Y, Allingham RR. Molecular genetics in glaucoma. Exp Eye Res. 2011; 93: 331-339.
-
(2011)
Exp Eye Res
, vol.93
, pp. 331-339
-
-
Liu, Y.1
Allingham, R.R.2
-
5
-
-
33747283433
-
-
6th ed. Philadelphia, PA: Wolters Kluwer/Lippincott Williams & Wilkins Health
-
Allingham RR, Shields MB. Shields' Textbook of Glaucoma. 6th ed. Philadelphia, PA: Wolters Kluwer/Lippincott Williams & Wilkins Health; 2011.
-
(2011)
Shields' Textbook of Glaucoma
-
-
Allingham, R.R.1
Shields, M.B.2
-
6
-
-
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
-
8
-
-
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
-
9
-
-
79956006929
-
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma
-
Fingert JH, Robin AL, Stone JL, et al. Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet. 2011; 20: 2482-2494.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2482-2494
-
-
Fingert, J.H.1
Robin, A.L.2
Stone, J.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
-
-
0030942553
-
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
-
Stoilov I, Akarsu AN, Sarfarazi M. 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. Hum Mol Genet. 1997; 6: 641-647.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 641-647
-
-
Stoilov, I.1
Akarsu, A.N.2
Sarfarazi, M.3
-
13
-
-
75749114183
-
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma
-
Pasutto F, Chavarria-Soley G, Mardin CY, et al. Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2010; 51: 249-254.
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 249-254
-
-
Pasutto, F.1
Chavarria-Soley, G.2
Mardin, C.Y.3
-
14
-
-
79954561198
-
Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area
-
Khor CC, Ramdas WD, Vithana EN, et al. Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area. Hum Mol Genet. 2011; 20: 1864-1872.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1864-1872
-
-
Khor, C.C.1
Ramdas, W.D.2
Vithana, E.N.3
-
15
-
-
77954164213
-
A genomewide association study of optic disc parameters
-
Ramdas WD, van Koolwijk LM, Ikram MK, et al. A genomewide association study of optic disc parameters. PLoS Genet. 2010; 6: e1000978.
-
(2010)
PLoS Genet
, vol.6
-
-
Ramdas, W.D.1
van Koolwijk, L.M.2
Ikram, M.K.3
-
16
-
-
79955930667
-
Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population
-
Fan BJ, Wang DY, Pasquale LR, Haines JL, Wiggs JL. Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population. Invest Ophthalmol Vis Sci. 2011; 52: 1788-1792.
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 1788-1792
-
-
Fan, B.J.1
Wang, D.Y.2
Pasquale, L.R.3
Haines, J.L.4
Wiggs, J.L.5
-
17
-
-
84864490009
-
Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma
-
Burdon KP, Crawford A, Casson RJ, et al. Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma. Ophthalmology. 2012; 119: 1539-1545.
-
(2012)
Ophthalmology
, vol.119
, pp. 1539-1545
-
-
Burdon, K.P.1
Crawford, A.2
Casson, R.J.3
-
18
-
-
84862980353
-
CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies
-
Cao D, Jiao X, Liu X, et al. CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies. PLoS One. 2012; 7: e39278.
-
(2012)
PLoS One
, vol.7
-
-
Cao, D.1
Jiao, X.2
Liu, X.3
-
19
-
-
81255169298
-
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA
-
Wiggs JL, Kang JH, Yaspan BL, et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. Hum Mol Genet. 2011; 20: 4707-4713.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 4707-4713
-
-
Wiggs, J.L.1
Kang, J.H.2
Yaspan, B.L.3
-
20
-
-
84860556002
-
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma
-
Wiggs JL, Yaspan BL, Hauser MA, et al. Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet. 2012; 8: e1002654.
-
(2012)
PLoS Genet
, vol.8
-
-
Wiggs, J.L.1
Yaspan, B.L.2
Hauser, M.A.3
-
21
-
-
77957603164
-
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
-
Thorleifsson G, Walters GB, Hewitt AW, et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet. 2010; 42: 906-909.
-
(2010)
Nat Genet
, vol.42
, pp. 906-909
-
-
Thorleifsson, G.1
Walters, G.B.2
Hewitt, A.W.3
-
22
-
-
84947899509
-
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
-
Lu Y, Vitart V, Burdon KP, et al. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet. 2013; 45: 155-163.
-
(2013)
Nat Genet
, vol.45
, pp. 155-163
-
-
Lu, Y.1
Vitart, V.2
Burdon, K.P.3
-
23
-
-
77954349639
-
Genome-wide association study of normal tension glaucoma: Common variants in SRBD1 and ELOVL5 contribute to disease susceptibility
-
Meguro A, Inoko H, Ota M, Mizuki N, Bahram S. Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. Ophthalmology. 2010; 117: 1331-1338.
-
(2010)
Ophthalmology
, vol.117
, pp. 1331-1338
-
-
Meguro, A.1
Inoko, H.2
Ota, M.3
Mizuki, N.4
Bahram, S.5
-
24
-
-
84884246440
-
Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry
-
Liu Y, Hauser MA, Akafo SK, et al. Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. Invest Ophthalmol Vis Sci. 2013; 54: 6248-6254.
-
(2013)
Invest Ophthalmol Vis Sci
, vol.54
, pp. 6248-6254
-
-
Liu, Y.1
Hauser, M.A.2
Akafo, S.K.3
-
25
-
-
79957455456
-
Common genetic variants associated with open-angle glaucoma
-
Ramdas WD, van Koolwijk LM, Lemij HG, et al. Common genetic variants associated with open-angle glaucoma. Hum Mol Genet. 2011; 20: 2464-2471.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2464-2471
-
-
Ramdas, W.D.1
van Koolwijk, L.M.2
Lemij, H.G.3
-
26
-
-
84919377947
-
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary openangle glaucoma
-
Gharahkhani P, Burdon KP, Fogarty R, et al. Common variants near ABCA1, AFAP1 and GMDS confer risk of primary openangle glaucoma. Nat Genet. 2014; 46: 1120-1125.
-
(2014)
Nat Genet
, vol.46
, pp. 1120-1125
-
-
Gharahkhani, P.1
Burdon, K.P.2
Fogarty, R.3
-
27
-
-
84922012097
-
Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma
-
Chen Y, Lin Y, Vithana EN, et al. Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma. Nat Genet. 2014; 46: 1115-1119.
-
(2014)
Nat Genet
, vol.46
, pp. 1115-1119
-
-
Chen, Y.1
Lin, Y.2
Vithana, E.N.3
-
28
-
-
84863650703
-
Common genetic determinants of intraocular pressure and primary open-angle glaucoma
-
van Koolwijk LM, Ramdas WD, Ikram MK, et al. Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet. 2012; 8: e1002611.
-
(2012)
PLoS Genet
, vol.8
-
-
van Koolwijk, L.M.1
Ramdas, W.D.2
Ikram, M.K.3
-
29
-
-
84919382642
-
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma
-
Hysi PG, Cheng CY, Springelkamp H, et al. Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nat Genet. 2014; 46: 1126-1130.
-
(2014)
Nat Genet
, vol.46
, pp. 1126-1130
-
-
Hysi, P.G.1
Cheng, C.Y.2
Springelkamp, H.3
-
31
-
-
80455150254
-
GALC deletions increase the risk of primary open-angle glaucoma: The role of Mendelian variants in complex disease
-
Liu Y, Gibson J, Wheeler J, et al. GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease. PLoS One. 2011; 6: e27134.
-
(2011)
PLoS One
, vol.6
-
-
Liu, Y.1
Gibson, J.2
Wheeler, J.3
-
32
-
-
84871672101
-
The role of lysyl oxidaselike 1. DNA copy number variants in exfoliation glaucoma
-
Liu Y, Whigham BT, Wheeler J, et al. The role of lysyl oxidaselike 1. DNA copy number variants in exfoliation glaucoma. Mol Vis. 2012; 18: 2976-2981.
-
(2012)
Mol Vis
, vol.18
, pp. 2976-2981
-
-
Liu, Y.1
Whigham, B.T.2
Wheeler, J.3
-
33
-
-
84857798148
-
Confirmation of TBK1 duplication in normal tension glaucoma
-
Kawase K, Allingham RR, Meguro A, et al. Confirmation of TBK1 duplication in normal tension glaucoma. Exp Eye Res. 2012; 96: 178-180.
-
(2012)
Exp Eye Res
, vol.96
, pp. 178-180
-
-
Kawase, K.1
Allingham, R.R.2
Meguro, A.3
-
34
-
-
84900426527
-
TBK1 gene duplication and normal-tension glaucoma
-
Ritch R, Darbro B, Menon G, et al. TBK1 gene duplication and normal-tension glaucoma. JAMA Ophthalmol. 2014; 132: 544-548.
-
(2014)
JAMA Ophthalmol
, vol.132
, pp. 544-548
-
-
Ritch, R.1
Darbro, B.2
Menon, G.3
-
35
-
-
84883555830
-
The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: Rationale, study design, and clinical variables
-
Wiggs JL, Hauser MA, Abdrabou W, et al. The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables. J Glaucoma. 2012; 22: 517-525.
-
(2012)
J Glaucoma
, vol.22
, pp. 517-525
-
-
Wiggs, J.L.1
Hauser, M.A.2
Abdrabou, W.3
-
36
-
-
77951468653
-
The Gene, Environment Association Studies consortium (GENEVA): Maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions
-
Cornelis MC, Agrawal A, Cole JW, et al. The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions. Genet Epidemiol. 2010; 34: 364-372.
-
(2010)
Genet Epidemiol
, vol.34
, pp. 364-372
-
-
Cornelis, M.C.1
Agrawal, A.2
Cole, J.W.3
-
37
-
-
84895071782
-
Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss
-
Loomis SJ, Kang JH, Weinreb RN, et al. Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. Ophthalmology. 2014; 121: 508-516.
-
(2014)
Ophthalmology
, vol.121
, pp. 508-516
-
-
Loomis, S.J.1
Kang, J.H.2
Weinreb, R.N.3
-
38
-
-
84901594800
-
Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma
-
Carnes MU, Liu YP, Allingham RR, et al. Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma. PLoS Genet. 2014; 10: e1004372.
-
(2014)
PLoS Genet
, vol.10
-
-
Carnes, M.U.1
Liu, Y.P.2
Allingham, R.R.3
-
39
-
-
84863746476
-
Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia
-
Ulmer M, Li J, Yaspan BL, et al. Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. Invest Ophthalmol Vis Sci. 2012; 53: 4468-4474.
-
(2012)
Invest Ophthalmol Vis Sci
, vol.53
, pp. 4468-4474
-
-
Ulmer, M.1
Li, J.2
Yaspan, B.L.3
-
40
-
-
84911001878
-
Hypothesisindependent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normalpressure glaucoma
-
Bailey JN, Yaspan BL, Pasquale LR, et al. Hypothesisindependent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normalpressure glaucoma. Hum Genet. 2014; 133: 1319-1330.
-
(2014)
Hum Genet
, vol.133
, pp. 1319-1330
-
-
Bailey, J.N.1
Yaspan, B.L.2
Pasquale, L.R.3
-
41
-
-
84880269324
-
Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States
-
Pasquale LR, Loomis SJ, Weinreb RN, et al. Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States. Mol Vis. 2013; 19: 1471-1481.
-
(2013)
Mol Vis
, vol.19
, pp. 1471-1481
-
-
Pasquale, L.R.1
Loomis, S.J.2
Weinreb, R.N.3
-
42
-
-
84891865046
-
Genome-wide association study and meta-analysis of intraocular pressure
-
Ozel AB, Moroi SE, Reed DM, et al. Genome-wide association study and meta-analysis of intraocular pressure. Hum Genet. 2014; 133: 41-57.
-
(2014)
Hum Genet
, vol.133
, pp. 41-57
-
-
Ozel, A.B.1
Moroi, S.E.2
Reed, D.M.3
-
43
-
-
84919387573
-
Saliva as a source of genomic DNA for genetic studies: Review of current methods and applications
-
Sun F, Reichenberger EJ. Saliva as a source of genomic DNA for genetic studies: review of current methods and applications. Oral Health Dent Manag. 2014; 13: 217-222.
-
(2014)
Oral Health Dent Manag
, vol.13
, pp. 217-222
-
-
Sun, F.1
Reichenberger, E.J.2
-
44
-
-
77953974065
-
Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays
-
Dellinger AE, Saw SM, Goh LK, Seielstad M, Young TL, Li YJ. Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays. Nucleic Acids Res. 2010; 38: e105.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Dellinger, A.E.1
Saw, S.M.2
Goh, L.K.3
Seielstad, M.4
Young, T.L.5
Li, Y.J.6
-
45
-
-
35948984173
-
PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
Wang K, Li M, Hadley D, et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res. 2007; 17: 1665-1674.
-
(2007)
Genome Res
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
-
46
-
-
84919377947
-
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary openangle glaucoma
-
Gharahkhani P, Burdon KP, Fogarty R, et al. Common variants near ABCA1, AFAP1 and GMDS confer risk of primary openangle glaucoma. Nat Genet. 2014; 46: 1120-1125.
-
(2014)
Nat Genet
, vol.46
, pp. 1120-1125
-
-
Gharahkhani, P.1
Burdon, K.P.2
Fogarty, R.3
-
47
-
-
40149097099
-
Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma
-
Morton S, Hesson L, Peggie M, Cohen P. Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma. FEBS Lett. 2008; 582: 997-1002.
-
(2008)
FEBS Lett
, vol.582
, pp. 997-1002
-
-
Morton, S.1
Hesson, L.2
Peggie, M.3
Cohen, P.4
-
48
-
-
34547914382
-
Studies of optineurin, a glaucoma gene: Golgi fragmentation and cell death from overexpression of wild-type and mutant optineurin in two ocular cell types
-
Park BC, Shen X, Samaraweera M, Yue BY. Studies of optineurin, a glaucoma gene: Golgi fragmentation and cell death from overexpression of wild-type and mutant optineurin in two ocular cell types. Am J Pathol. 2006; 169: 1976-1989.
-
(2006)
Am J Pathol
, vol.169
, pp. 1976-1989
-
-
Park, B.C.1
Shen, X.2
Samaraweera, M.3
Yue, B.Y.4
-
49
-
-
80052197913
-
TBK1 mediates crosstalk between the innate immune response and autophagy
-
Weidberg H, Elazar Z. TBK1 mediates crosstalk between the innate immune response and autophagy. Sci Signal. 2011; 4: pe39.
-
(2011)
Sci Signal
, vol.4
-
-
Weidberg, H.1
Elazar, Z.2
-
50
-
-
79957611419
-
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
-
Burdon KP, Macgregor S, Hewitt AW, et al. Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat Genet. 2011; 43: 574-578.
-
(2011)
Nat Genet
, vol.43
, pp. 574-578
-
-
Burdon, K.P.1
Macgregor, S.2
Hewitt, A.W.3
-
51
-
-
84867290584
-
Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye
-
Sharma S, Burdon KP, Chidlow G, et al. Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye. Invest Ophthalmol Vis Sci. 2012; 53: 4917-4925.
-
(2012)
Invest Ophthalmol Vis Sci
, vol.53
, pp. 4917-4925
-
-
Sharma, S.1
Burdon, K.P.2
Chidlow, G.3
-
52
-
-
84892871572
-
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia
-
Alanay Y, Erguner B, Utine E, et al. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. Am J Med Genet A. 2014; 164A: 291-304.
-
(2014)
Am J Med Genet A
, vol.164 A
, pp. 291-304
-
-
Alanay, Y.1
Erguner, B.2
Utine, E.3
-
53
-
-
84883770777
-
Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum
-
Caglayan AO, Per H, Akgumus G, et al. Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. Clin Genet. 2013; 84: 394-395.
-
(2013)
Clin Genet
, vol.84
, pp. 394-395
-
-
Caglayan, A.O.1
Per, H.2
Akgumus, G.3
-
54
-
-
76249110211
-
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation
-
Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H. Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Proc Natl Acad Sci U S A. 2010; 107: 258-263.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 258-263
-
-
Xin, B.1
Puffenberger, E.G.2
Turben, S.3
Tan, H.4
Zhou, A.5
Wang, H.6
-
55
-
-
84928721781
-
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia
-
Pehlivan D, Karaca E, Aydin H, et al. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. Eur J Hum Genet. 2014; 22: 1145-1148.
-
(2014)
Eur J Hum Genet
, vol.22
, pp. 1145-1148
-
-
Pehlivan, D.1
Karaca, E.2
Aydin, H.3
-
56
-
-
84878624305
-
The role of cerebrospinal fluid pressure in glaucoma and other ophthalmic diseases: A review
-
Fleischman D, Allingham RR. The role of cerebrospinal fluid pressure in glaucoma and other ophthalmic diseases: A review. Saudi J Ophthalmol. 2013; 27: 97-106.
-
(2013)
Saudi J Ophthalmol
, vol.27
, pp. 97-106
-
-
Fleischman, D.1
Allingham, R.R.2
-
57
-
-
84885458430
-
Cerebrospinal fluid pressure and glaucoma
-
Jonas JB, Wang N. Cerebrospinal fluid pressure and glaucoma. J Ophthalmic Vis Res. 2013; 8: 257-263.
-
(2013)
J Ophthalmic Vis Res
, vol.8
, pp. 257-263
-
-
Jonas, J.B.1
Wang, N.2
-
58
-
-
84879836505
-
Low cerebrospinal fluid pressure in the pathogenesis of primary open-angle glaucoma: Epiphe-nomenon or causal relationship? The Beijing Intracranial and Intraocular Pressure (iCOP) study
-
Wang N, Yang D, Jonas JB. Low cerebrospinal fluid pressure in the pathogenesis of primary open-angle glaucoma: epiphe-nomenon or causal relationship? The Beijing Intracranial and Intraocular Pressure (iCOP) study. J Glaucoma. 2013; 22(suppl 5): S11-S12.
-
(2013)
J Glaucoma
, vol.22
, pp. S11-S12
-
-
Wang, N.1
Yang, D.2
Jonas, J.B.3
-
59
-
-
84861474728
-
Gas7-deficient mouse reveals roles in motor function and muscle fiber composition during aging
-
Huang BT, Chang PY, Su CH, Chao CC, Lin-Chao S. Gas7-deficient mouse reveals roles in motor function and muscle fiber composition during aging. PLoS One. 2012; 7: e37702.
-
(2012)
PLoS One
, vol.7
-
-
Huang, B.T.1
Chang, P.Y.2
Su, C.H.3
Chao, C.C.4
Lin-Chao, S.5
-
60
-
-
77951231123
-
Gas7 functions with N-WASP to regulate the neurite outgrowth of hippocampal neurons
-
You JJ, Lin-Chao S. Gas7 functions with N-WASP to regulate the neurite outgrowth of hippocampal neurons. J Biol Chem. 2010; 285: 11652-11666.
-
(2010)
J Biol Chem
, vol.285
, pp. 11652-11666
-
-
You, J.J.1
Lin-Chao, S.2
-
61
-
-
84880163861
-
Gas7 is required for mesenchymal stem cell-derived bone development
-
Chao CC, Hung FC, Chao JJ. Gas7 is required for mesenchymal stem cell-derived bone development. Stem Cells Int. 2013; 2013: 137010.
-
(2013)
Stem Cells Int
, vol.2013
-
-
Chao, C.C.1
Hung, F.C.2
Chao, J.J.3
-
62
-
-
84901372681
-
A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort
-
Nag A, Venturini C, Small KS, et al. A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort. Hum Mol Genet. 2014; 23: 3343-3348.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 3343-3348
-
-
Nag, A.1
Venturini, C.2
Small, K.S.3
-
63
-
-
84872319362
-
CDKN2B-AS1 genotypeglaucoma feature correlations in primary open-angle glaucoma patients from the United States
-
Pasquale LR, Loomis SJ, Kang JH, et al. CDKN2B-AS1 genotypeglaucoma feature correlations in primary open-angle glaucoma patients from the United States. Am J Ophthalmol. 2013; 155: 342-353.
-
(2013)
Am J Ophthalmol
, vol.155
, pp. 342-353
-
-
Pasquale, L.R.1
Loomis, S.J.2
Kang, J.H.3
-
64
-
-
84874969813
-
Long non-coding RNA ANRIL (CDKN2B-AS) is induced by the ATM-E2F1 signaling pathway
-
Wan G, Mathur R, Hu X, et al. Long non-coding RNA ANRIL (CDKN2B-AS) is induced by the ATM-E2F1 signaling pathway. Cell Signal. 2013; 25: 1086-1095.
-
(2013)
Cell Signal
, vol.25
, pp. 1086-1095
-
-
Wan, G.1
Mathur, R.2
Hu, X.3
-
65
-
-
84894052955
-
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age
-
Iglesias AI, Springelkamp H, van der Linde H, et al. Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age. Hum Mol Genet. 2014; 23: 1320-1332.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 1320-1332
-
-
Iglesias, A.I.1
Springelkamp, H.2
van der Linde, H.3
-
66
-
-
0037119585
-
Tissue-specific regulation of retinal and pituitary precursor cell proliferation
-
Li X, Perissi V, Liu F, Rose DW, Rosenfeld MG. Tissue-specific regulation of retinal and pituitary precursor cell proliferation. Science. 2002; 297: 1180-1183.
-
(2002)
Science
, vol.297
, pp. 1180-1183
-
-
Li, X.1
Perissi, V.2
Liu, F.3
Rose, D.W.4
Rosenfeld, M.G.5
-
67
-
-
0032826288
-
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies
-
Gallardo ME, Lopez-Rios J, Fernaud-Espinosa I, et al. Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. Genomics. 1999; 61: 82-91.
-
(1999)
Genomics
, vol.61
, pp. 82-91
-
-
Gallardo, M.E.1
Lopez-Rios, J.2
Fernaud-Espinosa, I.3
-
68
-
-
0027468587
-
A case of deletion 14(q22. 1->q22. 3) associated with anophthalmia and pituitary abnormalities
-
Elliott J, Maltby EL, Reynolds B. A case of deletion 14(q22. 1->q22. 3) associated with anophthalmia and pituitary abnormalities. J Med Genet. 1993; 30: 251-252.
-
(1993)
J Med Genet
, vol.30
, pp. 251-252
-
-
Elliott, J.1
Maltby, E.L.2
Reynolds, B.3
-
69
-
-
77954168341
-
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size
-
Macgregor S, Hewitt AW, Hysi PG, et al. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Hum Mol Genet. 2010; 19: 2716-2724.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 2716-2724
-
-
Macgregor, S.1
Hewitt, A.W.2
Hysi, P.G.3
-
70
-
-
84858958897
-
Interactive effects of ATOH7 and RFTN1 in association with adult-onset primary open-angle glaucoma
-
Chen JH, Wang D, Huang C, et al. Interactive effects of ATOH7 and RFTN1 in association with adult-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2012; 53: 779-785.
-
(2012)
Invest Ophthalmol Vis Sci
, vol.53
, pp. 779-785
-
-
Chen, J.H.1
Wang, D.2
Huang, C.3
-
71
-
-
84865694964
-
Association between genetic variants associated with vertical cup-to-disc ratio and phenotypic features of primary open-angle glaucoma
-
Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S. Association between genetic variants associated with vertical cup-to-disc ratio and phenotypic features of primary open-angle glaucoma. Ophthalmology. 2012; 119: 1819-1825.
-
(2012)
Ophthalmology
, vol.119
, pp. 1819-1825
-
-
Mabuchi, F.1
Sakurada, Y.2
Kashiwagi, K.3
Yamagata, Z.4
Iijima, H.5
Tsukahara, S.6
-
72
-
-
0034926798
-
Math5 is required for retinal ganglion cell and optic nerve formation
-
Brown NL, Patel S, Brzezinski J, Glaser T. Math5 is required for retinal ganglion cell and optic nerve formation. Development. 2001; 128: 2497-2508.
-
(2001)
Development
, vol.128
, pp. 2497-2508
-
-
Brown, N.L.1
Patel, S.2
Brzezinski, J.3
Glaser, T.4
-
73
-
-
79955471262
-
Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease
-
Ghiasvand NM, Rudolph DD, Mashayekhi M, Brzezinski JA, Goldman D, Glaser T. Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. Nat Neurosci. 2011; 14: 578-586.
-
(2011)
Nat Neurosci
, vol.14
, pp. 578-586
-
-
Ghiasvand, N.M.1
Rudolph, D.D.2
Mashayekhi, M.3
Brzezinski, J.A.4
Goldman, D.5
Glaser, T.6
-
74
-
-
84863393327
-
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
-
Khan K, Logan CV, McKibbin M, et al. Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Hum Mol Genet. 2012; 21: 776-783.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 776-783
-
-
Khan, K.1
Logan, C.V.2
McKibbin, M.3
|