-
1
-
-
9644283089
-
Global data on visual impairment in the year 2002
-
[PMID: 15640920]
-
Resnikoff S, Pascolini D, Etya'ale D, Kocur I, Pararajasegaram R, Pokharel GP, Mariotti SP. Global data on visual impairment in the year 2002. Bull World Health Organ 2004; 82:844-51. [PMID: 15640920]
-
(2004)
Bull World Health Organ
, vol.82
, pp. 844-851
-
-
Resnikoff, S.1
Pascolini, D.2
Etya'ale, D.3
Kocur, I.4
Pararajasegaram, R.5
Pokharel, G.P.6
Mariotti, S.P.7
-
2
-
-
1842530296
-
Causes and prevalence of visual impairment among adults in the United States
-
[PMID: 15078664]
-
Congdon N, O'Colmain B, Klaver CC, Klein R, Munoz B, Friedman DS, Kempen J, Taylor HR, Mitchell P. Causes and prevalence of visual impairment among adults in the United States. Arch Ophthalmol 2004; 122:477-85. [PMID: 15078664]
-
(2004)
Arch Ophthalmol
, vol.122
, pp. 477-485
-
-
Congdon, N.1
O'Colmain, B.2
Klaver, C.C.3
Klein, R.4
Munoz, B.5
Friedman, D.S.6
Kempen, J.7
Taylor, H.R.8
Mitchell, P.9
-
3
-
-
33644655886
-
The number of people with glaucoma worldwide in 2010 and 2020
-
[PMID: 16488940]
-
Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 2006; 90:262-7. [PMID: 16488940]
-
(2006)
Br J Ophthalmol
, vol.90
, pp. 262-267
-
-
Quigley, H.A.1
Broman, A.T.2
-
4
-
-
80055045333
-
Molecular genetics in glaucoma
-
[PMID: 21871452]
-
Liu Y, Allingham RR. Molecular genetics in glaucoma. Exp Eye Res 2011; 93:331-9. [PMID: 21871452]
-
(2011)
Exp Eye Res
, vol.93
, pp. 331-339
-
-
Liu, Y.1
Allingham, R.R.2
-
5
-
-
64249096137
-
The genetics of primary openangle glaucoma: A review
-
[PMID: 19061886]
-
Allingham RR, Liu Y, Rhee DJ. The genetics of primary openangle glaucoma: a review. Exp Eye Res 2009; 88:837-44. [PMID: 19061886]
-
(2009)
Exp Eye Res
, vol.88
, pp. 837-844
-
-
Allingham, R.R.1
Liu, Y.2
Rhee, D.J.3
-
6
-
-
0025916983
-
Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey
-
[PMID: 2056646]
-
Tielsch JM, Sommer A, Katz J, Royall RM, Quigley HA, Javitt J. Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey. JAMA 1991; 266:369-74. [PMID: 2056646]
-
(1991)
JAMA
, vol.266
, pp. 369-374
-
-
Tielsch, J.M.1
Sommer, A.2
Katz, J.3
Royall, R.M.4
Quigley, H.A.5
Javitt, J.6
-
7
-
-
0028008868
-
Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey
-
[PMID: 8285897]
-
Tielsch JM, Katz J, Sommer A, Quigley HA, Javitt JC. Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey. Arch Ophthalmol 1994; 112:69-73. [PMID: 8285897]
-
(1994)
Arch Ophthalmol
, vol.112
, pp. 69-73
-
-
Tielsch, J.M.1
Katz, J.2
Sommer, A.3
Quigley, H.A.4
Javitt, J.C.5
-
8
-
-
79955983465
-
Primary open-angle glaucoma genes
-
[PMID: 21562585]
-
Fingert JH. Primary open-angle glaucoma genes. Eye (Lond) 2011; 25:587-95. [PMID: 21562585]
-
(2011)
Eye (Lond)
, vol.25
, pp. 587-595
-
-
Fingert, J.H.1
-
10
-
-
0027173920
-
Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31
-
[PMID: 8513321]
-
Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM, Nichols BE. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 1993; 4:47-50. [PMID: 8513321]
-
(1993)
Nat Genet
, vol.4
, pp. 47-50
-
-
Sheffield, V.C.1
Stone, E.M.2
Alward, W.L.3
Drack, A.V.4
Johnson, A.T.5
Streb, L.M.6
Nichols, B.E.7
-
11
-
-
14444283397
-
Identification of a gene that causes primary open angle glaucoma
-
[PMID: 9005853]
-
Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275:668-70. [PMID: 9005853]
-
(1997)
Science
, vol.275
, pp. 668-670
-
-
Stone, E.M.1
Fingert, J.H.2
Alward, W.L.3
Nguyen, T.D.4
Polansky, J.R.5
Sunden, S.L.6
Nishimura, D.7
Clark, A.F.8
Nystuen, A.9
Nichols, B.E.10
Mackey, D.A.11
Ritch, R.12
Kalenak, J.W.13
Craven, E.R.14
Sheffield, V.C.15
-
12
-
-
18244385269
-
Adult-onset primary open-angle glaucoma caused by mutations in optineurin
-
[PMID: 11834836]
-
Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Heon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002; 295:1077-9. [PMID: 11834836]
-
(2002)
Science
, vol.295
, pp. 1077-1079
-
-
Rezaie, T.1
Child, A.2
Hitchings, R.3
Brice, G.4
Miller, L.5
Coca-Prados, M.6
Heon, E.7
Krupin, T.8
Ritch, R.9
Kreutzer, D.10
Crick, R.P.11
Sarfarazi, M.12
-
13
-
-
20144382615
-
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1
-
[PMID: 15677485]
-
Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Heon E, Crick RP, Child A, Sarfarazi M. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 2005; 14:725-33. [PMID: 15677485]
-
(2005)
Hum Mol Genet
, vol.14
, pp. 725-733
-
-
Monemi, S.1
Spaeth, G.2
DaSilva, A.3
Popinchalk, S.4
Ilitchev, E.5
Liebmann, J.6
Ritch, R.7
Heon, E.8
Crick, R.P.9
Child, A.10
Sarfarazi, M.11
-
14
-
-
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
-
[PMID: 9097971]
-
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; 6:641-7. [PMID: 9097971]
-
(1997)
Hum Mol Genet
, vol.6
, pp. 641-647
-
-
Stoilov, I.1
Akarsu, A.N.2
Sarfarazi, M.3
-
15
-
-
84857798148
-
Confirmation of TBK1 duplication in normal tension glaucoma
-
[PMID: 22306015]
-
Kawase K, Allingham RR, Meguro A, Mizuki N, Roos B, Solivan-Timpe FM, Robin AL, Ritch R, Fingert JH. Confirmation of TBK1 duplication in normal tension glaucoma. Exp Eye Res 2012; 96:178-80. [PMID: 22306015]
-
(2012)
Exp Eye Res
, vol.96
, pp. 178-180
-
-
Kawase, K.1
Allingham, R.R.2
Meguro, A.3
Mizuki, N.4
Roos, B.5
Solivan-Timpe, F.M.6
Robin, A.L.7
Ritch, R.8
Fingert, J.H.9
-
16
-
-
79956006929
-
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma
-
[PMID: 21447600]
-
Fingert JH, Robin AL, Stone JL, Roos BR, Davis LK, Scheetz TE, Bennett SR, Wassink TH, Kwon YH, Alward WL, Mullins RF, Sheffield VC, Stone EM. Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet 2011; 20:2482-94. [PMID: 21447600]
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2482-2494
-
-
Fingert, J.H.1
Robin, A.L.2
Stone, J.L.3
Roos, B.R.4
Davis, L.K.5
Scheetz, T.E.6
Bennett, S.R.7
Wassink, T.H.8
Kwon, Y.H.9
Alward, W.L.10
Mullins, R.F.11
Sheffield, V.C.12
Stone, E.M.13
-
17
-
-
38949146498
-
Myocilin allele-specific glaucoma phenotype database
-
[PMID: 17966125]
-
Hewitt AW, Mackey DA, Craig JE. Myocilin allele-specific glaucoma phenotype database. Hum Mutat 2008; 29:207-11. [PMID: 17966125]
-
(2008)
Hum Mutat
, vol.29
, pp. 207-211
-
-
Hewitt, A.W.1
Mackey, D.A.2
Craig, J.E.3
-
19
-
-
0031942449
-
Characterization and comparison of the human and mouse GLC1A glaucoma genes
-
[PMID: 9548973]
-
Fingert JH, Ying L, Swiderski RE, Nystuen AM, Arbour NC, Alward WL, Sheffield VC, Stone EM. Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Res 1998; 8:377-84. [PMID: 9548973]
-
(1998)
Genome Res
, vol.8
, pp. 377-384
-
-
Fingert, J.H.1
Ying, L.2
Swiderski, R.E.3
Nystuen, A.M.4
Arbour, N.C.5
Alward, W.L.6
Sheffield, V.C.7
Stone, E.M.8
-
21
-
-
0031149050
-
A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression, and chromosomal mapping
-
[PMID: 9169133]
-
Kubota R, Noda S, Wang Y, Minoshima S, Asakawa S, Kudoh J, Mashima Y, Oguchi Y, Shimizu N. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics 1997; 41:360-9. [PMID: 9169133]
-
(1997)
Genomics
, vol.41
, pp. 360-369
-
-
Kubota, R.1
Noda, S.2
Wang, Y.3
Minoshima, S.4
Asakawa, S.5
Kudoh, J.6
Mashima, Y.7
Oguchi, Y.8
Shimizu, N.9
-
22
-
-
0035862866
-
Nonsecretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor
-
[PMID: 11152659]
-
Jacobson N, Andrews M, Shepard AR, Nishimura D, Searby C, Fingert JH, Hageman G, Mullins R, Davidson BL, Kwon YH, Alward WL, Stone EM, Clark AF, Sheffield VC. Nonsecretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet 2001; 10:117-25. [PMID: 11152659]
-
(2001)
Hum Mol Genet
, vol.10
, pp. 117-125
-
-
Jacobson, N.1
Andrews, M.2
Shepard, A.R.3
Nishimura, D.4
Searby, C.5
Fingert, J.H.6
Hageman, G.7
Mullins, R.8
Davidson, B.L.9
Kwon, Y.H.10
Alward, W.L.11
Stone, E.M.12
Clark, A.F.13
Sheffield, V.C.14
-
23
-
-
0032725031
-
A cellular assay distinguishes normal and mutant TIGR/myocilin protein
-
[PMID: 10545602]
-
Zhou Z, Vollrath D. A cellular assay distinguishes normal and mutant TIGR/myocilin protein. Hum Mol Genet 1999; 8:2221-8. [PMID: 10545602]
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2221-2228
-
-
Zhou, Z.1
Vollrath, D.2
-
24
-
-
64249133288
-
Glaucoma-associated myocilin: A better understanding but much more to learn
-
[PMID: 18804106]
-
Resch ZT, Fautsch MP. Glaucoma-associated myocilin: a better understanding but much more to learn. Exp Eye Res 2009; 88:704-12. [PMID: 18804106]
-
(2009)
Exp Eye Res
, vol.88
, pp. 704-712
-
-
Resch, Z.T.1
Fautsch, M.P.2
-
25
-
-
33750998186
-
Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma
-
[PMID: 16954374]
-
Gould DB, Reedy M, Wilson LA, Smith RS, Johnson RL, John SW. Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma. Mol Cell Biol 2006; 26:8427-36. [PMID: 16954374]
-
(2006)
Mol Cell Biol
, vol.26
, pp. 8427-8436
-
-
Gould, D.B.1
Reedy, M.2
Wilson, L.A.3
Smith, R.S.4
Johnson, R.L.5
John, S.W.6
-
27
-
-
79955605379
-
Myocilin mutations in black South Africans with POAG
-
[PMID: 21552496]
-
Whigham BT, Williams SE, Liu Y, Rautenbach RM, Carmichael TR, Wheeler J, Ziskind A, Qin X, Schmidt S, Ramsay M, Hauser MA, Allingham RR. Myocilin mutations in black South Africans with POAG. Mol Vis 2011; 17:1064-9. [PMID: 21552496]
-
(2011)
Mol Vis
, vol.17
, pp. 1064-1069
-
-
Whigham, B.T.1
Williams, S.E.2
Liu, Y.3
Rautenbach, R.M.4
Carmichael, T.R.5
Wheeler, J.6
Ziskind, A.7
Qin, X.8
Schmidt, S.9
Ramsay, M.10
Hauser, M.A.11
Allingham, R.R.12
-
28
-
-
0036789452
-
Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa
-
[PMID: 12362081]
-
Challa P, Herndon LW, Hauser MA, Broomer BW, Pericak-Vance MA, Ababio-Danso B, Allingham RR. Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. J Glaucoma 2002; 11:416-20. [PMID: 12362081]
-
(2002)
J Glaucoma
, vol.11
, pp. 416-420
-
-
Challa, P.1
Herndon, L.W.2
Hauser, M.A.3
Broomer, B.W.4
Pericak-Vance, M.A.5
Ababio-Danso, B.6
Allingham, R.R.7
-
29
-
-
0042205260
-
Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco
-
[PMID: 12868033]
-
Melki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, Garchon H, Belmouden A. Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco. Ophthalmic Genet 2003; 24:153-60. [PMID: 12868033]
-
(2003)
Ophthalmic Genet
, vol.24
, pp. 153-160
-
-
Melki, R.1
Idhajji, A.2
Driouiche, S.3
Hassani, M.4
Boukabboucha, A.5
Akhayat, O.6
Garchon, H.7
Belmouden, A.8
-
30
-
-
0344889215
-
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
-
[PMID: 10196380]
-
Fingert JH, Heon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, Hockey RR, Williams-Lyn D, Trope G, Kitazawa Y, Ritch R, Mackey DA, Alward WL, Sheffield VC, Stone EM. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999; 8:899-905. [PMID: 10196380]
-
(1999)
Hum Mol Genet
, vol.8
, pp. 899-905
-
-
Fingert, J.H.1
Heon, E.2
Liebmann, J.M.3
Yamamoto, T.4
Craig, J.E.5
Rait, J.6
Kawase, K.7
Hoh, S.T.8
Buys, Y.M.9
Dickinson, J.10
Hockey, R.R.11
Williams-Lyn, D.12
Trope, G.13
Kitazawa, Y.14
Ritch, R.15
Mackey, D.A.16
Alward, W.L.17
Sheffield, V.C.18
Stone, E.M.19
-
31
-
-
77049091589
-
Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients
-
[PMID: 19407846]
-
Ennis S, Gibson J, Griffiths H, Bunyan D, Cree AJ, Robinson D, Self J, MacLeod A, Lotery A. Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients. Eye (Lond) 2010; 24:328-33. [PMID: 19407846]
-
(2010)
Eye (Lond)
, vol.24
, pp. 328-333
-
-
Ennis, S.1
Gibson, J.2
Griffiths, H.3
Bunyan, D.4
Cree, A.J.5
Robinson, D.6
Self, J.7
McLeod, A.8
Lotery, A.9
-
32
-
-
0036956661
-
Myocilin mutations in a population-based sample of cases with open-angle glaucoma: The Rotterdam Study
-
[PMID: 12107514]
-
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. Albrecht Von Graefes Arch Klin Exp Ophthalmol 2002; 240:468-74. [PMID: 12107514]
-
(2002)
Albrecht Von Graefes Arch Klin 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
-
33
-
-
0346670121
-
Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma patients
-
[PMID: 14627955]
-
Kanagavalli J, Krishnadas SR, Pandaranayaka E, Krishnaswamy S, Sundaresan P. Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma patients. Mol Vis 2003; 9:606-14. [PMID: 14627955]
-
(2003)
Mol Vis
, vol.9
, pp. 606-614
-
-
Kanagavalli, J.1
Krishnadas, S.R.2
Pandaranayaka, E.3
Krishnaswamy, S.4
Sundaresan, P.5
-
34
-
-
0032231625
-
Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma
-
[PMID: 9792882]
-
Wiggs JL, Allingham RR, Vollrath D, Jones KH, De La Paz M, Kern J, Patterson K, Babb VL, Del Bono EA, Broomer BW, Pericak-Vance MA, Haines JL. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet 1998; 63:1549-52. [PMID: 9792882]
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1549-1552
-
-
Wiggs, J.L.1
Allingham, R.R.2
Vollrath, D.3
Jones, K.H.4
De La Paz, M.5
Kern, J.6
Patterson, K.7
Babb, V.L.8
Del Bono, E.A.9
Broomer, B.W.10
Pericak-Vance, M.A.11
Haines, J.L.12
-
35
-
-
18544373561
-
Founder TIGR/myocilin mutations for glaucoma in the Quebec population
-
[PMID: 12189160]
-
Faucher M, Anctil JL, Rodrigue MA, Duchesne A, Bergeron D, Blondeau P, Cote G, Dubois S, Bergeron J, Arseneault R, Morissette J, Raymond V. Founder TIGR/myocilin mutations for glaucoma in the Quebec population. Hum Mol Genet 2002; 11:2077-90. [PMID: 12189160]
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2077-2090
-
-
Faucher, M.1
Anctil, J.L.2
Rodrigue, M.A.3
Duchesne, A.4
Bergeron, D.5
Blondeau, P.6
Cote, G.7
Dubois, S.8
Bergeron, J.9
Arseneault, R.10
Morissette, J.11
Raymond, V.12
-
36
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
[PMID: 3344216]
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16:1215. [PMID: 3344216]
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
37
-
-
48949109588
-
Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations
-
[PMID: 18421074]
-
Liu Y, Schmidt S, Qin X, Gibson J, Hutchins K, Santiago-Turla C, Wiggs JL, Budenz DL, Akafo S, Challa P, Herndon LW, Hauser MA, Allingham RR. Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations. Invest Ophthalmol Vis Sci 2008; 49:3465-8. [PMID: 18421074]
-
(2008)
Invest Ophthalmol Vis Sci
, vol.49
, pp. 3465-3468
-
-
Liu, Y.1
Schmidt, S.2
Qin, X.3
Gibson, J.4
Hutchins, K.5
Santiago-Turla, C.6
Wiggs, J.L.7
Budenz, D.L.8
Akafo, S.9
Challa, P.10
Herndon, L.W.11
Hauser, M.A.12
Allingham, R.R.13
-
38
-
-
58049087454
-
Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma
-
[PMID: 19096531]
-
Liu Y, Akafo S, Santiago-Turla C, Cohen CS, Larocque-Abramson KR, Qin X, Herndon LW, Challa P, Schmidt S, Hauser MA, Allingham RR. Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma. Mol Vis 2008; 14:2367-72. [PMID: 19096531]
-
(2008)
Mol Vis
, vol.14
, pp. 2367-2372
-
-
Liu, Y.1
Akafo, S.2
Santiago-Turla, C.3
Cohen, C.S.4
Larocque-Abramson, K.R.5
Qin, X.6
Herndon, L.W.7
Challa, P.8
Schmidt, S.9
Hauser, M.A.10
Allingham, R.R.11
-
39
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
[PMID: 10547847]
-
Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000; 132:365-86. [PMID: 10547847]
-
(2000)
Methods Mol Biol
, vol.132
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.2
-
40
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
[PMID: 12824425]
-
Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31:3812-4. [PMID: 12824425]
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
41
-
-
0036713510
-
Human non-synonymous SNPs: Server and survey
-
[PMID: 12202775]
-
Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30:3894-900. [PMID: 12202775]
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
42
-
-
0042563065
-
Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation
-
[PMID: 12912696]
-
Mackey DA, Healey DL, Fingert JH, Coote MA, Wong TL, Wilkinson CH, McCartney PJ, Rait JL, de Graaf AP, Stone EM, Craig JE. Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation. Arch Ophthalmol 2003; 121:1172-80. [PMID: 12912696]
-
(2003)
Arch Ophthalmol
, vol.121
, pp. 1172-1180
-
-
Mackey, D.A.1
Healey, D.L.2
Fingert, J.H.3
Coote, M.A.4
Wong, T.L.5
Wilkinson, C.H.6
McCartney, P.J.7
Rait, J.L.8
de Graaf, A.P.9
Stone, E.M.10
Craig, J.E.11
-
43
-
-
0033829572
-
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma
-
[PMID: 11004290]
-
Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, Othman M, Moroi SE, Rozsa FW, Schertzer RM, Clarke MS, Schwartz AL, Downs CA, Vollrath D, Richards JE. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol 2000; 130:165-77. [PMID: 11004290]
-
(2000)
Am J Ophthalmol
, vol.130
, pp. 165-177
-
-
Shimizu, S.1
Lichter, P.R.2
Johnson, A.T.3
Zhou, Z.4
Higashi, M.5
Gottfredsdottir, M.6
Othman, M.7
Moroi, S.E.8
Rozsa, F.W.9
Schertzer, R.M.10
Clarke, M.S.11
Schwartz, A.L.12
Downs, C.A.13
Vollrath, D.14
Richards, J.E.15
-
44
-
-
17844383954
-
Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile-and adultonset primary open-angle glaucoma
-
[PMID: 15823921]
-
Puska P, Lemmela S, Kristo P, Sankila EM, Jarvela I. Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile-and adultonset primary open-angle glaucoma. Ophthalmic Genet 2005; 26:17-23. [PMID: 15823921]
-
(2005)
Ophthalmic Genet
, vol.26
, pp. 17-23
-
-
Puska, P.1
Lemmela, S.2
Kristo, P.3
Sankila, E.M.4
Jarvela, I.5
-
45
-
-
33644865523
-
A large GLC1C Greek family with a myocilin T377M mutation: Inheritance and phenotypic variability
-
[PMID: 16431959]
-
Petersen MB, Kitsos G, Samples JR, Gaudette ND, Economou-Petersen E, Sykes R, Rust K, Grigoriadou M, Aperis G, Choi D, Psilas K, Craig JE, Kramer PL, Mackey DA, Wirtz MK. A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability. Invest Ophthalmol Vis Sci 2006; 47:620-5. [PMID: 16431959]
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 620-625
-
-
Petersen, M.B.1
Kitsos, G.2
Samples, J.R.3
Gaudette, N.D.4
Economou-Petersen, E.5
Sykes, R.6
Rust, K.7
Grigoriadou, M.8
Aperis, G.9
Choi, D.10
Psilas, K.11
Craig, J.E.12
Kramer, P.L.13
Mackey, D.A.14
Wirtz, M.K.15
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