-
1
-
-
0021343891
-
Keratoconus and related noninflammatory corneal thinning disorders
-
[PMID: 6230745]
-
Krachmer JH, Feder RS, Belin MW. Keratoconus and related noninflammatory corneal thinning disorders. Surv Ophthalmol 1984; 28:293-322. [PMID: 6230745]
-
(1984)
Surv Ophthalmol
, vol.28
, pp. 293-322
-
-
Krachmer, J.H.1
Feder, R.S.2
Belin, M.W.3
-
2
-
-
0031914254
-
Keratoconus
-
[PMID: 9493273]
-
Rabinowitz YS. Keratoconus. Surv Ophthalmol 1998; 42:297-319. [PMID: 9493273]
-
(1998)
Surv Ophthalmol
, vol.42
, pp. 297-319
-
-
Rabinowitz, Y.S.1
-
3
-
-
0022577146
-
A 48-year clinical and epidemiologic study of keratoconus
-
[PMID: 3513592]
-
Kennedy RH, Bourne WM, Dyer JA. A 48-year clinical and epidemiologic study of keratoconus. Am J Ophthalmol 1986; 101:267-73. [PMID: 3513592]
-
(1986)
Am J Ophthalmol
, vol.101
, pp. 267-273
-
-
Kennedy, R.H.1
Bourne, W.M.2
Dyer, J.A.3
-
4
-
-
0345714659
-
Familial keratoconus with cataract: Linkage to the long arm of chromosome 15 and exclusion of candidate genes
-
[PMID: 14638698]
-
Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G. Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. Invest Ophthalmol Vis Sci 2003; 44:5063-6. [PMID: 14638698]
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 5063-5066
-
-
Hughes, A.E.1
Dash, D.P.2
Jackson, A.J.3
Frazer, D.G.4
Silvestri, G.5
-
5
-
-
0034726692
-
Genetic epidemiological study of keratoconus: Evidence for major gene determination
-
[PMID: 10951465]
-
Wang Y, Rabinowitz YS, Rotter JI, Yang H. Genetic epidemiological study of keratoconus: evidence for major gene determination. Am J Med Genet 2000; 93:403-9. [PMID: 10951465]
-
(2000)
Am J Med Genet
, vol.93
, pp. 403-409
-
-
Wang, Y.1
Rabinowitz, Y.S.2
Rotter, J.I.3
Yang, H.4
-
6
-
-
0036784886
-
A locus for autosomal dominant keratoconus: Linkage to 16q22.3-q23.1 in Finnish families
-
[PMID: 12356819]
-
Tyynismaa H, Sistonen P, Tuupanen S, Tervo T, Dammert A, Latvala T, Alitalo T. A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families. Invest Ophthalmol Vis Sci 2002; 43:3160-4. [PMID: 12356819]
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 3160-3164
-
-
Tyynismaa, H.1
Sistonen, P.2
Tuupanen, S.3
Tervo, T.4
Dammert, A.5
Latvala, T.6
Alitalo, T.7
-
7
-
-
1542616280
-
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13
-
[PMID: 14985379]
-
Brancati F, Valente EM, Sarkozy A, Fehèr J, Castori M, Del Duca P, Mingarelli R, Pizzuti A, Dallapiccola B. A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. J Med Genet 2004; 41:188-92. [PMID: 14985379]
-
(2004)
J Med Genet
, vol.41
, pp. 188-192
-
-
Brancati, F.1
Valente, E.M.2
Sarkozy, A.3
Fehèr, J.4
Castori, M.5
del Duca, P.6
Mingarelli, R.7
Pizzuti, A.8
Dallapiccola, B.9
-
8
-
-
0036566556
-
VSX1: A gene for posterior polymorphous dystrophy and keratoconus
-
[PMID: 11978762]
-
Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 2002; 11:1029-36. [PMID: 11978762]
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1029-1036
-
-
Héon, E.1
Greenberg, A.2
Kopp, K.K.3
Rootman, D.4
Vincent, A.L.5
Billingsley, G.6
Priston, M.7
Dorval, K.M.8
Chow, R.L.9
McInnes, R.R.10
Heathcote, G.11
Westall, C.12
Sutphin, J.E.13
Semina, E.14
Bremner, R.15
Stone, E.M.16
-
9
-
-
0345714659
-
Familial keratoconus with cataract: Linkage to the long arm of chromosome 15 and exclusion of candidate genes
-
[PMID: 14638698]
-
Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G. Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. Invest Ophthalmol Vis Sci 2003; 44:5063-6. [PMID: 14638698]
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 5063-5066
-
-
Hughes, A.E.1
Dash, D.P.2
Jackson, A.J.3
Frazer, D.G.4
Silvestri, G.5
-
10
-
-
0026694804
-
Molecular genetic analysis in autosomal dominant keratoconus
-
[PMID: 1358551]
-
Rabinowitz YS, Maumenee IH, Lundergan MK, Puffenberger E, Zhu D, Antonarakis S, Francomano CA. Molecular genetic analysis in autosomal dominant keratoconus. Cornea 1992; 11:302-8. [PMID: 1358551]
-
(1992)
Cornea
, vol.11
, pp. 302-308
-
-
Rabinowitz, Y.S.1
Maumenee, I.H.2
Lundergan, M.K.3
Puffenberger, E.4
Zhu, D.5
Antonarakis, S.6
Francomano, C.A.7
-
11
-
-
0036590069
-
Identity-by-descent approach to gene localization in eight individuals affected by keratoconus from north-west Tasmania, Australia
-
[PMID: 12073017]
-
Fullerton J, Paprocki P, Foote S, Mackey DA, Williamson R, Forrest S. Identity-by-descent approach to gene localization in eight individuals affected by keratoconus from north-west Tasmania, Australia. Hum Genet 2002; 110:462-70. [PMID: 12073017]
-
(2002)
Hum Genet
, vol.110
, pp. 462-470
-
-
Fullerton, J.1
Paprocki, P.2
Foote, S.3
McKey, D.A.4
Williamson, R.5
Forrest, S.6
-
12
-
-
50249087421
-
VSX1 gene variants are associated with keratoconus in unrelated Korean patients
-
[PMID: 18626569]
-
Mok JW, Baek SJ, Joo CK. VSX1 gene variants are associated with keratoconus in unrelated Korean patients. J Hum Genet 2008; 53:842-9. [PMID: 18626569]
-
(2008)
J Hum Genet
, vol.53
, pp. 842-849
-
-
Mok, J.W.1
Baek, S.J.2
Joo, C.K.3
-
13
-
-
73449087017
-
A novel VSX1 mutation identified in an individual with keratoconus in India
-
[PMID: 19956409]
-
Paliwal P, Singh A, Tandon R, Titiyal JS, Sharma A. A novel VSX1 mutation identified in an individual with keratoconus in India. Mol Vis 2009; 15:2475-9. [PMID: 19956409]
-
(2009)
Mol Vis
, vol.15
, pp. 2475-2479
-
-
Paliwal, P.1
Singh, A.2
Tandon, R.3
Titiyal, J.S.4
Sharma, A.5
-
14
-
-
0036566556
-
VSX1: A gene for posterior polymorphous dystrophy and keratoconus
-
[PMID: 11978762]
-
Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 2002; 11:1029-36. [PMID: 11978762]
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1029-1036
-
-
Héon, E.1
Greenberg, A.2
Kopp, K.K.3
Rootman, D.4
Vincent, A.L.5
Billingsley, G.6
Priston, M.7
Dorval, K.M.8
Chow, R.L.9
McInnes, R.R.10
Heathcote, G.11
Westall, C.12
Sutphin, J.E.13
Semina, E.14
Bremner, R.15
Stone, E.M.16
-
15
-
-
77953556702
-
Mutational screening of VSX1 in keratoconus patients from European population
-
[PMID: 19763142]
-
Dash DP, George S, O'Prey D, Burns D, Nabili S, Donnelly U, Hughes AE, Silvestri G, Jackson J, Frazer D, Heon E, Willoughby CE. Mutational screening of VSX1 in keratoconus patients from European population. Eye 2010; 24:1085-92. [PMID: 19763142]
-
(2010)
Eye
, vol.24
, pp. 1085-1092
-
-
Dash, D.P.1
George, S.2
O'Prey, D.3
Burns, D.4
Nabili, S.5
Donnelly, U.6
Hughes, A.E.7
Silvestri, G.8
Jackson, J.9
Frazer, D.10
Heon, E.11
Willoughby, C.E.12
-
16
-
-
0034007794
-
Isolation and characterization of a novel human paired-like homeodomaincontaining transcription factor gene, VSX1, expressed in ocular tissues
-
[PMID: 10673340]
-
Semina EV, Mintz-Hittner HA, Murray JC. Isolation and characterization of a novel human paired-like homeodomaincontaining transcription factor gene, VSX1, expressed in ocular tissues. Genomics 2000; 63:289-93. [PMID: 10673340]
-
(2000)
Genomics
, vol.63
, pp. 289-293
-
-
Semina, E.V.1
Mintz-Hittner, H.A.2
Murray, J.C.3
-
17
-
-
0034661280
-
RINX (VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina
-
[PMID: 10903837]
-
Hayashi T, Huang J, Deeb SS. RINX (VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina. Genomics 2000; 67:128-39. [PMID: 10903837]
-
(2000)
Genomics
, vol.67
, pp. 128-139
-
-
Hayashi, T.1
Huang, J.2
Deeb, S.S.3
-
18
-
-
13344249785
-
Ocular retardation mouse caused by Chx10 homeobox null allele: Impaired retinal progenitor proliferation and bipolar cell differentiation
-
[PMID: 8630490]
-
Burmeister M, Novak J, Liang MY, Basu S, Ploder L, Hawes NL, Vidgen D, Hoover F, Goldman D, Kalnins VI, Roderick TH, Taylor BA, Hankin MH, McInnes RR. Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation. Nat Genet 1996; 12:376-84. [PMID: 8630490]
-
(1996)
Nat Genet
, vol.12
, pp. 376-384
-
-
Burmeister, M.1
Novak, J.2
Liang, M.Y.3
Basu, S.4
Ploder, L.5
Hawes, N.L.6
Vidgen, D.7
Hoover, F.8
Goldman, D.9
Kalnins, V.I.10
Roderick, T.H.11
Taylor, B.A.12
Hankin, M.H.13
McInnes, R.R.14
-
19
-
-
0035193503
-
Vsx1, a rapidly evolving paired-like homeobox gene expressed in cone bipolar cells
-
[PMID: 11731243]
-
Chow RL, Snow B, Novak J, Looser J, Freund C, Vidgen D, Ploder L, McInnes RR. Vsx1, a rapidly evolving paired-like homeobox gene expressed in cone bipolar cells. Mech Dev 2001; 109:315-22. [PMID: 11731243]
-
(2001)
Mech Dev
, vol.109
, pp. 315-322
-
-
Chow, R.L.1
Snow, B.2
Novak, J.3
Looser, J.4
Freund, C.5
Vidgen, D.6
Ploder, L.7
McInnes, R.R.8
-
20
-
-
19944416896
-
VSX1 mutational analysis in a series of Italian patients affected by keratoconus: Detection of a novel mutation
-
[PMID: 15623752]
-
Bisceglia L, Ciaschetti M, De Bonis P, Campo PA, Pizzicoli C, Scala C, Grifa M, Ciavarella P, Delle Noci N, Vaira F, Macaluso C, Zelante L. VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. Invest Ophthalmol Vis Sci 2005; 46:39-45. [PMID: 15623752]
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 39-45
-
-
Bisceglia, L.1
Ciaschetti, M.2
De Bonis, P.3
Campo, P.A.4
Pizzicoli, C.5
Scala, C.6
Grifa, M.7
Ciavarella, P.8
Delle Noci, N.9
Vaira, F.10
McAluso, C.11
Zelante, L.12
-
21
-
-
45849092577
-
The D144E substitution in the VSX1 gene: A nonpathogenic variant or a disease causing mutation
-
[PMID: 18484309]
-
Eran P, Almogit A, David Z, Wolf HR, Hana G, Yaniv B, Elon P, Isaac A. The D144E substitution in the VSX1 gene: a nonpathogenic variant or a disease causing mutation. Ophthalmic Genet 2008; 29:53-9. [PMID: 18484309]
-
(2008)
Ophthalmic Genet
, vol.29
, pp. 53-59
-
-
Eran, P.1
Almogit, A.2
David, Z.3
Wolf, H.R.4
Hana, G.5
Yaniv, B.6
Elon, P.7
Isaac, A.8
-
22
-
-
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
-
23
-
-
0035869223
-
Kondrashiv, Bork P. Prediction of deleterious human alleles
-
[PMID: 11230178]
-
Sunyaev S, Ramensky V, Koch I, Lathe W III. Kondrashiv, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001; 10:591-7. [PMID: 11230178]
-
(2001)
Hum Mol Genet
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe III, W.4
-
24
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
[PMID: 19561590]
-
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4:1073-81. [PMID: 19561590]
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
25
-
-
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
-
28
-
-
17344365347
-
Mutation hot-spot in 5q31-linked corneal dystrophies
-
[PMID: 9463327]
-
Korvatska E, Munier FL, Djemal A, Wang MX, Frueh B, Chiou AG, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culbertson WW, Boman H, Zografos L, Schorderet DF. Mutation hot-spot in 5q31-linked corneal dystrophies. Am J Hum Genet 1998; 62:320-4. [PMID: 9463327]
-
(1998)
Am J Hum Genet
, vol.62
, pp. 320-324
-
-
Korvatska, E.1
Munier, F.L.2
Djemal, A.3
Wang, M.X.4
Frueh, B.5
Chiou, A.G.6
Uffer, S.7
Ballestrazzi, E.8
Braunstein, R.E.9
Forster, R.K.10
Culbertson, W.W.11
Boman, H.12
Zografos, L.13
Schorderet, D.F.14
-
29
-
-
33746705124
-
No VSX1 gene mutations associated with keratoconus
-
[PMID: 16799019]
-
Aldave AJ, Yellore VS, Salem AK, Yoo GL, Rayner SA, Yang H, Tang GY, Piconell Y, Rabinowitz YS. No VSX1 gene mutations associated with keratoconus. Invest Ophthalmol Vis Sci 2006; 47:2820-2. [PMID: 16799019]
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 2820-2822
-
-
Aldave, A.J.1
Yellore, V.S.2
Salem, A.K.3
Yoo, G.L.4
Rayner, S.A.5
Yang, H.6
Tang, G.Y.7
Piconell, Y.8
Rabinowitz, Y.S.9
-
30
-
-
35148812750
-
Molecular analysis of the VSX1 gene in familial keratoconus
-
[PMID: 17960127]
-
Liskova P, Ebenezer ND, Hysi PG, Gwilliam R, El-Ashry MF, Moodaley LC, Hau S, Twa M, Tuft SJ, Bhatacharya SS. Molecular analysis of the VSX1 gene in familial keratoconus. Mol Vis 2007; 13:1887-91. [PMID: 17960127]
-
(2007)
Mol Vis
, vol.13
, pp. 1887-1891
-
-
Liskova, P.1
Ebenezer, N.D.2
Hysi, P.G.3
Gwilliam, R.4
El-Ashry, M.F.5
Moodaley, L.C.6
Hau, S.7
Twa, M.8
Tuft, S.J.9
Bhatacharya, S.S.10
-
31
-
-
38549098491
-
Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus
-
[PMID: 18216574]
-
Tang YG, Picornell Y, Su X, Li X, Yang H, Rabinowitz YS. Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. Cornea 2008; 27:189-92. [PMID: 18216574]
-
(2008)
Cornea
, vol.27
, pp. 189-192
-
-
Tang, Y.G.1
Picornell, Y.2
Su, X.3
Li, X.4
Yang, H.5
Rabinowitz, Y.S.6
-
32
-
-
77649176897
-
Absence of pathogenic mutations in VSX1 and SOD genes in patients with keratoconus
-
[PMID: 20023586]
-
Stabuc-Silih M, Strazisar M, Hawlina M, Glavac D. Absence of pathogenic mutations in VSX1 and SOD genes in patients with keratoconus. Cornea 2010; 29:172-6. [PMID: 20023586]
-
(2010)
Cornea
, vol.29
, pp. 172-176
-
-
Stabuc-Silih, M.1
Strazisar, M.2
Hawlina, M.3
Glavac, D.4
-
33
-
-
77955811852
-
Genetics and clinical characterstics of keratoconus
-
[PMID: 20664914]
-
Stabuc-Silih M, Strazisar M, Ravnik-Glavak M, Hawlina M, Glavac D. Genetics and clinical characterstics of keratoconus. Acta Dermatovenerol Alp Panonica Adriat 2010; 19:3-10. [PMID: 20664914]
-
(2010)
Acta Dermatovenerol Alp Panonica Adriat
, vol.19
, pp. 3-10
-
-
Stabuc-Silih, M.1
Strazisar, M.2
Ravnik-Glavak, M.3
Hawlina, M.4
Glavac, D.5
-
34
-
-
64049099287
-
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32
-
[PMID: 19011015]
-
Gajecka M, Radhakrishna U, Winters D, Nath SK, Rydzanicz M, Ratnamala U, Ewing K, Molinari A, Pitarque JA, Lee K, Leal SM, Bejjani BA. Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. Invest Ophthalmol Vis Sci 2009; 50:1531-9. [PMID: 19011015]
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 1531-1539
-
-
Gajecka, M.1
Radhakrishna, U.2
Winters, D.3
Nath, S.K.4
Rydzanicz, M.5
Ratnamala, U.6
Ewing, K.7
Molinari, A.8
Pitarque, J.A.9
Lee, K.10
Leal, S.M.11
Bejjani, B.A.12
|