-
1
-
-
0037230316
-
Paediatric cataract blindness in the developing world: Surgical techniques and intraocular lenses in the new millennium
-
[PMID: 12488254]
-
Wilson ME, Pandey SK, Thakur J. Paediatric cataract blindness in the developing world: surgical techniques and intraocular lenses in the new millennium. Br J Ophthalmol 2003; 87:14-9. [PMID: 12488254]
-
(2003)
Br J Ophthalmol
, vol.87
, pp. 14-19
-
-
Wilson, M.E.1
Pandey, S.K.2
Thakur, J.3
-
2
-
-
1942468794
-
Molecular genetic basis of inherited cataract and associated phenotypes
-
[PMID: 15110667]
-
Reddy MA, Francis PJ, Berry V, Bhattacharya SS, Moore AT. Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol 2004; 49:300-15. [PMID: 15110667]
-
(2004)
Surv Ophthalmol
, vol.49
, pp. 300-315
-
-
Reddy, M.A.1
Francis, P.J.2
Berry, V.3
Bhattacharya, S.S.4
Moore, A.T.5
-
3
-
-
0032539587
-
Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain
-
[PMID: 9489793]
-
Bermejo E, Martinez-Frias ML. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet 1998; 75:497-504. [PMID: 9489793]
-
(1998)
Am J Med Genet
, vol.75
, pp. 497-504
-
-
Bermejo, E.1
Martinez-Frias, M.L.2
-
4
-
-
39149086399
-
Congenital cataracts and their molecular genetics
-
[PMID: 18035564]
-
Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 2008; 19:134-49. [PMID: 18035564]
-
(2008)
Semin Cell Dev Biol
, vol.19
, pp. 134-149
-
-
Hejtmancik, J.F.1
-
5
-
-
78149488289
-
Cat-Map: Putting cataract on the map
-
[PMID: 21042563]
-
Shiels A, Bennett TM, Hejtmancik JF. Cat-Map: putting cataract on the map. Mol Vis 2010; 16:2007-15. [PMID: 21042563]
-
(2010)
Mol Vis
, vol.16
, pp. 2007-2015
-
-
Shiels, A.1
Bennett, T.M.2
Hejtmancik, J.F.3
-
6
-
-
35148832522
-
Genetic heterogeneity in microcornea-cataract: Five novel mutations in CRYAA, CRYGD, and GJA8
-
[PMID: 17724170]
-
Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci 2007; 48:3937-44. [PMID: 17724170]
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 3937-3944
-
-
Hansen, L.1
Yao, W.2
Eiberg, H.3
Kjaer, K.W.4
Baggesen, K.5
Hejtmancik, J.F.6
Rosenberg, T.7
-
7
-
-
0031934121
-
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
-
[PMID: 9467006]
-
Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet 1998; 7:471-4. [PMID: 9467006]
-
(1998)
Hum Mol Genet
, vol.7
, pp. 471-474
-
-
Litt, M.1
Kramer, P.2
Lamorticella, D.M.3
Murphey, W.4
Lovrien, E.W.5
Weleber, R.G.6
-
8
-
-
41849150778
-
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA)
-
[PMID: 18302245]
-
Richter L, Flodman P, Barria von-Bischhoffshausen F, Burch D, Brown S, Nguyen L, Turner J, Spence MA, Bateman JB. Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). Am J Med Genet A 2008; 146:833-42. [PMID: 18302245]
-
(2008)
Am J Med Genet A
, vol.146
, pp. 833-842
-
-
Richter, L.1
Flodman, P.2
von-Bischhoffshausen, B.F.3
Burch, D.4
Brown, S.5
Nguyen, L.6
Turner, J.7
Spence, M.A.8
Bateman, J.B.9
-
9
-
-
33646888160
-
A novel fan-shaped cataractmicrocornea syndrome caused by a mutation of CRYAA in an Indian family
-
[PMID: 16735993]
-
Vanita V, Singh JR, Hejtmancik JF, Nuernberg P, Hennies HC, Singh D, Sperling K. A novel fan-shaped cataractmicrocornea syndrome caused by a mutation of CRYAA in an Indian family. Mol Vis 2006; 12:518-22. [PMID: 16735993]
-
(2006)
Mol Vis
, vol.12
, pp. 518-522
-
-
Vanita, V.1
Singh, J.R.2
Hejtmancik, J.F.3
Nuernberg, P.4
Hennies, H.C.5
Singh, D.6
Sperling, K.7
-
10
-
-
67149129947
-
An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response
-
[PMID: 19503744]
-
Zhang LY, Yam GH, Tam PO, Lai RY, Lam DS, Pang CP, Fan DS. An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response. Mol Vis 2009; 15:1127-38. [PMID: 19503744]
-
(2009)
Mol Vis
, vol.15
, pp. 1127-1138
-
-
Zhang, L.Y.1
Yam, G.H.2
Tam, P.O.3
Lai, R.Y.4
Lam, D.S.5
Pang, C.P.6
Fan, D.S.7
-
11
-
-
77955616552
-
A missense mutation in CRYBA4 associated with congenital cataract and microcornea
-
[PMID: 20577656]
-
Zhou G, Zhou N, Hu S, Zhao L, Zhang C, Qi Y. A missense mutation in CRYBA4 associated with congenital cataract and microcornea. Mol Vis 2010; 16:1019-24. [PMID: 20577656]
-
(2010)
Mol Vis
, vol.16
, pp. 1019-1024
-
-
Zhou, G.1
Zhou, N.2
Hu, S.3
Zhao, L.4
Zhang, C.5
Qi, Y.6
-
12
-
-
26244461031
-
CRYBB1 mutation associated with congenital cataract and microcornea
-
[PMID: 16110300]
-
Willoughby CE, Shafiq A, Ferrini W, Chan LL, Billingsley G, Priston M, Mok C, Chandna A, Kaye S, Heon E. CRYBB1 mutation associated with congenital cataract and microcornea. Mol Vis 2005; 11:587-93. [PMID: 16110300]
-
(2005)
Mol Vis
, vol.11
, pp. 587-593
-
-
Willoughby, C.E.1
Shafiq, A.2
Ferrini, W.3
Chan, L.L.4
Billingsley, G.5
Priston, M.6
Mok, C.7
Chandna, A.8
Kaye, S.9
Heon, E.10
-
13
-
-
61449152094
-
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea
-
[PMID: 19204787]
-
Zhang L, Fu S, Ou Y, Zhao T, Su Y, Liu P. A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. Mol Vis 2009; 15:276-82. [PMID: 19204787]
-
(2009)
Mol Vis
, vol.15
, pp. 276-282
-
-
Zhang, L.1
Fu, S.2
Ou, Y.3
Zhao, T.4
Su, Y.5
Liu, P.6
-
14
-
-
79952586085
-
Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts
-
[PMID: 21402992]
-
Wang KJ, Wang BB, Zhang F, Zhao Y, Ma X, Zhu SQ. Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts. Arch Ophthalmol 2011; 129:337-43. [PMID: 21402992]
-
(2011)
Arch Ophthalmol
, vol.129
, pp. 337-343
-
-
Wang, K.J.1
Wang, B.B.2
Zhang, F.3
Zhao, Y.4
Ma, X.5
Zhu, S.Q.6
-
15
-
-
33645115350
-
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea
-
[PMID: 16604058]
-
Devi RR, Vijayalakshmi P. Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. Mol Vis 2006; 12:190-5. [PMID: 16604058]
-
(2006)
Mol Vis
, vol.12
, pp. 190-195
-
-
Devi, R.R.1
Vijayalakshmi, P.2
-
16
-
-
35548956910
-
Novel MAF mutation in a family with congenital cataract-microcornea syndrome
-
[PMID: 17982426]
-
Hansen L, Eiberg H, Rosenberg T. Novel MAF mutation in a family with congenital cataract-microcornea syndrome. Mol Vis 2007; 13:2019-22. [PMID: 17982426]
-
(2007)
Mol Vis
, vol.13
, pp. 2019-2022
-
-
Hansen, L.1
Eiberg, H.2
Rosenberg, T.3
-
17
-
-
33644861131
-
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family
-
[PMID: 16470690]
-
Vanita V, Singh D, Robinson PN, Sperling K, Singh JR. A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. Am J Med Genet A 2006; 140:558-66. [PMID: 16470690]
-
(2006)
Am J Med Genet A
, vol.140
, pp. 558-566
-
-
Vanita, V.1
Singh, D.2
Robinson, P.N.3
Sperling, K.4
Singh, J.R.5
-
18
-
-
41149175217
-
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria
-
[PMID: 18304496]
-
Kloeckener-Gruissem B, Vandekerckhove K, Nurnberg G, Neidhardt J, Zeitz C, Nurnberg P, Schipper I, Berger W. Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Am J Hum Genet 2008; 82:772-9. [PMID: 18304496]
-
(2008)
Am J Hum Genet
, vol.82
, pp. 772-779
-
-
Kloeckener-Gruissem, B.1
Vandekerckhove, K.2
Nurnberg, G.3
Neidhardt, J.4
Zeitz, C.5
Nurnberg, P.6
Schipper, I.7
Berger, W.8
-
19
-
-
77955592717
-
A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree
-
[PMID: 20806042]
-
Hu S, Wang B, Zhou Z, Zhou G, Wang J, Ma X, Qi Y. A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree. Mol Vis 2010; 16:1585-92. [PMID: 20806042]
-
(2010)
Mol Vis
, vol.16
, pp. 1585-1592
-
-
Hu, S.1
Wang, B.2
Zhou, Z.3
Zhou, G.4
Wang, J.5
Ma, X.6
Qi, Y.7
-
20
-
-
0345270026
-
Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family
-
[PMID: 12642301]
-
Jamieson RV, Munier F, Balmer A, Farrar N, Perveen R, Black GC. Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. Br J Ophthalmol 2003; 87:411-2. [PMID: 12642301]
-
(2003)
Br J Ophthalmol
, vol.87
, pp. 411-412
-
-
Jamieson, R.V.1
Munier, F.2
Balmer, A.3
Farrar, N.4
Perveen, R.5
Black, G.C.6
-
21
-
-
36249024863
-
Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C)
-
[PMID: 17937925]
-
Khan AO, Aldahmesh MA, Meyer B. Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C). Am J Ophthalmol 2007; 144:949-52. [PMID: 17937925]
-
(2007)
Am J Ophthalmol
, vol.144
, pp. 949-952
-
-
Khan, A.O.1
Aldahmesh, M.A.2
Meyer, B.3
-
22
-
-
77952299473
-
Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia
-
[PMID: 20208987]
-
Wang Q, Wang P, Li S, Xiao X, Jia X, Guo X, Kong QP, Yao YG, Zhang Q. Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia. Mol Vis 2010; 16:303-9. [PMID: 20208987]
-
(2010)
Mol Vis
, vol.16
, pp. 303-309
-
-
Wang, Q.1
Wang, P.2
Li, S.3
Xiao, X.4
Jia, X.5
Guo, X.6
Kong, Q.P.7
Yao, Y.G.8
Zhang, Q.9
-
23
-
-
67649992702
-
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract
-
[PMID: 19182255]
-
Hansen L, Mikkelsen A, Nurnberg P, Nurnberg G, Anjum I, Eiberg H, Rosenberg T. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci 2009; 50:3291-303. [PMID: 19182255]
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 3291-3303
-
-
Hansen, L.1
Mikkelsen, A.2
Nurnberg, P.3
Nurnberg, G.4
Anjum, I.5
Eiberg, H.6
Rosenberg, T.7
-
24
-
-
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
-
25
-
-
79957621519
-
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed
-
[PMID: 21480434]
-
Hicks S, Wheeler DA, Plon SE, Kimmel M. Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed. Hum Mutat 2011; 32:661-8. [PMID: 21480434]
-
(2011)
Hum Mutat
, vol.32
, pp. 661-668
-
-
Hicks, S.1
Wheeler, D.A.2
Plon, S.E.3
Kimmel, M.4
-
26
-
-
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
-
27
-
-
0029770039
-
Cloning, expression, and chaperone-like activity of human alphaAcrystallin
-
[PMID: 8943244]
-
Andley UP, Mathur S, Griest TA, Petrash JM. Cloning, expression, and chaperone-like activity of human alphaAcrystallin. J Biol Chem 1996; 271:31973-80. [PMID: 8943244]
-
(1996)
J Biol Chem
, vol.271
, pp. 31973-31980
-
-
Andley, U.P.1
Mathur, S.2
Griest, T.A.3
Petrash, J.M.4
-
28
-
-
65349103586
-
Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families
-
[PMID: 19390652]
-
Santana A, Waiswol M, Arcieri ES, Cabral de Vasconcellos JP, Barbosa de Melo M. Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. Mol Vis 2009; 15:793-800. [PMID: 19390652]
-
(2009)
Mol Vis
, vol.15
, pp. 793-800
-
-
Santana, A.1
Waiswol, M.2
Arcieri, E.S.3
de Vasconcellos, C.J.P.4
de Melo, B.M.5
-
29
-
-
46349084043
-
Crystallin gene mutations in Indian families with inherited pediatric cataract
-
[PMID: 18587492]
-
Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF. Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis 2008; 14:1157-70. [PMID: 18587492]
-
(2008)
Mol Vis
, vol.14
, pp. 1157-1170
-
-
Devi, R.R.1
Yao, W.2
Vijayalakshmi, P.3
Sergeev, Y.V.4
Sundaresan, P.5
Hejtmancik, J.F.6
-
30
-
-
0032476578
-
Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts
-
[PMID: 9813099]
-
White TW, Goodenough DA, Paul DL. Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts. J Cell Biol 1998; 143:815-25. [PMID: 9813099]
-
(1998)
J Cell Biol
, vol.143
, pp. 815-825
-
-
White, T.W.1
Goodenough, D.A.2
Paul, D.L.3
-
31
-
-
0036023359
-
Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation
-
[PMID: 11782410]
-
Rong P, Wang X, Niesman I, Wu Y, Benedetti LE, Dunia I, Levy E, Gong X. Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation. Development 2002; 129:167-74. [PMID: 11782410]
-
(2002)
Development
, vol.129
, pp. 167-174
-
-
Rong, P.1
Wang, X.2
Niesman, I.3
Wu, Y.4
Benedetti, L.E.5
Dunia, I.6
Levy, E.7
Gong, X.8
-
32
-
-
73349108083
-
A mutant connexin50 with enhanced hemichannel function leads to cell death
-
[PMID: 19684000]
-
Minogue PJ, Tong JJ, Arora A, Russell-Eggitt I, Hunt DM, Moore AT, Ebihara L, Beyer EC, Berthoud VM. A mutant connexin50 with enhanced hemichannel function leads to cell death. Invest Ophthalmol Vis Sci 2009; 50:5837-45. [PMID: 19684000]
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 5837-5845
-
-
Minogue, P.J.1
Tong, J.J.2
Arora, A.3
Russell-Eggitt, I.4
Hunt, D.M.5
Moore, A.T.6
Ebihara, L.7
Beyer, E.C.8
Berthoud, V.M.9
-
33
-
-
34548826683
-
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
-
[PMID: 17601931]
-
Ponnam SP, Ramesha K, Tejwani S, Ramamurthy B, Kannabiran C. Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. J Med Genet 2007; 44:e85. [PMID: 17601931]
-
(2007)
J Med Genet
, vol.44
-
-
Ponnam, S.P.1
Ramesha, K.2
Tejwani, S.3
Ramamurthy, B.4
Kannabiran, C.5
|