Published in BMC Med Genet on November 10, 2010
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Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet (2005) 1.81
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis (2010) 1.75
A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci (2004) 1.71
A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. Invest Ophthalmol Vis Sci (2004) 1.70
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Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Hum Genet (2004) 1.66
Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. BMC Ophthalmol (2010) 1.59
Single session of Pascal versus multiple sessions of conventional laser for panretinal photocoagulation in proliferative diabetic retinopathy: a comparitive study. Retina (2011) 1.57
Real-time polymerase chain reaction in the diagnosis of acute postoperative endophthalmitis. Am J Ophthalmol (2012) 1.53
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Hum Mol Genet (2007) 1.47
A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612. Mol Vis (2005) 1.47
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet (2010) 1.46
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. Hum Genet (2007) 1.36
Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy. Am J Hum Genet (2005) 1.35
Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma patients. Mol Vis (2003) 1.35
Developing a screening program to detect sight-threatening diabetic retinopathy in South India. Diabetes Care (2003) 1.35
A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Invest Ophthalmol Vis Sci (2005) 1.34
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Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. PLoS One (2011) 1.33
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet (2009) 1.32
A new locus for autosomal recessive congenital cataract identified in a Pakistani family. Mol Vis (2010) 1.30
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Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet (2006) 1.29
A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family. Mol Vis (2007) 1.27
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. Mol Vis (2007) 1.27
Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet (2011) 1.26
Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure. Proc Natl Acad Sci U S A (2009) 1.22
A comparison of brilliant blue G, trypan blue, and indocyanine green dyes to assist internal limiting membrane peeling during macular hole surgery. Retina (2011) 1.20
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betaA3/A1-crystallin in astroglial cells regulates retinal vascular remodeling during development. Mol Cell Neurosci (2007) 1.18
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CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies. PLoS One (2012) 1.16
Methionine sulfoxide reductases B1, B2, and B3 are present in the human lens and confer oxidative stress resistance to lens cells. Invest Ophthalmol Vis Sci (2005) 1.15
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Familial exudative vitreoretinopathy (FEVR). Clinical profile and management. Indian J Ophthalmol (2003) 1.07
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet (2010) 1.05
Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. Mol Vis (2004) 1.05
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. Invest Ophthalmol Vis Sci (2011) 1.05
ABCB6 mutations cause ocular coloboma. Am J Hum Genet (2012) 1.04
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GNAT1 associated with autosomal recessive congenital stationary night blindness. Invest Ophthalmol Vis Sci (2012) 1.03
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. Invest Ophthalmol Vis Sci (2009) 1.03
Mutations in NYX of individuals with high myopia, but without night blindness. Mol Vis (2007) 1.03
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Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. Invest Ophthalmol Vis Sci (2005) 1.00
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Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. Br J Ophthalmol (2010) 1.00
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. Hum Mol Genet (2013) 0.99
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. Hum Genet (2006) 0.99
Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35. Hum Genet (2003) 0.99
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. Invest Ophthalmol Vis Sci (2006) 0.99
Clinico-microbiological profile and visual outcomes of post-traumatic endophthalmitis at a tertiary eye care center in South India. Indian J Ophthalmol (2006) 0.98
Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations. Hum Mutat (2011) 0.98
Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families. Mol Vis (2006) 0.97
The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress. Biochemistry (2009) 0.97
Vitrectomy for circumscribed choroidal hemangioma with exudative retinal detachment refractory to transpupillary thermotherapy. Indian J Ophthalmol (2007) 0.97
PAX6 gene variations associated with aniridia in south India. BMC Med Genet (2004) 0.96
A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2010) 0.95
Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. Mol Vis (2011) 0.94
Spatial expression patterns of autophagy genes in the eye lens and induction of autophagy in lens cells. Mol Vis (2012) 0.94
Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. Mol Vis (2006) 0.94
Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis. Mol Vis (2007) 0.93
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1. Mol Vis (2010) 0.93
Macular ischaemia as a marker for nephropathy in diabetic retinopathy. Indian J Ophthalmol (2004) 0.92
Chronic retinal pigment epithelial detachments with unusual clinical, angiographic, and tomographic presentations. Ophthalmic Surg Lasers Imaging (2008) 0.92
Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. Mol Vis (2004) 0.92
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Management of rhegmatogenous retinal detachment with coexisting macular hole: a comparison of vitrectomy with and without internal limiting membrane peeling. Retina (2013) 0.92
Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population. Mol Vis (2003) 0.92
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Evaluation of the association between OPA1 polymorphisms and primary open-angle glaucoma in Barbados families. Mol Vis (2006) 0.91
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Hum Genet (2005) 0.91
Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy. Am J Ophthalmol (2006) 0.90
Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families. Mol Vis (2008) 0.90
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A review of genetic and structural understanding of the role of myocilin in primary open angle glaucoma. Indian J Ophthalmol (2004) 0.89
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