Published in Mol Vis on February 18, 2003
Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations. Case Rep Med (2010) 0.99
[Morphology, family history, and age at diagnosis of 26 patients with Axenfeld-Rieger syndrome and glaucoma or ocular hypertension]. Ophthalmologe (2006) 0.91
A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome. Mol Vis (2013) 0.84
Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies. Mol Vis (2009) 0.81
Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability. PLoS One (2015) 0.79
Keeping an eye on SOXC proteins. Dev Dyn (2014) 0.77
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma. PLoS One (2016) 0.77
Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome. Mol Vis (2007) 0.76
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants. Eur J Hum Genet (2017) 0.76
FOXC1-associated phenotypes in humans may not always exhibit corneal neovascularization. Proc Natl Acad Sci U S A (2012) 0.75
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma. Hum Genet (2017) 0.75
A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations. Front Cardiovasc Med (2017) 0.75
Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome. J Ophthalmol (2017) 0.75
The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis. Am J Epidemiol (2012) 2.87
Simple limbal epithelial transplantation (SLET): a novel surgical technique for the treatment of unilateral limbal stem cell deficiency. Br J Ophthalmol (2012) 1.73
Clinical outcomes of xeno-free autologous cultivated limbal epithelial transplantation: a 10-year study. Br J Ophthalmol (2011) 1.66
Molecular and cellular assessment of ginkgo biloba extract as a possible ophthalmic drug. Exp Eye Res (2002) 1.48
Systematic review and meta-analysis of the association between complement component 3 and age-related macular degeneration: a HuGE review and meta-analysis. Am J Epidemiol (2011) 1.42
Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients. Invest Ophthalmol Vis Sci (2008) 1.28
Smoking and its association with cataract: results of the Andhra Pradesh eye disease study from India. Invest Ophthalmol Vis Sci (2005) 1.24
Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. Mol Vis (2004) 1.19
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. Invest Ophthalmol Vis Sci (2002) 1.18
Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a global marker for age-related macular degeneration. Invest Ophthalmol Vis Sci (2006) 1.15
The molecular genetic basis of age-related macular degeneration: an overview. J Genet (2009) 1.15
Primary Congenital Glaucoma and the Involvement of CYP1B1. Middle East Afr J Ophthalmol (2011) 1.10
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet (2012) 1.06
Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function. Dis Model Mech (2011) 1.06
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. Eur J Hum Genet (2010) 1.03
A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants. Invest Ophthalmol Vis Sci (2007) 1.02
Population based outcomes of cataract surgery in three tribal areas of Andhra Pradesh, India: risk factors for poor outcomes. PLoS One (2012) 1.02
In vitro culture and expansion of human limbal epithelial cells. Nat Protoc (2010) 1.02
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat (2011) 1.01
Lack of association of three primary open-angle glaucoma-susceptible loci with primary glaucomas in an Indian population. Proc Natl Acad Sci U S A (2009) 1.01
Mie light scattering calculations for an Indian age-related nuclear cataract with a high density of multilamellar bodies. Mol Vis (2008) 0.99
Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. Invest Ophthalmol Vis Sci (2003) 0.98
Changing trends in the prevalence of blindness and visual impairment in a rural district of India: systematic observations over a decade. Indian J Ophthalmol (2012) 0.97
Complex genetic mechanisms in glaucoma: an overview. Indian J Ophthalmol (2011) 0.97
Exfoliation syndrome and exfoliation glaucoma-associated LOXL1 variations are not involved in pigment dispersion syndrome and pigmentary glaucoma. Mol Vis (2008) 0.96
Focus on molecules: optineurin. Exp Eye Res (2007) 0.96
Mutation causing self-aggregation in human gammaC-crystallin leading to congenital cataract. Invest Ophthalmol Vis Sci (2006) 0.95
Disease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans. Biophys J (2006) 0.95
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. BMC Cell Biol (2010) 0.93
Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an indian population. Invest Ophthalmol Vis Sci (2010) 0.92
Ultrastructural analysis of damage to nuclear fiber cell membranes in advanced age-related cataracts from India. Exp Eye Res (2008) 0.92
Microsporidial keratitis in India: 16S rRNA gene-based PCR assay for diagnosis and species identification of microsporidia in clinical samples. Invest Ophthalmol Vis Sci (2006) 0.92
Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma. Mol Vis (2005) 0.91
The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration. Invest Ophthalmol Vis Sci (2009) 0.91
Visualization of in situ intracellular aggregation of two cataract-associated human gamma-crystallin mutants: lose a tail, lose transparency. Invest Ophthalmol Vis Sci (2008) 0.90
Optineurin and its mutants: molecules associated with some forms of glaucoma. Ophthalmic Res (2009) 0.89
Complex phenotypes in an Indian family with homozygous SCA2 mutations. Ann Neurol (2004) 0.88
Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change. BMC Mol Biol (2007) 0.88
The mutation V42M distorts the compact packing of the human gamma-S-crystallin molecule, resulting in congenital cataract. PLoS One (2012) 0.87
Cataract, visual impairment and long-term mortality in a rural cohort in India: the Andhra Pradesh Eye Disease Study. PLoS One (2013) 0.87
Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly. Invest Ophthalmol Vis Sci (2002) 0.87
Multilamellar spherical particles as potential sources of excessive light scattering in human age-related nuclear cataracts. Exp Eye Res (2010) 0.86
Structural integrity of the Greek key motif in βγ-crystallins is vital for central eye lens transparency. PLoS One (2013) 0.86
Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. Am J Med Genet A (2010) 0.86
Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. Mol Vis (2003) 0.85
Patients with Sturge-Weber syndrome. Ophthalmology (2004) 0.85
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet (2012) 0.85
Complement factor H polymorphism in age-related macular degeneration. Ophthalmology (2007) 0.85
Genomic diversities and affinities among four endogamous groups of Punjab (India) based on autosomal and mitochondrial DNA polymorphisms. Hum Biol (2002) 0.84
PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India. Ophthalmic Genet (2003) 0.84
Peroxynitrite reaction with eye lens proteins: alpha-crystallin retains its activity despite modification. Invest Ophthalmol Vis Sci (2004) 0.84
Clinical manifestations of congenital aniridia. J Pediatr Ophthalmol Strabismus (2014) 0.83
Glaucoma in southern India. Ophthalmology (2004) 0.82
Structural and aggregation behavior of the human γD-crystallin mutant E107A, associated with congenital nuclear cataract. Mol Vis (2010) 0.81
Variations in TIMP3 are associated with age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 0.80
Structural analysis of the mutant protein D26G of human γS-crystallin, associated with Coppock cataract. Mol Vis (2013) 0.80
Oral epithelial cells transplanted on to corneal surface tend to adapt to the ocular phenotype. Indian J Ophthalmol (2014) 0.79
How genetic studies have advanced our understanding of age-related macular degeneration and their impact on patient care: a review. Clin Experiment Ophthalmol (2013) 0.78
Association of single nucleotide polymorphisms of interleukins-1β, -6, and -12B with contact lens keratitis susceptibility and severity. Ophthalmology (2012) 0.78
Association of the del443ins54 at the ARMS2 locus in Indian and Australian cohorts with age-related macular degeneration. Mol Vis (2013) 0.77
TNF-α (g.-308 G > A) and ADIPOQ (g. + 45 T > G) gene polymorphisms in type 2 diabetes and microvascular complications in the region of Punjab (North-West India). Curr Eye Res (2014) 0.77
Glycosaminoglycans, hyperglycemia, and disease. Antioxid Redox Signal (2014) 0.77
Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. Hum Genet (2003) 0.76
Role of xanthurenic acid 8-O-beta-D-glucoside, a novel fluorophore that accumulates in the brunescent human eye lens. Photochem Photobiol (2002) 0.76
Functional analysis of optineurin and some of its disease-associated mutants. IUBMB Life (2015) 0.76
FOXC1-associated phenotypes in humans may not always exhibit corneal neovascularization. Proc Natl Acad Sci U S A (2012) 0.75
LV Prasad Eye Institute Glaucoma Epidemiology and Molecular Genetic Study (LVPEI- GLEAMS). Report 1: study design and research methodology. Ophthalmic Epidemiol (2013) 0.75
Of genes and disease. Indian J Ophthalmol (2002) 0.75
Energy transfer--a tool for probing micellar media. Spectrochim Acta A Mol Biomol Spectrosc (2003) 0.75
Immune defense single nucleotide polymorphisms and recruitment strategies associated with contact lens keratitis. Ophthalmology (2012) 0.75
Corneal chalcosis following blast injury. Br J Ophthalmol (2012) 0.75
Exome sequencing reveals the likely involvement of SOX10 in uveal melanoma. Optom Vis Sci (2014) 0.75
Gene symbol: MY0C (GLC1A). Disease: glaucoma 1, open angle. Hum Genet (2003) 0.75
Corrigendum: Ectopic expression of Arabidopsis Target of Rapamycin (AtTOR) improves water-use efficiency and yield potential in rice. Sci Rep (2017) 0.75
Stickler syndrome associated with congenital glaucoma. Lancet (2013) 0.75