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Genetics of human cataract

Clinical genetics, 2013-08, Vol.84 (2), p.120-127

2013

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Rapamycin slows aging in mice

Aging cell, 2012-08, Vol.11 (4), p.675-682

2012

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EPHA2 polymorphisms and age-related cataract in India

PloS one, 2012-03, Vol.7 (3), p.e33001-e33001

2012

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Methionine Sulfoxide Reductase A Is Important for Lens Cell Viability and Resistance to Oxidative Stress

Proceedings of the National Academy of Sciences - PNAS, 2004-06, Vol.101 (26), p.9654-9659

2004

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An Updated Meta-Analysis: Risk Conferred by Glutathione S-Transferases (GSTM1 and GSTT1) Polymorphisms to Age-Related Cataract

Journal of Ophthalmology, 2015-01, Vol.2015, p.103950-10

2015

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Novel locus for X linked recessive high myopia maps to Xq23–q25 but outside MYP1

Journal of medical genetics, 2006-05, Vol.43 (5), p.e20-e20

2006

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The genetics of cataract: our vision becomes clearer

American journal of human genetics, 1998-03, Vol.62 (3), p.520-525

Hejtmancik, J F

1998

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Congenital cataracts and their molecular genetics

Seminars in cell & developmental biology, 2008-04, Vol.19 (2), p.134-149

Hejtmancik, J. Fielding

2008

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Identification and functional clustering of global gene expression differences between age-related cataract and clear human lenses and aged human lenses

Experimental eye research, 2004-12, Vol.79 (6), p.935-940

2004

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β-Crystallin association

Experimental eye research, 2004-09, Vol.79 (3), p.377-383

2004

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X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus

Circulation (New York, N.Y.), 1993-06, Vol.87 (6), p.1854-1865

1993

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Energetics of Domain−Domain Interactions and Entropy Driven Association of β-Crystallins

Biochemistry (Easton), 2004-01, Vol.43 (2), p.415-424

2004

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Evaluation of Genetic Polymorphisms in Clusterin and Tumor Necrosis Factor-Alpha Genes in South Indian Individuals with Pseudoexfoliation Syndrome

Current eye research, 2015-12, Vol.40 (12), p.1218-1224

2015

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exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels

Genomics (San Diego, Calif.), 2014-02, Vol.103 (2-3), p.169-176

2014

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Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy

American journal of human genetics, 2005-07, Vol.77 (1), p.54-63

2005

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Monomer−Dimer Equilibrium of Normal and Modified βA3-Crystallins: Experimental Determination and Molecular Modeling

Biochemistry (Easton), 2000-12, Vol.39 (51), p.15799-15806

2000

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Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

Human genetics, 2005-03, Vol.116 (4), p.292-299

2005

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Mutational spectrum in Usher syndrome type II

Clinical genetics, 2004-04, Vol.65 (4), p.288-293

2004

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Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis

Molecular vision, 2013-11, Vol.19, p.2209-2216

2013

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Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of Familial Exudative Vitreoretinopathy

Human mutation, 1997, Vol.9 (5), p.396-401

1997

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Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus

Molecular vision, 2008-04, Vol.14, p.733-738

2008

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USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele

Clinical genetics, 2003-02, Vol.63 (2), p.150-153

2003

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Evidence of genetic heterogeneity in Romano-Ward long QT syndrome : analysis of 23 families

Circulation (New York, N.Y.), 1994-12, Vol.90 (6), p.2635-2644

1994

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Localization of the Usher Syndrome Type ID Gene (Ush1D) to Chromosome 10

Human molecular genetics, 1996-10, Vol.5 (10), p.1689-1692

1996

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Clinical diagnosis of the Usher syndromes

American journal of medical genetics, 1994-03, Vol.50 (1), p.32-38

1994

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Genetics of human cataract

Rapamycin slows aging in mice

EPHA2 polymorphisms and age-related cataract in India

Methionine Sulfoxide Reductase A Is Important for Lens Cell Viability and Resistance to Oxidative Stress

An Updated Meta-Analysis: Risk Conferred by Glutathione S-Transferases (GSTM1 and GSTT1) Polymorphisms to Age-Related Cataract

Novel locus for X linked recessive high myopia maps to Xq23–q25 but outside MYP1

The genetics of cataract: our vision becomes clearer

Congenital cataracts and their molecular genetics

Identification and functional clustering of global gene expression differences between age-related cataract and clear human lenses and aged human lenses

β-Crystallin association

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus

Energetics of Domain−Domain Interactions and Entropy Driven Association of β-Crystallins

Evaluation of Genetic Polymorphisms in Clusterin and Tumor Necrosis Factor-Alpha Genes in South Indian Individuals with Pseudoexfoliation Syndrome

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels

Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy

Monomer−Dimer Equilibrium of Normal and Modified βA3-Crystallins: Experimental Determination and Molecular Modeling

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

Mutational spectrum in Usher syndrome type II

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of Familial Exudative Vitreoretinopathy

Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele

Evidence of genetic heterogeneity in Romano-Ward long QT syndrome : analysis of 23 families

Localization of the Usher Syndrome Type ID Gene (Ush1D) to Chromosome 10

Clinical diagnosis of the Usher syndromes

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