Search Results - "Hejtmancik, James F."
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1
Rapamycin slows aging in mice
Published in Aging cell (01-08-2012)“…Summary Rapamycin increases lifespan in mice, but whether this represents merely inhibition of lethal neoplastic diseases, or an overall slowing in multiple…”
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2
EPHA2 polymorphisms and age-related cataract in India
Published in PloS one (08-03-2012)“…We investigated whether previously reported single nucleotide polymorphisms (SNPs) of EPHA2 in European studies are associated with cataract in India. We…”
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Evaluation of Genetic Polymorphisms in Clusterin and Tumor Necrosis Factor-Alpha Genes in South Indian Individuals with Pseudoexfoliation Syndrome
Published in Current eye research (02-12-2015)“…Purpose: The aim of this study was to explore the potential association of genetic variants across clusterin (CLU) and tumor necrosis factor-alpha (TNF-α)…”
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Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis
Published in Molecular vision (07-11-2013)“…X-linked juvenile retinoschisis (XLRS) is a vitreoretinal dystrophy characterized by schisis (splitting) of the inner layers of the neuroretina. Mutations…”
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Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus
Published in Molecular vision (18-04-2008)“…Infantile nystagmus (IN) is an inherited disorder characterized by bilateral ocular oscillatory movements. Recently, mutations in FRMD7 were found to be…”
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Identification and functional clustering of global gene expression differences between human age-related cataract and clear lenses
Published in Molecular vision (07-10-2003)“…Age-related cataract is a multi-factorial disease with a poorly understood etiology. Numerous studies provide evidence that the human eye lens has evolved…”
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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
Published in Human mutation (1997)“…X‐linked Familial Exudative Vitreoretinopathy (XLFEVR) is a hereditary eye disorder that affects both the retina and the vitreous body. It is characterized by…”
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Usher syndrome clinical types I and II: Could ocular symptoms and signs differentiate between the two types?
Published in Acta ophthalmologica Scandinavica (01-04-2002)“…Purpose: Usher syndrome types I and II are clinical syndromes with substantial genetic and clinical heterogeneity. We undertook the current study in order to…”
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Evidence for Genetic Heterogeneity in X-Linked Familial Exudative Vitreoretinopathy
Published in Genomics (San Diego, Calif.) (01-09-1997)Get full text
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Linkage mapping of a large Colombian family segregating for X linked retinoschisis: refinement of the chromosomal location
Published in Journal of medical genetics (01-06-1997)“…Juvenile X linked retinoschisis (RS) is a bilateral vitreoretinal dystrophy that develops early in life. Previous linkage studies have localised the RS gene to…”
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Linkage and Candidate Gene Analysis of X-Linked Familial Exudative Vitreoretinopathy
Published in Genomics (San Diego, Calif.) (20-05-1995)“…Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder characterized by avascularity of the peripheral retina, retinal exudates, tractional…”
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Localization of cells containing LHRH-like mRNA in rat forebrain using in situ hybridization
Published in Endocrinology (Philadelphia) (01-02-1986)“…Using in situ hybridization, we localized cells in the rat forebrain which contain mRNA that hybridizes with a radiolabeled, synthetic oligodeoxyribonucleotide…”
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