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3.4.2 Gene studies (243)

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80923 Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma
Khafagy MM
International Journal of Ophthalmology 2019; 12: 607-614
80402 The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders
Patel A
Ophthalmology 2019; 126: 888-907
81244 A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing
Zhang L
BMC Medical Genetics 2019; 20: 105
80621 SNP located in an repeat downstream of rs4657473, is protective for POAG in African Americans
Verkuil L
British Journal of Ophthalmology 2019; 103: 1530-1536
80908 A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family
Yi H
Journal of Human Genetics 2019; 64: 681-687
80886 Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis
Gong B
Genetics in Medicine 2019; 21: 2345-2354
81368 Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion
Souzeau E
Molecular genetics & genomic medicine 2019; 7: e774
81280 Coding Region Mutation Screening in Optineurin in Chinese Normal-Tension Glaucoma Patients
He JN
Disease markers 2019; 2019: 5820537
81421 Correlations of TIMP2 and TIMP3 gene polymorphisms with primary open-angle glaucoma
Ji ML
European review for medical and pharmacological sciences 2019; 23: 5542-5547
80866 The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome
Berner D
Human Molecular Genetics 2019; 0:
80839 Polygenic Risk Score Is Associated With Intraocular Pressure and Improves Glaucoma Prediction in the UK Biobank Cohort
Gao XR
Translational vision science & technology 2019; 8: 10
80736 Caveolin-1 regulates human trabecular meshwork cell adhesion, endocytosis, and autophagy
Wu Z
Journal of Cellular Biochemistry 2019; 120: 13382-13391
80763 Association of the Myocilin Gene Polymorphism With Primary Open Angle Glaucoma
Derakhshan A
Medical hypothesis, discovery and innovation in ophthalmology 2019; 8: 28-33
81337 Mendelian genes in primary open angle glaucoma
Sears NC
Experimental Eye Research 2019; 186: 107702
80639 The association of toll-like receptor 4 gene polymorphisms with primary open angle glaucoma susceptibility: a meta-analysis
Chaiwiang N
Bioscience reports 2019; 39:
81260 Multiple Gene Polymorphisms Associated with Exfoliation Syndrome in the Uygur Population
Ma YN
Journal of Ophthalmology 2019; 2019: 9687823
80615 Association between rs4938723 polymorphism and the risk of primary open-angle glaucoma (POAG) in a Chinese population
Zhang J
Journal of Cellular Biochemistry 2019; 120: 12875-12886
81412 Association of Polymorphisms at the SIX1-SIX6 Locus With Primary Open-Angle Glaucoma
Lu SY
Investigative Ophthalmology and Visual Science 2019; 60: 2914-2924
81434 Association of MTHFR C677T and A1298C Polymorphisms with Glaucoma Risk: a Systematic Review Meta-Analysis based 42 Case-Control Studies
Gohari M
Romanian journal of ophthalmology 2019; 63: 107-118
81148 Association of TNF-α gene alterations (c.-238G>A, c.-308G>A, c.-857C>T, c.-863C>A) with primary glaucoma in north Indian cohort
Passan S
Gene 2019; 709: 25-35
81280 Coding Region Mutation Screening in Optineurin in Chinese Normal-Tension Glaucoma Patients
He JN
Disease markers 2019; 2019: 5820537
80536 Myocilin Mutations in Patients With Normal-Tension Glaucoma
Alward WLM
JAMA ophthalmology 2019; 137: 559-563
81399 Association of polymorphism rs11656696 in with primary open-Angle Glaucoma in a Chinese Population
Xu J
Ophthalmic Genetics 2019; 40: 237-241
80994 Investigating a downstream gene of using the systems genetics method
Lu Y
Molecular Vision 2019; 25: 222-236
80594 Correlation between MTHFR polymorphisms and glaucoma: A meta-analysis
Zhang L
Molecular genetics & genomic medicine 2019; 7: e00538

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