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3.4.2 Gene studies (186)
Showing records 1 to 25
Display all abstracts in classification 3.4.2 Gene studies
Search within classification 3.4.2 Gene studies61703 CYP1B1 gene analysis and phenotypic correlation in Portuguese children with primary congenital glaucoma
Cardoso MS
European Journal of Ophthalmology 2015; 0: 0
61138 Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma
Pasutto F
Gene 2015; 568: 76-80
61030 The role of base excision repair in the development of primary open angle glaucoma in the Polish population
Cuchra M
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2015; 778: 26-40
61617 Bioinformatics analysis to identify the differentially expressed genes of glaucoma
Yan X
Molecular medicine reports 2015; 12: 4829-4836
61494 A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
Yang HJ
Korean Journal of Ophthalmology 2015; 29: 249-255
61558 Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome
Zhu X
Gene 2015; 571: 142-144
61710 No Evidence of Association of Heterozygous Galactosylceramidase Deletion With Normal-Tension Glaucoma in a Korean Population
Shin HY
Journal of Glaucoma 2016; 25: e504-e506
61780 Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
Ghoumid J
European Journal of Human Genetics 2016; 24: 44-50
61095 Tools and resources for analyzing gene expression changes in glaucomatous neurodegeneration
Nickells RW
Experimental Eye Research 2015; 141: 99-110
61592 Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma
Mackay DS
PLoS ONE 2015; 10: e0132529
61159 Induction of autophagy in rats upon overexpression of wild-type and mutant optineurin gene
Ying H
BMC Cell Biology 2015; 16: 14
61305 Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications
Allen KF
Cold Spring Harbor perspectives in medicine 2015; 5:
61524 Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation
Tuysuz B
JIMD reports 2015; 0:
61126 A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family
Huang X
Eye 2015; 29: 972-977
61436 Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss
Souzeau E
JAMA ophthalmology 2015; 133: 826-833
61076 Expression-associated polymorphisms of CAV1-CAV2 affect intraocular pressure and high-tension glaucoma risk
Kim S
Molecular Vision 2015; 21: 548-554
61721 Bioinformatics analysis of potential essential genes that response to the high intraocular pressure on astrocyte due to glaucoma
Yang Y
International Journal of Ophthalmology 2015; 8: 395-398
61351 Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma
Yang Y
Gene 2015; 571: 188-193
60977 Polymorphic Variants of Cytochrome P450: Relevance to Cancer and Other Diseases
Daly AK
Advances in Pharmacology 2015; 74: 85-111
61522 Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences
Medina-Trillo C
European Journal of Human Genetics 2016; 24: 672-680
61125 Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil
de Melo MB
PLoS ONE 2015; 10: e0127147
61819 Association of HLA-DPA1 and -DPB1 polymorphisms with Posner-Schlossman syndrome among southern Chinese Han population
Zhao J
Chinese Journal of Medical Genetics 2015; 32: 254-258
61310 Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
Deml B
European Journal of Human Genetics 2016; 24: 535-541
61139 TNF-α -308 A/G and -238 A/G polymorphisms and susceptibility to glaucoma: a meta-analysis
Lee YH
Genetics and Molecular Research 2015; 14: 4966-4977
61697 A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma
Kumari D
Journal of Glaucoma 2016; 25: e106-e109
