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3.4.2 Gene studies (31)
Showing records 1 to 25
Display all abstracts in classification 3.4.2 Gene studies
Search within classification 3.4.2 Gene studies28242 Mitochondrial damage in the trabecular meshwork occurs only in primary open-angle glaucoma and in pseudoexfoliative glaucoma
Izzotti A; Longobardi M; Cartiglia C; Sacca SC
PLoS ONE 2011; 6: 14567
27876 Genetic architecture of open angle glaucoma and related determinants
Ramdas WD; Amin N; van Koolwijk LME; Janssens ACJW; Demirkan A; de Jong PTVM; Aulchenko YS; Wolfs RCW; Hofman A; Rivadeneira F
Journal of Medical Genetics 2011; 48: 190-196
27709 An Investigation Into LOXL1 Variants in Black South African Individuals With Exfoliation Syndrome
Rautenbach RM; Bardien S; Harvey J; Ziskind A
Archives of Ophthalmology 2011; 129: 206-210
28123 Large novel deletions detected in Chinese families with aniridia: Correlation between genotype and phenotype
Zhang X; Zhang Q; Tong Y; Dai H; Zhao X; Bai F; Xu L; Li Y
Molecular Vision 2011; 17: 548-557
28159 Mendelian molecular genetics in glaucoma
Calugaru D
Oftalmologia 2010; 54: 8-20
27870 The expression of dynein light chain DYNLL1 (LC8-1) is persistently downregulated in glaucomatous rat retinal ganglion cells
van Oterendorp C; Lorber B; Jovanovic Z; Yeo G; Lagreze WA; Martin KR
Experimental Eye Research 2011; 92: 138-146
28125 Chromosome 7q31 POAG locus: Ocular expression of caveolins and lack of association with POAG in a US cohort
Kuehn MH; Wang K; Roos B; Stone EM; Kwon YH; Alward WLM; Mullins RF; Fingert JH
Molecular Vision 2011; 17: 430-435
28121 Polymorphisms in an intronic region of the myocilin gene associated with primary open-angle glaucoma-a possible role for alternate splicing
Eswari Pandaranayaka PJ; Prasanthi N; Kannabiran N; Rangachari K; Dhivya M; Krishnadas SR; Sundaresan P; Krishnaswamy S
Molecular Vision 2010; 16: 2891-2902
28120 C57BL/6J, DBA/2J, and DBA/2J.gpnmb(+) mice have different visual signal processing in the inner retina
Porciatti V; Chou T-H; Feuer WJ
Molecular Vision 2010; 16: 2939-2947
28119 Role of cholesterol 24S-hydroxylase gene polymorphism (rs754203) in primary open angle glaucoma
Mossbock G; Weger M; Faschinger C; Schmut O; Renner W; Wedrich A; Zimmermann C; El-Shabrawi Y
Molecular Vision 2011; 17: 616-620
27948 Screening of OPTN in French familial amyotrophic lateral sclerosis
Millecamps S; Boillee S; Chabrol E; Camu W; Cazeneuve C; Salachas F; Pradat P-F; Danel-Brunaud V; Vandenberghe N; Corcia P
Neurobiology of Aging 2011; 32: 557
27909 A role for complement in glaucoma?
Ren L; Danias J
Adv Exp Med Biol 2010; 703: 95-104
27683 LOXL1 Gene Sequence Variants and Vascular Disease in Exfoliation Syndrome and Exfoliative Glaucoma
Holló G; Gál A; Kóthy P; Molnár JM
Journal of Glaucoma 2011; 20: 143-147
28126 Association of genetic polymorphisms of eNOS with glaucoma
Liao Q; Wang D-H; Sun H-J
Molecular Vision 2011; 17: 153-158
28054 Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma
Fernandez-Martinez L; Letteboer S; Mardin CY; Weisschuh N; Gramer E; Weber BH; Rautenstrauss B; Ferreira PA; Kruse FE; Reis A
European Journal of Human Genetics 2011; 19:445-451
28237 Identification of novel disease genes in anterior eye disorders
Mohamed Yousoof S; St Heaps L; Darmanian A; Peters G; Jamieson R
Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies 2010; 13: 654-655
27715 Analysis of LOXL1 single nucleotide polymorphisms in Polish population with pseudoexfoliation syndrome
Malukiewicz G; Lesiewska-Junk H; Linkowska K; Mielnik M; Grzybowski T; Sulima N
Acta Ophthalmologica 2011; 89: 64-66
28037 Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro
Gallenberger M; Meinel DM; Kroeber M; Wegner M; Milkereit P; Bosl MR; Tamm ER
Human Molecular Genetics 2011; 20: 422-435
28170 Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C>G) in Brazilian patients with primary open angle glaucoma
Kasahara N; Caixeta-Umbelino C; Paolera MD; Rocha MN; Richeti F; Vasconcellos JPC; Cohen R; Costa VP; Longui CA; Melo MR
Ophthalmic Genetics 2011; 32: 18-23
28038 Collagen-related genes influence the glaucoma risk factor, central corneal thickness
Vithana EN; Aung T; Khor CC; Cornes BK; Tay W-T; Sim X; Lavanya R; Wu R; Zheng Y; Hibberd ML
Human Molecular Genetics 2011; 20: 649-658
28006 Novel GLIS3 mutations demonstrate an extended multisystem phenotype
Dimitri P; Warner JT; Minton JAL; Patch AM; Ellard S; Hattersley AT; Barr S; Hawkes D; Wales JK; Gregory JW
European Journal of Endocrinology 2011; 164: 437-443
28055 LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population
Azmanov DN; Dimitrova S; Florez L; Cherninkova S; Draganov D; Morar B; Saat R; Juan M; Arostegui JI; Ganguly S
European Journal of Human Genetics 2011; 19: 326-333
27781 Expanding the Spectrum of FOXC1 and PITX2 Mutations and Copy Number Changes in Patients with Anterior Segment Malformations
D'haene B; Meire F; Claerhout I; Kroes HY; Plomp A; Arens YH; de Ravel T; Casteels I; De Jaegere S; Hooghe S
Investigative Ophthalmology and Visual Science 2011; 52: 324-333
28167 Evidence for a role of angiopoietin-like 7 (ANGPTL7) in extracellular matrix formation of the human trabecular meshwork: Implications for glaucoma
Comes N; Buie LK; Borras T
Genes to Cells 2011; 16: 243-259
28243 Biophysical characterization of the olfactomedin domain of Myocilin, an extracellular matrix protein implicated in inherited forms of glaucoma
Orwig SD; Lieberman RL
PLoS ONE 2011; 6: 16347
