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3.4.2 Gene studies (18)
Showing records 1 to 18
Display all abstracts in classification 3.4.2 Gene studies
Search within classification 3.4.2 Gene studies23524 Pro370Leu mutant myocilin impairs mitochondrial functions in human trabecular meshwork cells
He Y; Leung KW; Zhuo Y-H; Ge J
Molecular Vision 2009; 15:- 815-825
23735 Glaucoma-associated myocilin: a better understanding but much more to learn
Resch ZT; Fautsch MP
Experimental Eye Research 2009; 88: 704-712
23523 Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma
Fan BJ; Wang DY; Cheng C-Y; Ko WC; Lam SC; Pang CP
Molecular Vision 2009; 15:- 646-653
23493 Glaucoma-associated WDR36 variants encode functional defects in a yeast model system
Footz TK; Johnson JL; Dubois S; Boivin N; Raymond V; Walter MA
Human Molecular Genetics 2009; 18: 1276-1287
23950 Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes
Park S; Jamshidi Y; Vaideanu D; Bitner-Glindzicz M; Fraser S; Sowden JC
Investigative Ophthalmology and Visual Science 2009; 50: 1522-1530
23530 Apolipoprotein E polymorphisms and primary glaucoma in Saudis
Al-Dabbagh NM; Al-Dohayan N; Arfin M; Tariq M
Molecular Vision 2009; 15:- 912-919
23956 Multiple genes on chromosome 7 regulate dopaminergic amacrine cell number in the mouse retina
Whitney IE; Raven MA; Ciobanu DC; Williams RW; Reese BE
Investigative Ophthalmology and Visual Science 2009; 50: 1996-2003
23660 Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma
Carbone MA; Ayroles JF; Yamamoto A; Morozova TV; West SA; Magwire MM; Mackay TF; Anholt RR
PLoS ONE 2009; 4: e4216
23420 Null Mutations in LTBP2 Cause Primary Congenital Glaucoma
Ali M; McKibbin M; Booth A; Parry DA; Jain P; Riazuddin SA; Hejtmancik JF; Khan SN; Firasat S; Shires M
American Journal of Human Genetics 2009; 84: 664-671
23567 The evolution of Fox genes and their role in development and disease
Hannenhalli S; Kaestner KH
Nature Reviews Genetics 2009; 10: 233-240
23775 A clinical and molecular genetic study of German patients with primary congenital glaucoma
Weisschuh N; Wolf C; Wissinger B; Gramer E
American Journal of Ophthalmology 2009; 147: 744-753
23531 CYP1B1 mutations in Spanish patients with primary congenital glaucoma: Phenotypic and functional variability
Campos-Mollo E; Lopez-Garrido M-P; Blanco-Marchite C; Garcia-Feijoo J; Peralta J; Belmonte-Martinez J; Ayusu C; Escribano J
Molecular Vision 2009; 15:- 417-431
23527 Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma
Yang M; Guo X; Liu X; Shen H; Jia X; Xiao X; Li S; Fang S; Zhang Q
Molecular Vision 2009; 15:- 432-437
23944 Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome
Footz T; Idrees F; Acharya M; Kozlowski K; Walter MA
Investigative Ophthalmology and Visual Science 2009; 50: 2599-2606
24004 Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype
Sherwin JC; Hewitt AW; Bennett SL; Baird PN; Craig JE; Mackey DA
Clinical and Experimental Ophthalmology 2009; 37: 201-207
23835 Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma
Krumbiegel M; Pasutto F; Mardin CY; Weisschuh N; Paoli D; Gramer E; Zenkel M; Weber BH; Kruse FE; Schlötzer-Schrehardt U
Investigative Ophthalmology and Visual Science 2009; 50: 2796-2801
23706 Molecular pathology of pseudoexfoliation syndrome/glaucoma--new insights from LOXL1 gene associations
Schlötzer-Schrehardt U
Experimental Eye Research 2009; 88: 776-785
23529 TNF-α-308 G>A and -238 G>A polymorphisms are not major risk factors in Caucasian patients with exfoliation glaucoma
Mossbock G; Renner W; El-Shabrawi Y; Faschinger C; Schmut O; Wedrich A; Zimmermann C; Weger M
Molecular Vision 2009; 15:- 518-522
