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3.4.2 Gene studies (28)
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Display all abstracts in classification 3.4.2 Gene studies
Search within classification 3.4.2 Gene studies47748 Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA
Wiggs JL; Kang JH; Yaspan BL; Mirel DB; Laurie C; Crenshaw A; Brodeur W; Gogarten S; Olson LM; Abdrabou W
Human Molecular Genetics 2011; 20: 4707-4713
48051 Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients
Zhang X; Tong Y; Xu W; Dong B; Yang H; Xu L; Li Y
Eye 2011; 25: 1581-1589
47970 Association between SRBD1 and ELOVL5 gene polymorphisms and primary open-angle glaucoma
Mabuchi F; Sakurada Y; Kashiwagi K; Yamagata Z; Iijima H; Tsukahara S
Investigative ophthalmology & visual science 2011; 52: 4626-4629
48108 WDR36 and P53 Gene Variants and Susceptibility to Primary Open-Angle Glaucoma: Analysis of Gene-Gene Interactions
Blanco-Marchite C; Sánchez-Sánchez F; López-Garrido MP; Iñigez-de-Onzoño M; López-Martínez F; López-Sánchez E; Alvarez L; Rodríguez-Calvo PP; Méndez-Hernández C; Fernández-Vega L
Investigative Ophthalmology and Visual Science 2011; 52: 8467-8478
48040 Foxf2: A novel locus for anterior segment dysgenesis adjacent to the FOXC1 gene
McKeone R; Vieira H; Gregory-Evans K; Gregory-Evans CY; Denny P
PLoS ONE 2011; 6:10 Article Number: e25489
48139 Retinal gene expression changes related to IOP exposure and axonal loss in DBA/2J mice
Panagis L; Zhao X; Ge Y; Ren L; Mittag TW; Danias J
Investigative Ophthalmology and Visual Science 2011; 52: 7807-7816
48129 Gene Expression Changes in Steroid-Induced IOP Elevation in Bovine Trabecular Meshwork
Danias J; Gerometta R; Ge Y; Ren L; Panagis L; Mittag TW; Candia OA; Podos SM
Investigative Ophthalmology and Visual Science 2011; 52: 8636-8645
47974 Copy number variations and primary open-angle glaucoma
Davis LK; Meyer KJ; Schindler EI; Beck JS; Rudd DS; Grundstad AJ; Scheetz TE; Braun TA; Fingert JH; Alward WL
Investigative ophthalmology & visual science 2011; 52: 7122-7133
47828 The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population
Awadalla MS; Thapa SS; Burdon KP; Hewitt AW; Craig JE
Molecular Vision 2011; 17: 2248-2254
47901 Keeping an eye on myocilin: A complex molecule associated with primary open-angle glaucoma susceptibility
Menaa F; Braghini CA; De Vasconcellos JPC; Menaa B; Costa VP; De Figueiredo ES; de Melo MB
Molecules 2011; 16: 5402-5421
48119 Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2
Porter LF; Urquhart JE; O'Donoghue E; Spencer AF; Wade EM; Manson FD; Black GC
Investigative Ophthalmology and Visual Science 2011; 52: 7859-7865
48035 GALC deletions increase the risk of primary Open-Angle Glaucoma: The role of mendelian variants in complex disease
Liu Y; Gibson J; Wheeler J; Kwee LC; Santiago-Turla CM; Akafo SK; Lichter PR; Gaasterland DE; Moroi SE; Challa P
PLoS ONE 2011; 6:11 Article Number: e27134
47897 Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy
Wittstrom E; Ponjavic V; Bondeson M-L; Andreasson S
Ophthalmic Genetics 2011; 32: 217-227
47682 Study on MYOC/TIGR gene mutations in primary open-angle glaucoma
Chen JH; Xu L; Li Y; Dong B
Chinese Journal of Ophthalmology 2011; 47: 122-128
47640 A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS
Tumer Z; Bertelsen B; Gredal O; Magyari M; Nielsen KC; LuCamp Gronskov K; Brondum-Nielsen K
Neurobiology of Aging 2012; 33: 208-208
48031 Gene patents related to common diseases of the eye
Sahebjada S; Cantsileris S; Baird PN
Recent Patents on DNA and Gene Sequences 2011; 5: 185-193
47549 Current status of genome research on open-angle glaucoma in Finland
Forsman E; Lemmela S; Puska P; Jarvela I
Duodecim; laaketieteellinen aikakauskirja 2011; 127: 1426-1431
47948 Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome
Lin D-S; Chang J-H; Liu H-L; Wei C-H; Yeung C-Y; Ho C-S; Shu C-H; Chiang M-F; Chuang C-K; Huang Y-W
American Journal of Medical Genetics, Part A 2011; 155: 3095-3099
47827 Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma
Kim H-J; Suh W; Park SC; Kim CY; Park KH; Kook MS; Kim YY; Kim C-s; Park CK; Ki C-S
Molecular Vision 2011; 17: 2093-2101
47627 CYP1B1-related anterior segment developmental anomalies: Novel mutations for infantile glaucoma and von Hippel's ulcer revisited
Kelberman D; Islam L; Jacques TS; Russell-Eggitt I; Bitner-Glindzicz M; Khaw PT; Nischal KK; Sowden JC
Ophthalmology 2011; 118: 1865-1873
47830 Confirmation and further mapping of the GLC3C locus in primary congenital glaucoma
Chen X; Chen Y; Wang L; Jiang D; Wang W; Xia M; Yu L; Sun X
Front Biosci 2011; 17: 2052-2059
48407 Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma
Li N; Zhou Y; Du L; Wei M; Chen X
Experimental Eye Research 2011; 93: 572-579
47503 Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma
Khan K; Rudkin A; Parry DA; Burdon KP; McKibbin M; Logan CV; Abdelhamed ZIA; Muecke JS; Fernandez-Fuentes N; Laurie KJ
American Journal of Human Genetics 2011; 89: 464-473
47826 Toll-like Receptor 4 gene polymorphisms do not associate with normal tension glaucoma in a Korean population
Suh W; Kim S; Ki C-S; Kee C
Molecular Vision 2011; 17: 2343-2348
48104 Regulation of Lysyl Oxidase-like 1 (LOXL1) and Elastin-Related Genes by Pathogenic Factors Associated with Pseudoexfoliation Syndrome
Zenkel M; Krysta A; Pasutto F; Juenemann A; Kruse FE; Schlötzer-Schrehardt U
Investigative Ophthalmology and Visual Science 2011; 52: 8488-8495
