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3.4.1 Linkage studies (16)
Showing records 1 to 16
Display all abstracts in classification 3.4.1 Linkage studies
Search within classification 3.4.1 Linkage studies11332 Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing
Aldred MA; Baumber L; Hill A; Schwalbe EC; Goh K; Karwatowski W; Trembath RC
Human Genetics 2004; 115: 428-431
11471 Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study
Baird PN; Richardson AJ; Craig JE; Mackey DA; Rochtchina E; Mitchell P
Clinical and Experimental Ophthalmology 2004; 32: 518-522
11577 Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23)
Dimitrov B; Devriendt K; Maas NM; Vermeesch JR; Zahariev D; Avdjieva D; Popova A; Fryns JP; Simeonov E
Genetic Counselling 2004; 15: 191-197
11388 Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray
Ekong R; Jeremiah S; Judah D; Lehmann O; Mirzayans F; Hung YC; Walter MA; Bhattacharya SS; Gant TW; Povey S
Human Mutation 2004; 24: 76-85
11317 Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma
Fan BJ; Leung YF; Pang CP; Fan DS; Wang DY; Tong WC; Tam PO; Chua JK; Lau TC; Lam DS
Journal of Glaucoma 2004; 13: 377-384
11432 PITX2 gain-of-function in Rieger syndrome eye model
Holmberg J; Liu C-Y; Hjalt TA
American Journal of Pathology 2004; 165: 1633-1641
11398 Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography
Ishikawa K; Funayama T; Ohtake Y; Tanino T; Kurosaka D; Suzuki K; Ideta H; Fujimaki T; Tanihara H; Asaoka R
Journal of Glaucoma 2004; 13: 466-471
11425 Study on single nucleotide polymorphism of OPTN gene in a family with primary open angle glaucoma
Li S; He X; Li H; Xu J; Cheng H
Chinese Ophthalmic Research 2004; 22: 521-524
11526 CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma
Melki R; Colomb E; Lefort N; Brezin AP; Garchon H-J
Journal of Medical Genetics 2004; 41: 647-651
11237 Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family
Mortemousque B; Amati-Bonneau P; Couture F; Graffan R; Dubois S; Colin J; Bonneau D; Morissette J; Lacombe D; Raymond V
Archives of Ophthalmology 2004; 122: 1527-1533
11397 Angiotensin-converting enzyme insertion-deletion polymorphism in primary open-angle glaucoma
Ozkur M; Erbagci I; Gungor K; Nacak M; Aynacioglu S; Bekir NA
Ophthalmologica 2004; 218: 415-418
11455 Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients
Umeda T; Matsuo T; Nagayama M; Tamura N; Tanabe Y; Ohtsuki H
Ophthalmic Genetics 2004; 25: 91-99
11431 Commingling analysis of intraocular pressure and glaucoma in an older Australian population
Viswanathan AC; Hitchings RA; Indar A; Mitchel P; Healey PR; McGuffin P; Sham PC
Annals of Human Genetics 2004; 68: 489-497
11238 Defining the pathogenicity of optineurin in juvenile open-angle glaucoma
Willoughby CE; Chan LL; Herd S; Billingsley G; Noordeh N; Levin AV; Buys Y; Trope G; Sarfarazi M; Heon E
Investigative Ophthalmology and Visual Science 2004; 45: 3122-3130
11233 Investigation of the association between OPA1 polymorphisms and normal-tension glaucoma in Korea
Woo SJ; Kim DM; Kim JY; Park SS; Ko HS; Yoo T
Journal of Glaucoma 2004; 13: 492-495
11236 Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
Yardley J; Leroy BP; Hart-Holden N; Lafaut BA; Loeys B; Messiaen LM; Perveen R; Reddy MA; Bhattacharya SS; Traboulsi E
Investigative Ophthalmology and Visual Science 2004; 45: 3683-3689
