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1.2 Population genetics (19)
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Display all abstracts in classification 1.2 Population genetics
Search within classification 1.2 Population genetics8573 Glaucoma characteristics in 13 families of two to four generations
Agla EK; Balo KP; Agamah AK; Banla M; Koffi Gué BK
Journal Français d'Ophtalmologie 2003; 26: 169-174
8576 Ocular hypertension in mice with a targeted type I collagen mutation
Aihara M; Lindsey JD; Weinreb RN
Investigative Ophthalmology and Visual Science 2003; 44: 1581-1585
8373 The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms
Aung T; Okada K; Poinoosawmy D; Membrey L; Brice G; Child AH; Bhattacharya SS; Lehmann OJ; Garway-Heath DF; Hitchings RA
British Journal of Ophthalmology 2003; 87: 149-152
8370 Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin
Baird PN; Craig JE; Richardson AJ; Ring MA; Sim P; Stanwix S; Foote SJ; Mackey DA
Human Genetics 2003; 112: 110-116
8594 A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco
Belmouden A; Melki R; Hamdani M; Zaghloul K; Amraoui A; Nadifi S; Akhayat O; Garchon HJ
Clinical Genetics 2002; 62: 334-339
8603 Penetrance and phenotype of the Cys433Arg myocilin mutation in a family pedigree with primary open-angle glaucoma
Cabral de Vasconcellos JP; Barbosa de Melo B; Schimiti R; Ferreira Costa R; Paulino Costa V
Journal of Glaucoma 2003; 12: 104-107
8623 Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia
Crolla JA; van Heyningen V
American Journal of Human Genetics 2002; 71: 1138-1149
8371 Founder TIGR/myocilin mutations for glaucoma in the Quebec population
Faucher M; Anctil JL; Rodrigue MA; Duchesne A; Bergeron D; Blondeau P; Cote G; Dubois S; Bergeron J; Arseneault R
Human Molecular Genetics 2002; 11: 2077-2090
8667 A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene
Honkanen RA; Nishimura DY; Swiderski RE; Bennett SR; Hong S; Kwon YH; Stone EM; Sheffield VC; Alward WLM
American Journal of Ophthalmology 2003; 135: 368-375
8685 Evaluation of the Oculomedin gene in the etiology of primary open angle and exfoliative glaucoma
Jansson M; Tomic L; Larsson LI; Wadelius C
Molecular Vision 2003; 9: 93-95
8689 Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation
Kamphuis W; Schneemann A
Ophthalmic Research 2003; 35: 93-96
8723 Does a family history of glaucoma affect disease severity at the time of diagnosis?
Landers J; Goldberg I; Graham S
Journal of Glaucoma 2003; 12: 31-35
8731 Expression of cell surface transmembrane carbonic anhydrase genes CA9 and CA12 in the human eye: overexpression of CA12 (CAXII) in glaucoma
Liao SY; Ivanov S; Ivanova A; Ghosh S; Cote MA; Keefe K; Coca-Prados M; Stanbridge EJ; Lerman MI
Journal of Medical Genetics 2003; 40: 257-261
8372 Modification of ocular defects in mouse developmental glaucoma models by tyrosinase
Libby RT; Smith RS; Savinova OV; Zabaleta A; Martin JE; Gonzalez FJ; John SW
Science 2003; 299: 1578-1581
8735 Septuagenarian's phenotype leads to ascertainment of familial MYOC gene mutation
Lim P; Lichter PR; Higashi M; Downs CA; Richards JE
Journal of Glaucoma 2003; 12: 98-103
8374 Tissue differential microarray analysis of dexamethasone induction reveals potential mechanisms of steroid glaucoma
Lo WR; Rowlette LL; Caballero M; Yang P; Hernandez MR; Borras T
Investigative Ophthalmology and Visual Science 2003; 44: 473-485
8768 The role of myocilin in the pathogenesis of primary open-angle glaucoma
Ohlmann A; Tamm ER
Ophthalmologe 2002; 99: 672-677
8769 Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma
Ohtake Y; Tanino T; Suzuki Y; Miyata H; Taomoto M; Azuma N; Tanihara H; Araie M; Mashima Y
British Journal of Ophthalmology 2003; 87: 302-304
8814 Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin
Soley GC; Bosse KA; Flikier D; Flikier P; Azofeifa J; Mardin CY; Reis A; Michels-Rautenstrauss KG; Rautenstrauss BW
Journal of Glaucoma 2003; 12: 27-30
