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1.2 Population genetics (7)
Showing records 1 to 7
Display all abstracts in classification 1.2 Population genetics
Search within classification 1.2 Population genetics9127 Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma
Azzedine H; Bolino A; Taieb T; Birouk N; Di Duca M; Bouhouche A; Benamou S; Mrabet A; Hammadouche T; Chkili T
American Journal of Human Genetics 2003; 72: 1141-1153
8908 The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study
Forsman E; Lemmela S; Varilo T; Kristo P; Forsius H; Sankila EM; Jarvela I
Molecular Vision 2003; 9: 217-222
8904 Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation
Mackey DA; Healey DL; Fingert JH; Coote MA; Wong TL; Wilkinson CH; McCartney PJ; Rait JL; De Graaf AP; Stone EM
Archives of Ophthalmology 2003; 121: 1172-1180
8907 A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma
Nemesure B; Jiao X; He Q; Leske MC; Wu SY; Hennis A; Mendell N; Redman J; Garchon HJ; Barbados Family Study Group
Human Genetics 2003; 112: 600-609
8865 Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis
Tomarev SI; Wistow G; Raymond V; Dubois S; Malyukova I
Investigative Ophthalmology and Visual Science 2003; 44: 2588-2596
8905 Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma
Wiggs JL; Auguste J; Allingham RR; Flor JD; Pericak-Vance MA; Rogers K; LaRocque KR; Graham FL; Broomer B; Del Bono E
Archives of Ophthalmology 2003; 121: 1181-1183
8906 Tonography demonstrates reduced facility of outflow of aqueous humor in myocilin mutation carriers
Wilkinson CH; Van der Straaten D; Craig JE; Coote MA; McCartney PJ; Stankovich J; Stone EM; Mackey DA
Journal of Glaucoma 2003; 12: 237-242
