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Results: 1-14 |
Results: 14
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominantretinitis pigmentosa (RP13)
Authors: McKie, AB McHale, JC Keen, TJ Tarttelin, EE Goliath, R van Lith-Verhoeven, JJC Greenberg, J Ramesar, RS Hoyng, CB Cremers, FPM Mackey, DA Bhattacharya, SS Bird, AC Markham, AF Inglehearn, CF
Citation: Ab. Mckie et al., Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominantretinitis pigmentosa (RP13), HUM MOL GEN, 10(15), 2001, pp. 1555-1562
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
Authors: Toomes, C Marchbank, NJ Mackey, DA Craig, JE Newbury-Ecob, RA Bennett, CP Vize, CJ Desai, SP Black, GCM Patel, N Teimory, M Markham, AF Inglehearn, CF Churchill, AJ
Citation: C. Toomes et al., Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy, HUM MOL GEN, 10(13), 2001, pp. 1369-1378
Different patterns of expansion/contraction during the evolution of an mtDNA simple repeat
Authors: Howell, N Herrnstadt, C Mackey, DA
Citation: N. Howell et al., Different patterns of expansion/contraction during the evolution of an mtDNA simple repeat, MOL BIOL EV, 18(8), 2001, pp. 1593-1596
Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier
Authors: Craig, JE Baird, PN Healey, DL McNaught, AI McCartney, PJ Rait, JL Dickinson, JL Roe, L Fingert, JH Stone, EM Mackey, DA
Citation: Je. Craig et al., Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier, OPHTHALMOL, 108(9), 2001, pp. 1607-1620
Inhaled corticosteroids and glaucoma - Author's reply
Authors: Mitchell, P Cumming, RG Mackey, DA
Citation: P. Mitchell et al., Inhaled corticosteroids and glaucoma - Author's reply, OPHTHALMOL, 108(5), 2001, pp. 837-837
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension
Authors: Fingert, JH Clark, AF Craig, JE Alward, WLM Snibson, GR McLaughlin, M Tuttle, L Mackey, DA Sheffield, VC Stone, EM
Citation: Jh. Fingert et al., Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension, INV OPHTH V, 42(1), 2001, pp. 145-152
The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma
Authors: Baird, PN Dickinson, J Craig, JE Mackey, DA
Citation: Pn. Baird et al., The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma, AM J OPHTH, 131(4), 2001, pp. 510-511
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
Authors: Nishimura, DY Searby, CC Alward, WL Walton, D Craig, JE Mackey, DA Kawase, K Kanis, AB Patil, SR Stone, EM Sheffield, VC
Citation: Dy. Nishimura et al., A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye, AM J HU GEN, 68(2), 2001, pp. 364-372
Vigabatrin-associated visual field defects in children
Authors: Russell-Eggitt, IM Mackey, DA Taylor, DSI Timms, C Walker, JW
Citation: Im. Russell-eggitt et al., Vigabatrin-associated visual field defects in children, EYE, 14, 2000, pp. 334-339
Accuracy and implications of a reported family history of glaucoma - Experience from the glaucoma inheritance study in Tasmania
Authors: McNaught, AI Allen, JG Healey, DL McCartney, PJ Coote, MA Wong, TL Craig, JE Green, CM Rait, JL Mackey, DA
Citation: Ai. Mcnaught et al., Accuracy and implications of a reported family history of glaucoma - Experience from the glaucoma inheritance study in Tasmania, ARCH OPHTH, 118(7), 2000, pp. 900-904
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
Authors: Stone, EM Lotery, AJ Munier, FL Heon, E Piguet, B Guymer, RH Vandenburgh, K Cousin, P Nishimura, D Swiderski, RE Silvestri, G Mackey, DA Hageman, GS Bird, AC Sheffield, VC Schorderet, DF
Citation: Em. Stone et al., A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy, NAT GENET, 22(2), 1999, pp. 199-202
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
Authors: Fingert, JH Heon, E Liebmann, JM Yamamoto, T Craig, JE Rait, J Kawase, K Hoh, ST Buys, YM Dickinson, J Hockey, RR Williams-Lyn, D Trope, G Kitazawa, Y Ritch, R Mackey, DA Alward, WLN Sheffield, VC Stone, EM
Citation: Jh. Fingert et al., Analysis of myocilin mutations in 1703 glaucoma patients from five different populations, HUM MOL GEN, 8(5), 1999, pp. 899-905
Inhaled corticosteroids, family history, and risk of glaucoma
Authors: Mitchell, P Cumming, RG Mackey, DA
Citation: P. Mitchell et al., Inhaled corticosteroids, family history, and risk of glaucoma, OPHTHALMOL, 106(12), 1999, pp. 2301-2306
Optic atrophy
Authors: Mackey, DA
Citation: Da. Mackey, Optic atrophy, OX MG MED G, (36), 1998, pp. 461-473
Risultati: 1-14 |