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Results: 1-20 |
Results: 20
Focal therapy in the management of retinoblastoma: When to start and when to stop (vol 4, pg 334, 2000)
Authors: Hame, P Heon, E Gallie, BL Budning, AS
Citation: P. Hame et al., Focal therapy in the management of retinoblastoma: When to start and when to stop (vol 4, pg 334, 2000), J AAPOS, 5(2), 2001, pp. 104-104
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
Authors: Nishimura, DY Searby, CC Carmi, R Elbedour, K Van Maldergem, L Fulton, AB Lam, BL Powell, BR Swiderski, RE Bugge, KE Haider, NB Kwitek-Black, AE Ying, LH Duhl, DM Gorman, SW Heon, E Iannaccone, A Bonneau, D Biesecker, LG Jacobson, SG Stone, EM Sheffield, VC
Citation: Dy. Nishimura et al., Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2), HUM MOL GEN, 10(8), 2001, pp. 865-874
Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome
Authors: Priston, M Kozlowski, K Gill, D Letwin, K Buys, Y Levin, AV Walter, MA Heon, E
Citation: M. Priston et al., Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome, HUM MOL GEN, 10(16), 2001, pp. 1631-1638
An analysis of allelic variation in the ABCA4 gene
Authors: Webster, AR Heon, E Lotery, AJ Vandenburgh, K Casavant, TL Oh, KT Beck, G Fishman, GA Lam, BL Levin, A Heckenlively, JR Jacobson, SG Weleber, RG Sheffield, VC Stone, EM
Citation: Ar. Webster et al., An analysis of allelic variation in the ABCA4 gene, INV OPHTH V, 42(6), 2001, pp. 1179-1189
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly
Authors: Vincent, A Billingsley, G Priston, M Williams-Lyn, D Sutherland, J Glaser, T Oliver, E Walter, MA Heathcote, G Levin, A Heon, E
Citation: A. Vincent et al., Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly, J MED GENET, 38(5), 2001, pp. 324-326
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration
Authors: Guymer, RH Heon, E Lotery, AJ Munier, FL Schorderet, DF Baird, PN McNeil, RJ Haines, H Sheffield, VC Stone, EM
Citation: Rh. Guymer et al., Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration, ARCH OPHTH, 119(5), 2001, pp. 745-751
Mutations in the CRB1 gene cause Leber congenital amaurosis
Authors: Lotery, AJ Jacobson, SG Fishman, GA Weleber, RG Fulton, AB Namperumalsamy, P Heon, E Levin, AV Grover, S Rosenow, JR Kopp, KK Sheffield, VC Stone, EM
Citation: Aj. Lotery et al., Mutations in the CRB1 gene cause Leber congenital amaurosis, ARCH OPHTH, 119(3), 2001, pp. 415-420
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22
Authors: Heon, E Paterson, AD Fraser, M Billingsley, G Priston, M Balmer, A Schorderet, DF Verner, A Hudson, TJ Munier, FL
Citation: E. Heon et al., A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22, AM J HU GEN, 68(3), 2001, pp. 772-777
Focal therapy in the management of retinoblastoma: When to start and when to stop
Authors: Hamel, P Budning, AS Heon, E Gallie, BL
Citation: P. Hamel et al., Focal therapy in the management of retinoblastoma: When to start and when to stop, J AAPOS, 4(6), 2000, pp. 334-337
Mutations in MKKS cause Bardet-Biedl syndrome
Authors: Slavotinek, AM Stone, EM Mykytyn, K Heckenlively, JR Green, JS Heon, E Musarella, MA Parfrey, PS Sheffield, VC Biesecker, LG
Citation: Am. Slavotinek et al., Mutations in MKKS cause Bardet-Biedl syndrome, NAT GENET, 26(1), 2000, pp. 15-16
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25
Authors: Mirzayans, F Gould, DB Heon, E Billingsley, GD Cheung, JC Mears, AJ Walter, MA
Citation: F. Mirzayans et al., Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25, EUR J HUM G, 8(1), 2000, pp. 71-74
Genetic heterogeneity of the Coppock-like cataract: A mutation in CRYBB2 on chromosome 22q11.2
Authors: Gill, D Klose, R Munier, FL McFadden, M Priston, M Billingsley, G Ducrey, N Schorderet, DF Heon, E
Citation: D. Gill et al., Genetic heterogeneity of the Coppock-like cataract: A mutation in CRYBB2 on chromosome 22q11.2, INV OPHTH V, 41(1), 2000, pp. 159-165
Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness
Authors: Martin, SN Sutherland, J Levin, AV Klose, R Priston, M Heon, E
Citation: Sn. Martin et al., Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness, J MED GENET, 37(6), 2000, pp. 422-427
Recent advances in the molecular basis of inherited photoreceptor degeneration
Authors: Clarke, G Heon, E McInnes, RR
Citation: G. Clarke et al., Recent advances in the molecular basis of inherited photoreceptor degeneration, CLIN GENET, 57(5), 2000, pp. 313-329
The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area
Authors: Williams-Lyn, D Flanagan, J Buys, Y Trope, GE Fingert, J Stone, EM Heon, E
Citation: D. Williams-lyn et al., The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area, CAN J OPHTH, 35(1), 2000, pp. 12-17
Mutation analysis of 3 genes in patients with leber congenital amaurosis
Authors: Lotery, AJ Namperumalsamy, P Jacobson, SG Weleber, RG Fishman, GA Musarella, MA Hoyt, CS Heon, E Levin, A Jan, J Lam, B Carr, RE Franklin, A Radha, S Andorf, JL Sheffield, VC Stone, EM
Citation: Aj. Lotery et al., Mutation analysis of 3 genes in patients with leber congenital amaurosis, ARCH OPHTH, 118(4), 2000, pp. 538-543
Ultrasound biomicroscopy of the eye in cystinosis
Authors: Mungan, N Nischal, KK Heon, E MacKeen, L Balfe, JW Levin, AV
Citation: N. Mungan et al., Ultrasound biomicroscopy of the eye in cystinosis, ARCH OPHTH, 118(10), 2000, pp. 1329-1333
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
The gamma-crystallins and human cataracts: A puzzle made clearer
Authors: Heon, E Priston, M Schorderet, DF Billingsley, GD Girard, PO Lubsen, N Munier, FL
Citation: E. Heon et al., The gamma-crystallins and human cataracts: A puzzle made clearer, AM J HU GEN, 65(5), 1999, pp. 1261-1267
Risultati: 1-20 |