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Results: 1-14 |
Results: 14
Missense mutations in COL8A2, the gene encoding the alpha 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
Authors: Biswas, S Munier, FL Yardley, J Hart-Holden, N Perveen, R Cousin, P Sutphin, JE Noble, B Batterbury, M Kielty, C Hackett, A Bonshek, R Ridgway, A McLeod, D Sheffield, VC Stone, EM Schorderet, DF Black, GCM
Citation: S. Biswas et al., Missense mutations in COL8A2, the gene encoding the alpha 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy, HUM MOL GEN, 10(21), 2001, pp. 2415-2423
Chromosome 5q31 linked Corneal Dystrophies: Outline of a new classification
Authors: Munier, FL Schorderet, DF
Citation: Fl. Munier et Df. Schorderet, Chromosome 5q31 linked Corneal Dystrophies: Outline of a new classification, KLIN MONATS, 218(3), 2001, pp. 136-139
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
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
Allelic variation in the VMD2 gene in best disease and age-related maculardegeneration
Authors: Lotery, AJ Munier, FL Fishman, GA Weleber, RG Jacobson, SG Affatigato, LM Nichols, BE Schorderet, DF Sheffield, VC Stone, EM
Citation: Aj. Lotery et al., Allelic variation in the VMD2 gene in best disease and age-related maculardegeneration, INV OPHTH V, 41(6), 2000, pp. 1291-1296
Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: An epithelial origin?
Authors: Ridgway, AEA Akhtar, S Munier, FL Schorderet, DF Stewart, H Perveen, R Bonshek, RE Odenthal, MTP Dixon, M Barraquer, R Escoto, R Black, GCM
Citation: Aea. Ridgway et al., Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: An epithelial origin?, INV OPHTH V, 41(11), 2000, pp. 3286-3292
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
Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein
Authors: Korvatska, E Henry, H Mashima, Y Yamada, M Bachmann, C Munier, FL Schorderet, DF
Citation: E. Korvatska et al., Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein, J BIOL CHEM, 275(15), 2000, pp. 11465-11469
Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene
Authors: Schorderet, DF Menasche, M Morand, S Bonnel, S Buchillier, V Marchant, D Auderset, K Bonny, C Abitbol, M Munier, FL
Citation: Df. Schorderet et al., Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene, BIOC BIOP R, 274(2), 2000, pp. 267-274
Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome4q35
Authors: Jiao, XD Munier, FL Iwata, F Hayakawa, M Kanai, A Lee, J Schorderet, DF Chen, MS Kaiser-Kupfer, M Hejtmancik, JF
Citation: Xd. Jiao et al., Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome4q35, AM J HU GEN, 67(5), 2000, pp. 1309-1313
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
On the role of kerato-epithelin in the pathogenesis of 5q31-linked cornealdystrophies
Authors: Korvatska, E Munier, FL Chaubert, P Wang, MX Mashima, Y Yamada, M Uffer, S Zografos, L Schorderet, DF
Citation: E. Korvatska et al., On the role of kerato-epithelin in the pathogenesis of 5q31-linked cornealdystrophies, INV OPHTH V, 40(10), 1999, pp. 2213-2219
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
Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis
Authors: Munier, FL Thonney, F Girardet, A Balmer, A Claustre, M Pellestor, F Senn, A Pescia, G Schorderet, DF
Citation: Fl. Munier et al., Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis, AM J HU GEN, 63(6), 1998, pp. 1903-1908
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