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Results: 1-11 |
Results: 11
A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthomaelasticum
Authors: Cai, L Lumsden, A Guenther, UP Neldner, SA Zach, S Knoblauch, H Ramesar, R Hohl, D Callen, DF Neldner, KH Lindpaintner, K Richards, RI Struk, B
Citation: L. Cai et al., A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthomaelasticum, J MOL MED-J, 79(9), 2001, pp. 536-546
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
Authors: Reichenberger, E Tiziani, V Watanabe, S Park, L Ueki, Y Santanna, C Baur, ST Shiang, R Grange, DK Beighton, P Gardner, J Hamersma, H Sellars, S Ramesar, R Lidral, AC Sommer, A do Amaral, CMR Gorlin, RJ Mulliken, JB Olsen, BR
Citation: E. Reichenberger et al., Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK, AM J HU GEN, 68(6), 2001, pp. 1321-1326
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
Authors: Struk, B Cai, L Zach, S Chung, WJJ Lumsden, A Stumm, M Huber, M Schaen, L Kim, CA Goldsmith, LA Viljoen, D Figuera, LE Fuchs, W Munier, F Ramesar, R Hohl, D Richards, R Neldner, KH Lindpaintner, K
Citation: B. Struk et al., Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum, J MOL MED-J, 78(5), 2000, pp. 282-286
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure
Authors: Cai, L Struk, B Adams, MD Ji, W Haaf, T Kang, HL Dho, SH Xu, XQ Ringpfeil, F Nancarrow, J Zach, S Schaen, L Stumm, M Niu, TH Chung, J Lunze, K Verrecchia, B Goldsmith, LA Viljoen, D Figuera, LE Fuchs, W Lebwohl, M Uitto, J Richards, R Hohl, D Ramesar, R Callen, DF Kim, UJ Doggett, NA Neldner, KH Lindpainter, K
Citation: L. Cai et al., A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure, J MOL MED-J, 78(1), 2000, pp. 36-46
Inherited colon cancers
Authors: Goldberg, PA Madden, MV Harocopos, C Grobbelaar, JJ Kotze, MJ Marx, MP de Jong, G Ramesar, R
Citation: Pa. Goldberg et al., Inherited colon cancers, S AFR MED J, 90(7), 2000, pp. 703-704
Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa
Authors: Roberts, L Ramesar, R Greenberg, J
Citation: L. Roberts et al., Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa, CLIN GENET, 58(1), 2000, pp. 77-78
Genetic heterogeneity of Usher syndrome: Analysis of 151 families with Usher type I
Authors: Astuto, LM Weston, MD Carney, CA Hoover, DM Cremers, CWRJ Wagenaar, M Moller, C Smith, RJH Pieke-Dahl, S Greenberg, J Ramesar, R Jacobson, SG Ayuso, C Heckenlively, JR Tamayo, M Gorin, MB Reardon, W Kimerling, WJ
Citation: Lm. Astuto et al., Genetic heterogeneity of Usher syndrome: Analysis of 151 families with Usher type I, AM J HU GEN, 67(6), 2000, pp. 1569-1574
Genomic structure and identification of novel mutations in Usherin, the gene responsible for Usher syndrome type IIa
Authors: Weston, MD Eudy, JD Fujita, S Yao, SF Usami, S Cremers, C Greenburg, J Ramesar, R Martini, A Moller, C Smith, RJ Sumegi, J Kimberling, WJ
Citation: Md. Weston et al., Genomic structure and identification of novel mutations in Usherin, the gene responsible for Usher syndrome type IIa, AM J HU GEN, 66(4), 2000, pp. 1199-1210
A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences
Authors: Horrigan, SK Bartoloni, L Speer, MC Fulton, N Kravarusic, J Ramesar, R Vance, JM Yamaoka, LH Westbrook, CA
Citation: Sk. Horrigan et al., A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences, GENOMICS, 57(1), 1999, pp. 24-35
A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations
Authors: Greenberg, J Franz, T Goliath, R Ramesar, R
Citation: J. Greenberg et al., A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations, S AFR MED J, 89(8), 1999, pp. 877-878
Autosomal dominant (Beukes) premature degenerative osteoarthropathy of thehip joint maps to an 11-cM region on chromosome 4q35
Authors: Roby, P Eyre, S Worthington, J Ramesar, R Cilliers, H Beighton, P Grant, M Wallis, G
Citation: P. Roby et al., Autosomal dominant (Beukes) premature degenerative osteoarthropathy of thehip joint maps to an 11-cM region on chromosome 4q35, AM J HU GEN, 64(3), 1999, pp. 904-908
Risultati: 1-11 |