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Results: 1-17 |
Results: 17
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
Authors: van Bokhoven, H Hamel, BCJ Bamshad, M Sangiorgi, E Gurrieri, F Duijf, PHG Vanmolkot, KRJ van Beusekom, E van Beersum, SEC Celli, J Merkx, GFM Tenconi, R Fryns, JP Verloes, A Newbury-Ecob, RA Raas-Rotschild, A Majewski, F Beemer, FA Janecke, A Chitayat, D Crisponi, G Kayserili, H Yates, JRW Neri, G Brunner, HG
Citation: H. Van Bokhoven et al., p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation, AM J HU GEN, 69(3), 2001, pp. 481-492
Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells
Authors: Grayson, C Reid, SNM Ellis, JA Rutherford, A Sowden, JC Yates, JRW Farber, DB Trump, D
Citation: C. Grayson et al., Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells, HUM MOL GEN, 9(12), 2000, pp. 1873-1879
Two distal mutations in the gene encoding emerin have profoundly differenteffects on emerin protein expression
Authors: Ellis, JA Brown, CA Tilley, LD Kendrick-Jones, J Spence, JE Yates, JRW
Citation: Ja. Ellis et al., Two distal mutations in the gene encoding emerin have profoundly differenteffects on emerin protein expression, NEUROMUSC D, 10(1), 2000, pp. 24-30
Evaluation of questionnaire on cancer family history in general practice -General practitioners reassure those at low risk and refer those at high risk - Reply
Authors: Leggatt, V Mackay, J Yates, JRW
Citation: V. Leggatt et al., Evaluation of questionnaire on cancer family history in general practice -General practitioners reassure those at low risk and refer those at high risk - Reply, BR MED J, 320(7228), 2000, pp. 187-187
The psychological impact of a cancer family history questionnaire completed in general practice
Authors: Leggatt, V Mackay, J Marteau, TM Yates, JRW
Citation: V. Leggatt et al., The psychological impact of a cancer family history questionnaire completed in general practice, J MED GENET, 37(6), 2000, pp. 470-472
Genetic susceptibility to age related macular degeneration
Authors: Yates, JRW Moore, AT
Citation: Jrw. Yates et At. Moore, Genetic susceptibility to age related macular degeneration, J MED GENET, 37(2), 2000, pp. 83-87
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes
Authors: Richards, AJ Martin, S Yates, JRW Scott, JD Baguley, DM Pope, FM Snead, MP
Citation: Aj. Richards et al., COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes, BR J OPHTH, 84(4), 2000, pp. 364-371
Variation in the vitreous phenotype of stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix
Authors: Richards, AJ Baguley, DM Yates, JRW Lane, C Nicol, M Harper, PS Scott, JD Snead, MP
Citation: Aj. Richards et al., Variation in the vitreous phenotype of stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix, AM J HU GEN, 67(5), 2000, pp. 1083-1094
Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity
Authors: Martin, S Richards, AJ Yates, JRW Scott, JD Pope, M Snead, MP
Citation: S. Martin et al., Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity, EUR J HUM G, 7(7), 1999, pp. 807-814
A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations
Authors: Gans, PAMD Ginjaar, I Bakker, E Yates, JRW den Dunnen, JT
Citation: Pamd. Gans et al., A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations, NEUROMUSC D, 9(4), 1999, pp. 247-250
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype
Authors: Yates, JRW Bagshaw, J Aksmanovic, VMA Coomber, E McMahon, R Whittaker, JL Morrison, PJ Kendrick-Jones, J Ellis, JA
Citation: Jrw. Yates et al., Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype, NEUROMUSC D, 9(3), 1999, pp. 159-165
The Emery-Dreifuss Muscular Dystrophy Mutation Database
Authors: Yates, JRW Wehnert, M
Citation: Jrw. Yates et M. Wehnert, The Emery-Dreifuss Muscular Dystrophy Mutation Database, NEUROMUSC D, 9(3), 1999, pp. 199-199
Evaluation of questionnaire on cancer family history in identifying patients at increased genetic risk in general practice
Authors: Leggatt, V Mackay, J Yates, JRW
Citation: V. Leggatt et al., Evaluation of questionnaire on cancer family history in identifying patients at increased genetic risk in general practice, BR MED J, 319(7212), 1999, pp. 757-758
Identification and characterization of the human homologue (RAI2) of a mouse retinoic acid induced gene in Xp22
Authors: Walpole, SM Hiriyana, KT Nicolaou, A Bingham, EL Durham, J Vaudin, M Ross, MT Yates, JRW Sieving, PA Trump, D
Citation: Sm. Walpole et al., Identification and characterization of the human homologue (RAI2) of a mouse retinoic acid induced gene in Xp22, GENOMICS, 55(3), 1999, pp. 275-283
Exclusion of RAI2 as the causative gene for Nance-Horan syndrome
Authors: Walpole, SM Ronce, N Grayson, C Dessay, B Yates, JRW Trump, D Toutain, A
Citation: Sm. Walpole et al., Exclusion of RAI2 as the causative gene for Nance-Horan syndrome, HUM GENET, 104(5), 1999, pp. 410-411
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy
Authors: Ellis, JA Yates, JRW Kendrick-Jones, J Brown, CA
Citation: Ja. Ellis et al., Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy, HUM GENET, 104(3), 1999, pp. 262-268
Clinical and molecular genetics of Stickler syndrome
Authors: Snead, MP Yates, JRW
Citation: Mp. Snead et Jrw. Yates, Clinical and molecular genetics of Stickler syndrome, J MED GENET, 36(5), 1999, pp. 353-359
Risultati: 1-17 |