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Results: 1-17 |
Results: 17
Micro syndrome in muslim Pakistan children
Authors: Ainsworth, JR Morton, JE Good, P Woods, CG George, NDL Shield, JP Bradbury, J Henderson, MJ Chhina, J
Citation: Jr. Ainsworth et al., Micro syndrome in muslim Pakistan children, OPHTHALMOL, 108(3), 2001, pp. 491-497
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36
Authors: Hampshire, DJ Roberts, E Crow, Y Bond, J Mubaidin, A Wriekat, AL Al-Din, A Woods, CG
Citation: Dj. Hampshire et al., Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36, J MED GENET, 38(10), 2001, pp. 680-682
A new pedigree with recessive CHED mapping to the CHED2 locus on 20p13
Authors: Mohamed, MD McKibbin, M Jafri, H Raashed, Y Woods, CG Inglehearn, CF
Citation: Md. Mohamed et al., A new pedigree with recessive CHED mapping to the CHED2 locus on 20p13, BR J OPHTH, 85(6), 2001, pp. 758-759
A gene for ataxic cerebral palsy maps to chromosome 9p12-q12
Authors: McHale, DP Jackson, AP Campbell, DA Levene, MI Corry, P Woods, CG Lench, NJ Mueller, RF Markham, AF
Citation: Dp. Mchale et al., A gene for ataxic cerebral palsy maps to chromosome 9p12-q12, EUR J HUM G, 8(4), 2000, pp. 267-272
Pseudotrisomy 13 syndrome in siblings
Authors: Amor, DJ Woods, CG
Citation: Dj. Amor et Cg. Woods, Pseudotrisomy 13 syndrome in siblings, CLIN DYSMOR, 9(2), 2000, pp. 115-118
High myopia, and mild mental retardation in three brothers
Authors: Gardiner, CA Woods, CG
Citation: Ca. Gardiner et Cg. Woods, High myopia, and mild mental retardation in three brothers, CLIN DYSMOR, 9(1), 2000, pp. 43-46
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome
Authors: Hampson, K Woods, CG Latif, F Webb, T
Citation: K. Hampson et al., Mutations in the MECP2 gene in a cohort of girls with Rett syndrome, J MED GENET, 37(8), 2000, pp. 610-612
The continuing failure to recognise Alstrom syndrome and further evidence of genetic homogeneity
Authors: Deeble, VJ Roberts, E Jackson, A Lench, N Karban, G Woods, CG
Citation: Vj. Deeble et al., The continuing failure to recognise Alstrom syndrome and further evidence of genetic homogeneity, J MED GENET, 37(3), 2000, pp. 219-219
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31
Authors: Pattison, L Crow, YJ Deeble, VJ Jackson, AP Jafri, H Rashid, Y Roberts, E Woods, CG
Citation: L. Pattison et al., A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31, AM J HU GEN, 67(6), 2000, pp. 1578-1580
Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21
Authors: Crow, YJ Jackson, AP Roberts, E van Beusekom, E Barth, P Corry, P Ferrie, CD Hamel, BCJ Jayatunga, R Karbani, G Kalmanchey, R Kelemen, A King, M Kumar, R Livingstone, J Massey, R McWilliam, R Meager, A Rittey, C Stephenson, JBP Tolmie, JL Verrips, A Voit, T van Bokhoven, H Brunner, HG Woods, CG
Citation: Yj. Crow et al., Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21, AM J HU GEN, 67(1), 2000, pp. 213-221
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34
Authors: Moynihan, L Jackson, AP Roberts, E Karbani, G Lewis, I Corry, P Turner, G Mueller, RF Lench, NJ Woods, CG
Citation: L. Moynihan et al., A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34, AM J HU GEN, 66(2), 2000, pp. 724-727
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis
Authors: Toomes, C James, J Wood, AJ Wu, CL McCormick, D Lench, N Hewitt, C Moynihan, L Roberts, E Woods, CG Markham, A Wong, M Widmer, R Ghaffar, KA Pemberton, M Hussein, IR Temtamy, SA Davies, R Read, AP Sloan, P Dixon, MJ Thakker, NS
Citation: C. Toomes et al., Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis, NAT GENET, 23(4), 1999, pp. 421-424
The second locus for autosomal recessive primary microcephaly (MCPH2) mapsto chromosome 19q13.1-13.2
Authors: Roberts, E Jackson, AP Carradice, AC Deeble, VJ Mannan, J Rashid, Y Jafri, H McHale, DP Markham, AF Lench, NJ Woods, CG
Citation: E. Roberts et al., The second locus for autosomal recessive primary microcephaly (MCPH2) mapsto chromosome 19q13.1-13.2, EUR J HUM G, 7(7), 1999, pp. 815-820
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations
Authors: Nelen, MR Kremer, H Konings, IBM Schoute, F van Essen, AJ Koch, R Woods, CG Fryns, JP Hamel, B Hoefsloot, LH Peeters, EAJ Padberg, GW
Citation: Mr. Nelen et al., Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations, EUR J HUM G, 7(3), 1999, pp. 267-273
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
Authors: Celli, J Duijf, P Hamel, BCJ Bamshad, M Kramer, B Smits, APT Newbury-Ecob, R Hennekam, RCM Van Buggenhout, G van Haeringen, B Woods, CG van Essen, AJ de Waal, R Vriend, G Haber, DA Yang, A McKeon, F Brunner, HG van Bokhoven, H
Citation: J. Celli et al., Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome, CELL, 99(2), 1999, pp. 143-153
Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia
Authors: Inskip, HM Kinlen, LJ Taylor, AMR Woods, CG Arlett, CF
Citation: Hm. Inskip et al., Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia, BR J CANC, 79(7-8), 1999, pp. 1304-1307
A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25
Authors: McHale, DP Mitchell, S Bundey, S Moynihan, L Campbell, DA Woods, CG Lench, NJ Mueller, RF Markham, AF
Citation: Dp. Mchale et al., A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25, AM J HU GEN, 64(2), 1999, pp. 526-532
Risultati: 1-17 |