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Results: 1-13 |
Results: 13
Maternally inherited hearing impairment in a family with the mitochondrialDNA A7445G mutation
Authors: Hutchin, TP Lench, NJ Arbuzova, S Markham, AF Mueller, RF
Citation: Tp. Hutchin et al., Maternally inherited hearing impairment in a family with the mitochondrialDNA A7445G mutation, EUR J HUM G, 9(1), 2001, pp. 56-58
A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?
Authors: Henwood, J Pickard, C Leek, JP Bennett, CP Crow, YJ Thomson, JDR Ahmed, M Watterson, KG Parsons, JM Roberts, E Lench, NJ
Citation: J. Henwood et al., A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?, J MED GENET, 38(8), 2001, pp. 533-536
Extent and distribution of linkage disequilibrium in three genomic regions
Authors: Abecasis, GR Noguchi, E Heinzmann, A Traherne, JA Bhattacharyya, S Leaves, NI Anderson, GG Zhang, YM Lench, NJ Carey, A Cardon, LR Moffatt, MF Cookson, WOC
Citation: Gr. Abecasis et al., Extent and distribution of linkage disequilibrium in three genomic regions, AM J HU GEN, 68(1), 2001, pp. 191-197
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
A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31
Authors: Pulleyn, LJ Jackson, AP Roberts, E Carridice, A Muxworthy, C Houseman, M Al-Gazali, LI Lench, NJ Markham, AF Mueller, RF
Citation: Lj. Pulleyn et al., A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31, EUR J HUM G, 8(12), 2000, pp. 991-993
Mapping of the DFNB1 locus
Authors: Mueller, RF Lench, NJ
Citation: Rf. Mueller et Nj. Lench, Mapping of the DFNB1 locus, ADV OTO-RH, 56, 2000, pp. 116-123
A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family withnon-syndromic sensorineural hearing impairment
Authors: Hutchin, TP Parker, MJ Young, ID Davis, AC Pulleyn, LJ Deeble, J Lench, NJ Markham, AF Mueller, RF
Citation: Tp. Hutchin et al., A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family withnon-syndromic sensorineural hearing impairment, J MED GENET, 37(9), 2000, pp. 692-694
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
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
Isolation and characterisation of a cDNA encoding the precursor for a novel member of the Acyl-CoA dehydrogenase gene family
Authors: Telford, EAR Moynihan, LM Markham, AF Lench, NJ
Citation: Ear. Telford et al., Isolation and characterisation of a cDNA encoding the precursor for a novel member of the Acyl-CoA dehydrogenase gene family, BBA-GENE ST, 1446(3), 1999, pp. 371-376
Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations - molecular and audiological findings
Authors: Mueller, RF Nehammer, A Middleton, A Houseman, M Taylor, GR Bitner-Glindzciz, M Van Camp, G Parker, M Young, ID Davis, A Newton, VE Lench, NJ
Citation: Rf. Mueller et al., Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations - molecular and audiological findings, INT J PED O, 50(1), 1999, pp. 3-13
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
Assignment of GALGT encoding beta-1,4N-acetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosomeband 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization
Authors: Hamlin, PJ Jones, PF Leek, JP Bransfield, K Lench, NJ Aldersley, MA Howdle, PD Markham, AF Robinson, PA
Citation: Pj. Hamlin et al., Assignment of GALGT encoding beta-1,4N-acetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosomeband 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization, CYTOG C GEN, 82(3-4), 1998, pp. 267-268
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