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Results: 1-20 |
Results: 20
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
Authors: Verpy, E Masmoudi, S Zwaenepoel, I Leibovici, M Hutchin, TP Del Castillo, I Nouaille, S Blanchard, S Laine, S Popot, JL Moreno, F Mueller, RF Petit, C
Citation: E. Verpy et al., Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus, NAT GENET, 29(3), 2001, pp. 345-349
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction
Authors: Hutchin, TP Navarro-Coy, NC Van Camp, G Tiranti, V Zeviani, M Schuelkes, M Jaksch, M Newton, V Mueller, RF
Citation: Tp. Hutchin et al., Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction, EUR J HUM G, 9(5), 2001, pp. 385-387
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 common founder for the 35deIG GJB2 gene mutation in connexin 26 hearing impairment
Authors: Van Laer, L Coucke, P Mueller, RF Caethoven, G Flothmann, K Prasad, SD Chamberlin, GP Houseman, M Taylor, GR Van de Heyning, CM Fransen, E Rowland, J Cucci, RA Smith, RJH Van Camp, G
Citation: L. Van Laer et al., A common founder for the 35deIG GJB2 gene mutation in connexin 26 hearing impairment, J MED GENET, 38(8), 2001, pp. 515-518
Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment
Authors: Hutchin, TP Thompson, KR Parker, M Newton, V Bitner-Glindzicz, M Mueller, RF
Citation: Tp. Hutchin et al., Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment, J MED GENET, 38(4), 2001, pp. 229-231
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
Authors: Houseman, MJ Ellis, LA Pagnamenta, A Di, WL Rickard, S Osborn, AH Dahl, HHM Taylor, GR Bitner-Glindzicz, M Reardon, W Mueller, RF Kelsell, DP
Citation: Mj. Houseman et al., Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss, J MED GENET, 38(1), 2001, pp. 20-25
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
Fluoroquinolones in the treatment of Actinobacillus actinomycetemcomitans associated periodontitis
Authors: Kleinfelder, JW Mueller, RF Lange, DE
Citation: Jw. Kleinfelder et al., Fluoroquinolones in the treatment of Actinobacillus actinomycetemcomitans associated periodontitis, J PERIODONT, 71(2), 2000, pp. 202-208
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
Population-based genetic study of childhood hearing impairment in the Trent region of the United Kingdom
Authors: Parker, MJ Fortnum, HM Young, ID Davis, AC Mueller, RF
Citation: Mj. Parker et al., Population-based genetic study of childhood hearing impairment in the Trent region of the United Kingdom, AUDIOLOGY, 39(4), 2000, pp. 226-231
Inherited deafness in childhood - the genetic revolution unmasks the clinical challenge
Authors: Reardon, W Mueller, RF
Citation: W. Reardon et Rf. Mueller, Inherited deafness in childhood - the genetic revolution unmasks the clinical challenge, ARCH DIS CH, 82(4), 2000, pp. 319-321
Proteus syndrome and immunodeficiency
Authors: Hedge, D Misbah, SA Mueller, RF Glass, EJ Chetcuti, PAJ
Citation: D. Hedge et al., Proteus syndrome and immunodeficiency, ARCH DIS CH, 82(3), 2000, pp. 234-235
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
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
Authors: McGuirt, WT Prasad, SD Griffith, AJ Kunst, HPM Green, GE Shpargel, KB Runge, C Huybrechts, C Mueller, RF Lynch, E King, MC Brunner, HG Cremers, CWRJ Takanosu, M Li, SW Arita, M Mayne, R Prockop, DJ Van Camp, G Smith, RJH
Citation: Wt. Mcguirt et al., Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13), NAT GENET, 23(4), 1999, pp. 413-419
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
The choice to have a disabled child - Reply
Authors: Middleton, A Mueller, RF Hewison, J
Citation: A. Middleton et al., The choice to have a disabled child - Reply, AM J HU GEN, 65(4), 1999, pp. 1207-1208
A mutation (2314delG) in the usher syndrome type IIA gene: High prevalenceand phenotypic variation
Authors: Liu, XZ Hope, C Liang, CY Zou, JM Xu, LR Cole, T Mueller, RF Bundey, S Nance, W Steel, KP Brown, SDM
Citation: Xz. Liu et al., A mutation (2314delG) in the usher syndrome type IIA gene: High prevalenceand phenotypic variation, AM J HU GEN, 64(4), 1999, pp. 1221-1225
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
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