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Results: 1-16 |
Results: 16
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen (vol 107, pg 499, 2000)
Authors: Tyson, J Tranebjaerg, L McEntagart, M Larsen, LA Christiansen, M Whiteford, ML Bathen, J Aslaksen, B Sorland, SJ Lund, O Pembrey, ME Malcolm, S Bitner-Glindzicz, M
Citation: J. Tyson et al., Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen (vol 107, pg 499, 2000), HUM GENET, 108(1), 2001, pp. 75-75
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families
Authors: Rickard, S Kelsell, DP Sirimana, T Rajput, K MacArdle, B Bitner-Glindzicz, M
Citation: S. Rickard et al., Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families, J MED GENET, 38(8), 2001, pp. 530-533
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
Haplotype analysis of the USH1D locus and genotype-phenotype correlations
Authors: Liu, XZ Blanton, SH Bitner-Glindzicz, M Pandya, A Landa, B MacArdle, B Rajput, K Bellman, S Webb, BT Ping, X Smith, RJH Nance, WE
Citation: Xz. Liu et al., Haplotype analysis of the USH1D locus and genotype-phenotype correlations, CLIN GENET, 60(1), 2001, pp. 58-62
A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome
Authors: Huang, LQ Bitner-Glindzicz, M Tranebjaerg, L Tinker, A
Citation: Lq. Huang et al., A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome, CARDIO RES, 51(4), 2001, pp. 670-680
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 arecaused by allelic mutations of the novel cadherin-like gene CDH23
Authors: Bork, JM Peters, LM Riazuddin, S Bernstein, SL Ahmed, ZM Ness, SL Polomeno, R Ramesh, A Schloss, M Srisailpathy, CRS Wayne, S Bellman, S Desmukh, D Ahmed, Z Khan, SN Kaloustian, VMD Li, XC Lalwani, A Riazuddin, S Bitner-Glindzicz, M Nance, WE Liu, XZ Wistow, G Smith, RJH Griffith, AJ Wilcox, ER Friedman, TB Morell, RJ
Citation: Jm. Bork et al., Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 arecaused by allelic mutations of the novel cadherin-like gene CDH23, AM J HU GEN, 68(1), 2001, pp. 26-37
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
Authors: Bitner-Glindzicz, M Lindley, KJ Rutland, P Blaydon, D Smith, VV Milla, PJ Hussain, K Furth-Lavi, J Cosgrove, KE Shepherd, RM Barnes, PD O'Brien, RE Farndon, PA Sowden, J Liu, XZ Scanlan, MJ Malcolm, S Dunne, MJ Aynsley-Green, A Glaser, B
Citation: M. Bitner-glindzicz et al., A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene, NAT GENET, 26(1), 2000, pp. 56-60
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen
Authors: Tyson, J Tranebjaerg, L McEntagart, M Larsen, LA Christiansen, M Whiteford, ML Bathen, J Aslaksen, B Sorland, SJ Lund, O Pembrey, ME Malcolm, S Bitner-Glindzicz, M
Citation: J. Tyson et al., Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen, HUM GENET, 107(5), 2000, pp. 499-503
Aetiological investigations of hearing loss in hildhood: a review
Authors: Bamiou, DE Macardle, B Bitner-Glindzicz, M Sirimanna, T
Citation: De. Bamiou et al., Aetiological investigations of hearing loss in hildhood: a review, CLIN OTOLAR, 25(2), 2000, pp. 98-106
The Jervell and Lange-Nielsen syndrome
Authors: Bitner-Glindzicz, M Tranebjoerg, L
Citation: M. Bitner-glindzicz et L. Tranebjoerg, The Jervell and Lange-Nielsen syndrome, ADV OTO-RH, 56, 2000, pp. 45-52
DFN2
Authors: Bitner-Glindzicz, M Tyson, J
Citation: M. Bitner-glindzicz et J. Tyson, DFN2, ADV OTO-RH, 56, 2000, pp. 181-183
Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes
Authors: Rickard, S Boxer, M Trompeter, R Bitner-Glindzicz, M
Citation: S. Rickard et al., Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes, J MED GENET, 37(8), 2000, pp. 623-627
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome
Authors: de Vries, BBA Bitner-Glindzicz, M Knight, SJL Tyson, J MacDermot, KD Flint, J Malcolm, S Winter, RM
Citation: Bba. De Vries et al., A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome, CLIN GENET, 58(6), 2000, pp. 483-487
Jervell and Lange-Nielsen syndrome: A Norwegian perspective
Authors: Tranebjaerg, L Bathen, J Tyson, J Bitner-Glindzicz, M
Citation: L. Tranebjaerg et al., Jervell and Lange-Nielsen syndrome: A Norwegian perspective, AM J MED G, 89(3), 1999, pp. 137-146
Splice mutations in KVLQT1?
Authors: Tyson, J Malcolm, S Bitner-Glindzicz, M
Citation: J. Tyson et al., Splice mutations in KVLQT1?, CIRCULATION, 99(18), 1999, pp. 2476-2477
Risultati: 1-16 |