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IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.
Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor JF, Bathen J, Aslaksen B, Sørland SJ, Lund O, Malcolm S, Pembrey M, Bhattacharya S, Bitner-Glindzicz M. Tyson J, et al. Among authors: pembrey m. Hum Mol Genet. 1997 Nov;6(12):2179-85. doi: 10.1093/hmg/6.12.2179. Hum Mol Genet. 1997. PMID: 9328483
Mapping of DFN2 to Xq22.
Tyson J, Bellman S, Newton V, Simpson P, Malcolm S, Pembrey ME, Bitner-Glindzicz M. Tyson J, et al. Among authors: pembrey me. Hum Mol Genet. 1996 Dec;5(12):2055-60. doi: 10.1093/hmg/5.12.2055. Hum Mol Genet. 1996. PMID: 8968763
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
Tyson J, Tranebjaerg L, McEntagart M, Larsen LA, Christiansen M, Whiteford ML, Bathen J, Aslaksen B, Sørland SJ, Lund O, Pembrey ME, Malcolm S, Bitner-Glindzicz M. Tyson J, et al. Among authors: pembrey me. Hum Genet. 2000 Nov;107(5):499-503. doi: 10.1007/s004390000402. Hum Genet. 2000. PMID: 11140949
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.
Bitner-Glindzicz M, Turnpenny P, Höglund P, Kääriäinen H, Sankila EM, van der Maarel SM, de Kok YJ, Ropers HH, Cremers FP, Pembrey M, et al. Bitner-Glindzicz M, et al. Among authors: pembrey m. Hum Mol Genet. 1995 Aug;4(8):1467-9. doi: 10.1093/hmg/4.8.1467. Hum Mol Genet. 1995. PMID: 7581392 Free article. No abstract available.
The major cystic fibrosis mutation in a British population.
McMahon CJ, Genet SA, Middleton-Price HR, Rutland P, Pembrey ME, Malcolm S. McMahon CJ, et al. Among authors: pembrey me. Hum Genet. 1990 Dec;86(2):236-7. doi: 10.1007/BF00197712. Hum Genet. 1990. PMID: 2265837
Genetic prediction in X-linked agammaglobulinaemia.
Lau YL, Levinsky RJ, Malcolm S, Goodship J, Winter R, Pembrey M. Lau YL, et al. Among authors: pembrey m. Am J Med Genet. 1988 Oct;31(2):437-48. doi: 10.1002/ajmg.1320310224. Am J Med Genet. 1988. PMID: 3232706
261 results