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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: bellman s. 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: bellman s. Hum Mol Genet. 1996 Dec;5(12):2055-60. doi: 10.1093/hmg/5.12.2055. Hum Mol Genet. 1996. PMID: 8968763
Clinical and genetic heterogeneity in X-linked deafness.
Reardon W, Middleton-Price HR, Malcolm S, Phelps P, Bellman S, Luxon L, Martin JA, Bumby A, Pembrey ME. Reardon W, et al. Among authors: bellman s. Br J Audiol. 1992 Apr;26(2):109-14. doi: 10.3109/03005369209077878. Br J Audiol. 1992. PMID: 1628115
Haplotype analysis of the USH1D locus and genotype-phenotype correlations.
Liu XZ, Blanton SH, Bitner-Glindzicz M, Pandya A, Landa B, MacArdle B, Rajput K, Bellman S, Webb BT, Ping X, Smith RJ, Nance WE. Liu XZ, et al. Among authors: bellman s. Clin Genet. 2001 Jul;60(1):58-62. doi: 10.1034/j.1399-0004.2001.600109.x. Clin Genet. 2001. PMID: 11531971
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Bork JM, et al. Among authors: bellman s. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub 2000 Nov 21. Am J Hum Genet. 2001. PMID: 11090341 Free PMC article.
Phenotypic manifestations of branchio-oto-renal syndrome.
Chen A, Francis M, Ni L, Cremers CW, Kimberling WJ, Sato Y, Phelps PD, Bellman SC, Wagner MJ, Pembrey M, et al. Chen A, et al. Among authors: bellman sc. Am J Med Genet. 1995 Sep 25;58(4):365-70. doi: 10.1002/ajmg.1320580413. Am J Med Genet. 1995. PMID: 8533848
97 results