Pembrey ME - Search Results

1

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

2

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. Hum Mol Genet. 1997 Nov;6(12):2179-85. doi: 10.1093/hmg/6.12.2179. Hum Mol Genet. 1997. PMID: 9328483

3

Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb.

Buxton JL, Chan CT, Gilbert H, Clayton-Smith J, Burn J, Pembrey M, Malcolm S. Buxton JL, et al. Hum Mol Genet. 1994 Aug;3(8):1409-13. doi: 10.1093/hmg/3.8.1409. Hum Mol Genet. 1994. PMID: 7987324

4

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. 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.

5

Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome.

Smith JC, Webb T, Pembrey ME, Nichols M, Malcolm S. Smith JC, et al. Among authors: pembrey me. Hum Genet. 1992 Feb;88(4):376-8. doi: 10.1007/BF00215668. Hum Genet. 1992. PMID: 1740313

6

Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.

Bitner-Glindzicz M, de Kok Y, Summers D, Huber I, Cremers FP, Ropers HH, Reardon W, Pembrey ME, Malcolm S. Bitner-Glindzicz M, et al. Among authors: pembrey me. J Med Genet. 1994 Dec;31(12):916-21. doi: 10.1136/jmg.31.12.916. J Med Genet. 1994. PMID: 7891371 Free PMC article.

7

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

8

X-linked deafness, stapes gushers and a distinctive defect of the inner ear.

Phelps PD, Reardon W, Pembrey M, Bellman S, Luxom L. Phelps PD, et al. Neuroradiology. 1991;33(4):326-30. doi: 10.1007/BF00587816. Neuroradiology. 1991. PMID: 1922747

9

Neuro-otological function in X-linked hearing loss: a multipedigree assessment and correlation with other clinical parameters.

Reardon W, Bellman S, Phelps P, Pembrey M, Luxon LM. Reardon W, et al. Acta Otolaryngol. 1993 Nov;113(6):706-14. doi: 10.3109/00016489309135889. Acta Otolaryngol. 1993. PMID: 8291427

10

Genetic prediction in X-linked agammaglobulinaemia.

Lau YL, Levinsky RJ, Malcolm S, Goodship J, Winter R, Pembrey M. Lau YL, et al. Am J Med Genet. 1988 Oct;31(2):437-48. doi: 10.1002/ajmg.1320310224. Am J Med Genet. 1988. PMID: 3232706

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