Pembrey ME - Search Results

1

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

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

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

4

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

5

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.

6

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

7

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

8

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

Huber I, Bitner-Glindzicz M, de Kok YJ, van der Maarel SM, Ishikawa-Brush Y, Monaco AP, Robinson D, Malcolm S, Pembrey ME, Brunner HG, et al. Huber I, et al. Among authors: pembrey me. Hum Mol Genet. 1994 Jul;3(7):1151-4. doi: 10.1093/hmg/3.7.1151. Hum Mol Genet. 1994. PMID: 7981685

9

Service experience using DNA analysis for genetic prediction in Duchenne muscular dystrophy.

Goodship J, Malcolm S, Robertson ME, Pembrey ME. Goodship J, et al. Among authors: pembrey me. J Med Genet. 1988 Jan;25(1):14-9. doi: 10.1136/jmg.25.1.14. J Med Genet. 1988. PMID: 2895187 Free PMC article.

10

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.

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