Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
Knight, S.J.L., Flannery, A.V., Hirst, M.C., Campbell, L., Christodoulou, Z., Phelps, S.R., Pointon, J., Middleton-Price, H.R., Barnicoat, A., Pembrey, M.E., Holland, J., Oostra, B.A., Bobrow, M., Davies, K.E.
Published in Cell (16.07.1993)
Published in Cell (16.07.1993)
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Journal Article
3A-7 Maternal and child glutathione-S-transferase M1 polymorphism modifies risk of childhood asthma associated with prenatal paracetamol exposure
Shaheen, S.O, Newson, R.B, Holloway, J.W, Rose-Zerilli, M.J, Pembrey, M.E, Ring, S.M, Henderson, A.J
Published in Early human development (2007)
Published in Early human development (2007)
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Journal Article
P1-54 Maternal and child glutathione-S-transferase M1 and T1 polymorphisms modify effect of maternal smoking in pregnancy on childhood lung function
Henderson, A.J, Newson, R.B, Holloway, J.W, Rose-Zerilli, M.J, Pembrey, M.E, Ring, S.M, Shaheen, S.O
Published in Early human development (2007)
Published in Early human development (2007)
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Journal Article
Radiological malformations of the ear in pendred syndrome
Phelps, P.D., Coffey, R.A., Trembath, R.C., Luxon, L.M., Grossman, A.B., Britton, K.E., Kendall-Taylor, P., Graham, J.M., Cadge, B.C., Stephens, S.G.D., Pembrey, M.E., Reardon, W.
Published in Clinical radiology (01.04.1998)
Published in Clinical radiology (01.04.1998)
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Journal Article
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
Reardon, W., Pembrey, M.E., Trembath, R.C., Ross, R.J.M., Sweeney, M.G., Harding, A.E., Luxon, L.M.
Published in The Lancet (British edition) (05.12.1992)
Published in The Lancet (British edition) (05.12.1992)
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Journal Article
Uniparental paternal disomy in Angelman's syndrome
Malcolm, S., Clayton-Smith, J., Nichols, M., Pembrey, M.E., Armour, J.A.L., Jeffreys, A.J., Robb, S., Webb, T.
Published in The Lancet (British edition) (23.03.1991)
Published in The Lancet (British edition) (23.03.1991)
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Journal Article
Multiple origins for phenylketonuria in Europe
EISENSMITH, R. C, OKANO, Y, HAGENFELDT, L, REY, F, MUNNICH, A, LYONNET, S, COCKBURN, F, CONNOR, J. M, PEMBREY, M. E, SMITH, I, GITZELMAN, R, STEINMANN, B, DASOVICH, M, APOLD, J, EIKEN, H. G, GIOVANNINI, M, RIVA, E, LONGHI, R, ROMANO, C, CERONE, R, NAUGHTEN, E. R, MULLINS, C, CAHALANE, S, WANG, T, OZALP, I, FEKETE, G, SCHULER, D, BERENCSI, G. Y, GÜTTLER, F, NASZ, I, BRDICKA, R, KAMARYT, J, PIJACKOVA, A, CABALSKA, B, BOSZKOWA, K, SCHWARTZ, E, KALININ, V. N, JIN, L, CHAKRABORTY, R, LOU, H, WOO, S. L. C, GULDBERG, P, LICHTER-KONECKI, U, KONECKI, D. S, SVENSSON, E
Published in American journal of human genetics (01.12.1992)
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Published in American journal of human genetics (01.12.1992)
Journal Article
A multipedigree linkage study of X-linked deafness: Linkage to Xq13-q21 and evidence for genetic heterogeneity
Reardon, W., Middleton-Price, H.R., Sandkuijl, L., Phelps, P., Bellman, S., Luxon, L., Pembrey, M.E., Malcolm, S.
Published in Genomics (San Diego, Calif.) (01.12.1991)
Published in Genomics (San Diego, Calif.) (01.12.1991)
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Multicentre study of antenatal calyceal dilatation detected by ultrasound
Chittty, L S, Pembrey, M E, Chudleigh, P M, Campbell, S
Published in The Lancet (British edition) (06.10.1990)
Published in The Lancet (British edition) (06.10.1990)
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Journal Article
Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome)
Davies, K E, Mattei, M G, Mattei, J F, Veenema, H, McGlade, S, Harper, K, Tommerup, N, Nielsen, K B, Mikkelsen, M, Beighton, P
Published in Human genetics (01.01.1985)
Published in Human genetics (01.01.1985)
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Journal Article
Unusual presentation of fragile X syndrome
Temple, I K, Baraitser, M, Pembrey, M E, Butler, L, Jacobs, P, Davies, K E
Published in The Lancet (British edition) (03.11.1990)
Published in The Lancet (British edition) (03.11.1990)
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Journal Article
Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis
Ni, L, Wagner, M J, Kimberling, W J, Pembrey, M E, Grundfast, K M, Kumar, S, Daiger, S P, Wells, D E, Johnson, K, Smith, R J
Published in American journal of medical genetics (01.06.1994)
Published in American journal of medical genetics (01.06.1994)
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Journal Article
The major cystic fibrosis mutation in a British population
McMahon, C J, Genet, S A, Middleton-Price, H R, Rutland, P, Pembrey, M E, Malcolm, S
Published in Human genetics (01.12.1990)
Published in Human genetics (01.12.1990)
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Journal Article
Neuropathologic changes in ornithine carbamoyl transferase deficiency
Leonard, J.V., Pembrey, M.E., Oley, C.A., Harding, B.N.
Published in The Journal of pediatrics (01.12.1986)
Published in The Journal of pediatrics (01.12.1986)
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