Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy
Garcia, C C, Blair, H J, Seager, M, Coulthard, A, Tennant, S, Buddles, M, Curtis, A, Goodship, J A
Published in Journal of medical genetics (01.03.2004)
Published in Journal of medical genetics (01.03.2004)
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The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts
Fremeaux-Bacchi, V, Kemp, E J, Goodship, J A, Dragon-Durey, M-A, Strain, L, Loirat, C, Deng, H-W, Goodship, T H J
Published in Journal of medical genetics (01.11.2005)
Published in Journal of medical genetics (01.11.2005)
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Journal Article
Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome
Gennery, A.R, Slatter, M.A, Rice, J, Hoefsloot, L.H, Barge, D, McLean-Tooke, A, Montgomery, T, Goodship, J.A, Burt, A.D, Flood, T.J, Abinun, M, Cant, A.J, Johnson, D
Published in Clinical and experimental immunology (01.07.2008)
Published in Clinical and experimental immunology (01.07.2008)
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Journal Article
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
Ryan, A K, Goodship, J A, Wilson, D I, Philip, N, Levy, A, Seidel, H, Schuffenhauer, S, Oechsler, H, Belohradsky, B, Prieur, M, Aurias, A, Raymond, F L, Clayton-Smith, J, Hatchwell, E, McKeown, C, Beemer, F A, Dallapiccola, B, Novelli, G, Hurst, J A, Ignatius, J, Green, A J, Winter, R M, Brueton, L, Brøndum-Nielsen, K, Scambler, P J
Published in Journal of medical genetics (01.10.1997)
Published in Journal of medical genetics (01.10.1997)
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Journal Article
FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality
Fantes, J.A., Boland, E., Ramsay, J., Donnai, D., Splitt, M., Goodship, J.A., Stewart, H., Whiteford, M., Gautier, P., Harewood, L., Holloway, S., Sharkey, F., Maher, E., van Heyningen, V., Clayton-Smith, J., Fitzpatrick, D.R., Black, G.C.M.
Published in American journal of human genetics (01.04.2008)
Published in American journal of human genetics (01.04.2008)
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Journal Article
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
Scambler, P.J, Kelly, D, Lindsay, E, Williamson, R, Goldberg, R, Shprintzen, R, Wilson, D.I, Goodship, J.A, Cross, I.E, Burn, J
Published in The Lancet (British edition) (09.05.1992)
Published in The Lancet (British edition) (09.05.1992)
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Journal Article
Primary, Nonsyndromic Vesicoureteric Reflux and Its Nephropathy Is Genetically Heterogeneous, with a Locus on Chromosome 1
Feather, Sally A., Malcolm, Sue, Woolf, Adrian S., Wright, Victoria, Blaydon, Diana, Reid, Christopher J.D., Flinter, Frances A., Proesmans, Willem, Devriendt, Koen, Carter, Joan, Warwicker, Paul, Goodship, Timothy H.J., Goodship, Judith A.
Published in American journal of human genetics (01.04.2000)
Published in American journal of human genetics (01.04.2000)
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Journal Article
Centiles for adult head circumference
Bushby, K M, Cole, T, Matthews, J N, Goodship, J A
Published in Archives of disease in childhood (01.10.1992)
Published in Archives of disease in childhood (01.10.1992)
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Journal Article
Evc Regulates a Symmetrical Response to Shh Signaling in Molar Development
Nakatomi, M., Hovorakova, M., Gritli-Linde, A., Blair, H.J., MacArthur, K., Peterka, M., Lesot, H., Peterkova, R., Ruiz-Perez, V.L., Goodship, J.A., Peters, H.
Published in Journal of dental research (01.03.2013)
Published in Journal of dental research (01.03.2013)
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Journal Article
The decay accelerating factor mutation I197V found in hemolytic uraemic syndrome does not impair complement regulation
Kavanagh, D., Burgess, R., Spitzer, D., Richards, A., Diaz-Torres, M.L., Goodship, J.A., Hourcade, D.E., Atkinson, J.P., Goodship, T.H.J.
Published in Molecular immunology (01.05.2007)
Published in Molecular immunology (01.05.2007)
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Journal Article
Deletions within chromosome 22q11 in familial congenital heart disease
Wilson, D.I, Goodship, J.A, Burn, J, Cross, I.E, Scambler, P.J
Published in The Lancet (British edition) (05.09.1992)
Published in The Lancet (British edition) (05.09.1992)
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Journal Article
A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features
Crow, Yanick Joseph, Goodship, J.A., Wright, C., Coady, A.M., Conley, M.E., Gennery, A.R.
Published in American journal of medical genetics. Part A (01.06.2006)
Published in American journal of medical genetics. Part A (01.06.2006)
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Journal Article
Genetic studies into inherited and sporadic hemolytic uremic syndrome
Warwicker, Paul, Goodship, Timothy H.J., Donne, Rosemary L., Pirson, Yves, Nicholls, Anthony, Ward, Roy M., Turnpenny, Peter, Goodship, Judith A.
Published in Kidney international (01.04.1998)
Published in Kidney international (01.04.1998)
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Journal Article
MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 2 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2 AND SEVERE INTRAUTERINE GROWTH RETARDATION
WEBB, A. L., STURGISS, S., WARWICKER, P., ROBSON, S. C., GOODSHIP, J. A., WOLSTENHOLME, J.
Published in Prenatal diagnosis (01.10.1996)
Published in Prenatal diagnosis (01.10.1996)
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Journal Article
A prospective cytogenetic study of 36 cases of DiGeorge syndrome
WILSON, D. I, CROSS, I. E, WOLSTENHOLME, J, GOODSHIP, J. A, BROW, J, SCAMBLER, P. J, BAIN, H. H, TAYLOR, J. F., WALSH, K, BANKIER, A, BURN, J
Published in American journal of human genetics (01.11.1992)
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Published in American journal of human genetics (01.11.1992)
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