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Results 21-30 of 39 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2000The clinical significance of fragile sites on human chromosomesSutherland, G.; Baker, E.
2004Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear proteinSarafidou, T.; Kahl, C.; Martinez-Garay, I.; Mangelsdorf, M.; Gesk, S.; Baker, E.; Kokkinaki, M.; Talley, P.; Maltby, E.; French, L.; Harder, L.; Hinzmann, B.; Nobile, C.; Richkind, K.; Finnis, M.; Deloukas, P.; Sutherland, G.; Kutsche, K.; Moschonas, N.; Siebert, R.; et al.
1997Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeatYu, S.; Mangelsdorf, M.; Hewett, D.; Hobson, L.; Baker, E.; Eyre, H.; Lapsys, N.; Le Paslier, D.; Doggett, N.; Sutherland, G.; Richards, R.
1995Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndromeScott, H.; Blanch, L.; Guo, X.H.; Freeman, C.; Orsborn, A.; Baker, E.; Sutherland, G.; Morris, C.; Hopwood, J.
1998FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesisHewett, D.; Handt, O.; Hobson, L.; Mangelsdorf, M.; Eyre, H.; Baker, E.; Sutherland, G.; Schuffenhauer, S.; Mao, J.I.; Richards, R.
1995Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2Jones, C.; Penny, L.; Mattina, T.; Yu, S.; Baker, E.; Voullaire, L.; Langdon, W.; Sutherland, G.; Richards, R.; Tunnacliffe, A.
2005Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature reviewYu, S.; Baker, E.; Hinton, L.; Eyre, H.; Waters, W.; Higgins, S.; Sutherland, G.; Haan, E.
2003Forgotten fragile sites and related phenomenaSutherland, G.; Baker, E.
1995Assignment of the human pyruvate carboxylase gene (PC) to 11q13.4 by fluorescence in situ hybridisationWalker, M.; Baker, E.; Wallace, J.; Sutherland, G.
1997Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal diseaseNarahara, K.; Baker, E.; Ito, S.; Yokoyama, Y.; Yu, S.; Hewitt, D.; Sutherland, G.; Eccles, M.; Richards, R.

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