Early onset seizures and Rett-like features associated with mutations in CDKL5
EVANS, Julie C, ARCHER, Hayley L, WRIGHT, Michael J, PILZ, Daniela T, LAZAROU, Lazarus, COOPER, David N, SAMPSON, Julian R, BUTLER, Rachel, WHATLEY, Sharon D, CLARKE, Angus J, COLLEY, James P, RAVN, Kirstine, NIELSEN, Jytte Bieber, KERR, Alison, WILLIAMS, Elizabeth, CHRISTODOULOU, John, GECZ, Jozef, JARDINE, Philip E
Published in European journal of human genetics : EJHG (01.10.2005)
Published in European journal of human genetics : EJHG (01.10.2005)
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Journal Article
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
Archer, H L, Whatley, S D, Evans, J C, Ravine, D, Huppke, P, Kerr, A, Bunyan, D, Kerr, B, Sweeney, E, Davies, S J, Reardon, W, Horn, J, MacDermot, K D, Smith, R A, Magee, A, Donaldson, A, Crow, Y, Hermon, G, Miedzybrodzka, Z, Cooper, D N, Lazarou, L, Butler, R, Sampson, J, Pilz, D T, Laccone, F, Clarke, A J
Published in Journal of medical genetics (01.05.2006)
Published in Journal of medical genetics (01.05.2006)
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Journal Article
Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells
Goodwin, Richard G., Kell, W. Jonathan, Laidler, Peter, Long, C. Colin, Whatley, Sharon D., McKinley, Mark, Badminton, Michael N., Burnett, Alan K., Williams, Geraint T., Elder, George H.
Published in Blood (01.01.2006)
Published in Blood (01.01.2006)
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Journal Article
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease
Whatley, S D, Mason, N G, Khan, M, Zamiri, M, Badminton, M N, Missaoui, W N, Dailey, T A, Dailey, H A, Douglas, W S, Wainwright, N J, Elder, G H
Published in Journal of medical genetics (01.08.2004)
Published in Journal of medical genetics (01.08.2004)
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Journal Article
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome
CHARMAN, Tony, NEILSON, Tracey C. S, RAVN, Kirstine, MOUNT, Rebecca H, HASTINGS, Richard P, HULTEN, Maj, ØRSTAVIK, Karen Helene, REILLY, Sheena, CASS, Hilary, CLARKE, Angus, KERR, Alison M, BAILEY, Mark E. S, MASH, Veronica, ARCHER, Hayley, GARDINER, Mary T, KNUDSEN, Gun P. S, MCDONNELL, Aoibhinn, PERRY, Jacqueline, WHATLEY, Sharon D, BUNYAN, David J
Published in European journal of human genetics : EJHG (01.10.2005)
Published in European journal of human genetics : EJHG (01.10.2005)
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Journal Article
Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation
Whatley, Sharon D., Puy, Hervé, Morgan, Rhian R., Robreau, Anne-Marie, Roberts, Andrew G., Nordmann, Yves, Elder, George H., Deybach, Jean-Charles
Published in American journal of human genetics (01.10.1999)
Published in American journal of human genetics (01.10.1999)
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Journal Article
NTNG1 mutations are a rare cause of Rett syndrome
Archer, Hayley L., Evans, Julie C., Millar, David S., Thompson, Peter W., Kerr, Alison M., Leonard, Helen, Christodoulou, John, Ravine, David, Lazarou, Lazarus, Grove, Lucy, Verity, Christopher, Whatley, Sharon D., Pilz, Daniela T., Sampson, Julian R., Clarke, Angus J.
Published in American journal of medical genetics. Part A (01.04.2006)
Published in American journal of medical genetics. Part A (01.04.2006)
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Journal Article
Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphyria
Lamoril, Jérôme, Puy, Hervé, Whatley, Sharon D., Martin, Caroline, Woolf, Jacqueline R., Da Silva, Vasco, Deybach, Jean-Charles, Elder, George H.
Published in American journal of human genetics (01.05.2001)
Published in American journal of human genetics (01.05.2001)
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Journal Article
Co-Inheritance of Mutations in the Uroporphyrinogen Decarboxylase and Hemochromatosis Genes Accelerates the Onset of Porphyria Cutanea Tarda
Brady, Jennifer J., Roberts, Andrew G., Morgan, Rhian R., Whatley, Sharon D., Rowlands, Gareth Lloyd, Watson, Rosemarie, Elder, George H., Jackson, Helen A., Worwood, Mark W., Darby, Cindy, Shudell, Emma, Paiker, Janice
Published in Journal of investigative dermatology (01.11.2000)
Published in Journal of investigative dermatology (01.11.2000)
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Journal Article
Conference Proceeding
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern
Armstrong, D.K.B., Sharpe, P.C., Chambers, C.R., Whatley, S.D., Roberts, A.G., Elder, G.H.
Published in British journal of dermatology (1951) (01.10.2004)
Published in British journal of dermatology (1951) (01.10.2004)
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Journal Article
Late-Onset Erythropoietic Porphyria Caused by a Chromosome 18q Deletion in Erythroid Cells
Whatley, Sharon D., Thompson, Peter, Hoy, Terry, Fisher, Paul, Singer, Charles, Elder, George H., Aplin, Carolyn, Lovell, Christopher R.
Published in Journal of investigative dermatology (01.12.2001)
Published in Journal of investigative dermatology (01.12.2001)
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Journal Article
Hereditary coproporphyria: Comparison of molecular and biochemical investigations in a large family
Allen, K. R., Whatley, S. D., Degg, T. J., Barth, J. H.
Published in Journal of inherited metabolic disease (01.01.2005)
Published in Journal of inherited metabolic disease (01.01.2005)
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Journal Article
The frequency of hemochromatosis‐associated alleles is increased in British patients with sporadic porphyria cutanea tarda
Roberts, A. G., Whatley, S. D., Nicklin, S., Worwood, M., Pointon, J. J., Stone, C., Elder, G. H.
Published in Hepatology (Baltimore, Md.) (01.01.1997)
Published in Hepatology (Baltimore, Md.) (01.01.1997)
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