Search Results - Sharon D. Whatley

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  1. 1
    Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease

    Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease by Sharon D. Whatley

    Published 2004
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  2. 2
    Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

    Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome by Franco Laccone, Ivonne Jünemann, Sharon D. Whatley, Rhian Morgan, Rachel Butler, Peter Huppke, David Ravine

    Published 2004
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  3. 3
    Diagnostic Strategies for Autosomal Dominant Acute Porphyrias: Retrospective Analysis of 467 Unrelated Patients Referred for Mutational Analysis of the HMBS, CPOX, or PPOX Gene

    Diagnostic Strategies for Autosomal Dominant Acute Porphyrias: Retrospective Analysis of 467 Unrelated Patients Referred for Mutational Analysis of the HMBS, CPOX, or PPOX Gene by Sharon D. Whatley, Nicola Mason, Jacqueline Woolf, Robert G. Newcombe, George H. Elder, Michael N. Badminton

    Published 2009
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  4. 4
    Best practice guidelines on first-line laboratory testing for porphyria

    Best practice guidelines on first-line laboratory testing for porphyria by Jacqueline Woolf, Joanne Marsden, T J Degg, Sharon D. Whatley, Paul Reed, Nadia Brazil, M F Stewart, Michael N. Badminton

    Published 2016
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  5. 5
    X‐linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia

    X‐linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia by Christoph Landefeld, Karim Kentouche, Bernd Gruhn, Thomas Stauch, Steve Rößler, Detlef Schuppan, Sharon D. Whatley, James F. Beck, Ulrich Stölzel

    Published 2015
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  6. 6
    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

    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... by Sharon D. Whatley, Hervé Puy, Rhian Morgan, Anne-Marie Robréau, Andrew Roberts, Y Nordmann, George H. Elder, Jean‐Charles Deybach

    Published 1999
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  7. 7
    Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance

    Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance by S. Alexander Holme, Sharon D. Whatley, Andrew Roberts, A. Anstey, George H. Elder, R.D. Ead, M F Stewart, P.M. Farr, Helen M. Lewis, Nicholas P. Davies, Marion I. White, R Ackroyd, Michael N. Badminton

    Published 2008
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  8. 8
    Early onset seizures and Rett-like features associated with mutations in CDKL5

    Early onset seizures and Rett-like features associated with mutations in CDKL5 by Julie Evans, Hayley Archer, James Colley, Kirstine Ravn, Jytte Bieber Nielsen, Alison Kerr, Elizabeth Williams, John Christodoulou, Jozef Gécz, Philip Jardine, Michael Wright, Daniela T. Pilz, L. Lazarou, D.N. Cooper, Julian R. Sampson, Rachel Butler, Sharon D. Whatley, Angus Clarke

    Published 2005
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  9. 9
    C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

    C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload by Sharon D. Whatley, Sarah Ducamp, Laurent Gouya, Bernard Grandchamp, Carole Beaumont, Michael N. Badminton, George H. Elder, S. Alexander Holme, A. Anstey, Michelle Parker, Anne V. Corrigall, Peter N. Meissner, Richard Hift, Joanne Marsden, Yun Ma, Giorgina Mieli‐Vergani, Jean‐Charles Deybach, Hervé Puy

    Published 2008
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