Search Results - Frances J.D. Smith

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  1. 1
    Revisiting pachyonychia congenita: a case‐cohort study of 815 patients

    Revisiting pachyonychia congenita: a case‐cohort study of 815 patients by Liat Samuelov, Frances J.D. Smith, C. David Hansen, Eli Sprecher

    Published 2019
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  2. 2
    A Novel Connexin 30 Mutation in Clouston Syndrome

    A Novel Connexin 30 Mutation in Clouston Syndrome by Frances J.D. Smith, W.H. Irwin McLean, Susan M. Morley

    Published 2002
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  3. 3
    Plectin and human genetic disorders of the skin and muscle

    Plectin and human genetic disorders of the skin and muscle by Jouni Uitto, Leena Pulkkinen, Frances J.D. Smith, W.H. Irwin McLean

    Published 1996
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  4. 4
    Statins Downregulate K6a Promoter Activity: A Possible Therapeutic Avenue for Pachyonychia Congenita

    Statins Downregulate K6a Promoter Activity: A Possible Therapeutic Avenue for Pachyonychia Congenita by Yiwei Zhao, Ulrike Gärtner, Frances J.D. Smith, W.H. Irwin McLean

    Published 2011
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  5. 5
    Filaggrin's Fuller Figure: A Glimpse into the Genetic Architecture of Atopic Dermatitis

    Filaggrin's Fuller Figure: A Glimpse into the Genetic Architecture of Atopic Dermatitis by Aileen Sandilands, Frances J.D. Smith, Alan D. Irvine, W.H. Irwin McLean

    Published 2007
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  6. 6
    The Phenotypic and Molecular Genetic Features of Pachyonychia Congenita

    The Phenotypic and Molecular Genetic Features of Pachyonychia Congenita by W.H. Irwin McLean, C. David Hansen, Mark J. Eliason, Frances J.D. Smith

    Published 2011
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  7. 7
    Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex

    Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex by Sarah D. Atkinson, Victoria McGilligan, Haihui Liao, Ildikó Szeverényi, Frances J.D. Smith, Tara Moore, W.H. Irwin McLean

    Published 2011
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  8. 8
    A large genome center's improvements to the Illumina sequencing system

    A large genome center's improvements to the Illumina sequencing system by Michael A. Quail, Iwanka Kozarewa, Frances J.D. Smith, Aylwyn Scally, Philip J. Stephens, Richard Durbin, Harold Swerdlow, Daniel J. Turner

    Published 2008
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  9. 9
    Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly

    Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly by Ann Sergeant, Linda Campbell, Peter Hull, Martin Porter, Colin N. A. Palmer, Frances J.D. Smith, W.H. Irwin McLean, Colin S. Munro

    Published 2008
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  10. 10
    Development of Therapeutic siRNAs for Pachyonychia Congenita

    Development of Therapeutic siRNAs for Pachyonychia Congenita by Frances J.D. Smith, Robyn P. Hickerson, Jane M. Sayers, Robert E. Reeves, Christopher H. Contag, Devin Leake, Roger L. Kaspar, W.H. Irwin McLean

    Published 2007
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  11. 11
    Filaggrin null mutations are associated with increased asthma severity in children and young adults

    Filaggrin null mutations are associated with increased asthma severity in children and young adults by Colin N. A. Palmer, Tahmina Ismail, Simon P. Lee, Ana Terron-Kwiatkowski, Yiwei Zhao, Haihui Liao, Frances J.D. Smith, W.H. Irwin McLean, Somnath Mukhopadhyay

    Published 2007
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  12. 12
    A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy

    A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy by Alan D. Irvine, C. M. Coleman, Jonathan E. Moore, Ole Swensson, Steven Morgan, John McCarthy, Frances J.D. Smith, Graeme Black, W.H. Irwin McLean

    Published 2002
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  13. 13
    Expanding the Phenotypic Spectrum of Olmsted Syndrome

    Expanding the Phenotypic Spectrum of Olmsted Syndrome by Neil Wilson, Christian Cole, Leonard M. Milstone, Ana Elisa Kiszewski, C. David Hansen, Edel A. O’Toole, Mary Schwartz, W.H. Irwin McLean, Frances J.D. Smith

    Published 2015
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  14. 14
    Digestibility of gluten proteins is reduced by baking and enhanced by starch digestion

    Digestibility of gluten proteins is reduced by baking and enhanced by starch digestion by Frances J.D. Smith, Xiaoyan Pan, Vincent Bellido, Geraldine A. Toole, Fred Gates, Martin S. J. Wickham, Peter R. Shewry, Serafim Bakalis, Philip J. Padfield, E. N. Clare Mills

    Published 2015
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  15. 15
    Single-Nucleotide-Specific siRNA Targeting in a Dominant-Negative Skin Model

    Single-Nucleotide-Specific siRNA Targeting in a Dominant-Negative Skin Model by Robyn P. Hickerson, Frances J.D. Smith, Robert E. Reeves, Christopher H. Contag, Devin Leake, Sancy A. Leachman, Leonard M. Milstone, W.H. Irwin McLean, Roger L. Kaspar

    Published 2007
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  16. 16
    Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis

    Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis by Dun Jack Fu, Calum Thomson, Declan P. Lunny, Patricia J.C. Dopping-Hepenstal, John A. McGrath, Frances J.D. Smith, W.H. Irwin McLean, Deena M. Leslie Pedrioli

    Published 2013
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  17. 17
    Antagonistic coevolution accelerates molecular evolution

    Antagonistic coevolution accelerates molecular evolution by Steve Paterson, Tom Vogwill, Angus Buckling, Rebecca Benmayor, Andrew J. Spiers, Nicholas R. Thomson, Mike Quail, Frances J.D. Smith, Danielle Walker, Ben Libberton, Andy Fenton, Neil Hall, Michael A. Brockhurst

    Published 2010
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  18. 18
    The molecular genetic analysis of the expanding pachyonychia congenita case collection

    The molecular genetic analysis of the expanding pachyonychia congenita case collection by Neil Wilson, Edel A. O’Toole, Leonard M. Milstone, C. David Hansen, Andrew A Shepherd, Elise Al-Asadi, M.E. Schwartz, W.H. Irwin McLean, Eli Sprecher, Frances J.D. Smith

    Published 2014
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  19. 19
    Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis

    Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis by Aileen Sandilands, Gráinne M. O’Regan, Haihui Liao, Yiwei Zhao, Ana Terron-Kwiatkowski, Rosemarie M. Watson, Andrew Cassidy, David Goudie, Frances J.D. Smith, W.H. Irwin McLean, Alan D. Irvine

    Published 2006
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  20. 20
    Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita

    Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita by Sancy A. Leachman, Robyn P. Hickerson, Peter Hull, Frances J.D. Smith, Leonard M. Milstone, E. Birgitte Lane, Sherri J. Bale, Dennis R. Roop, W.H. Irwin McLean, Roger L. Kaspar

    Published 2008
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