Sökresultat - Garry R. Cutting

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  1. 1
    Cystic fibrosis genetics: from molecular understanding to clinical application

    Cystic fibrosis genetics: from molecular understanding to clinical application av Garry R. Cutting

    Publicerad 2014
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  2. 2
    Modifier genes in Mendelian disorders: the example of cystic fibrosis

    Modifier genes in Mendelian disorders: the example of cystic fibrosis av Garry R. Cutting

    Publicerad 2010
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  3. 3
    MODIFIER GENETICS: Cystic Fibrosis

    MODIFIER GENETICS: Cystic Fibrosis av Garry R. Cutting

    Publicerad 2005
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  4. 4
    Assessing the Disease-Liability of Mutations in CFTR

    Assessing the Disease-Liability of Mutations in CFTR av Claude Férec, Garry R. Cutting

    Publicerad 2012
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  5. 5
    Update on gene modifiers in cystic fibrosis

    Update on gene modifiers in cystic fibrosis av Joseph M. Collaco, Garry R. Cutting

    Publicerad 2008
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  6. 6
    A single amino acid in gamma-aminobutyric acid rho 1 receptors affects competitive and noncompetitive components of picrotoxin inhibition.

    A single amino acid in gamma-aminobutyric acid rho 1 receptors affects competitive and noncompetitive components of picrotoxin inhibition. av T L Wang, Abigail S. Hackam, William B. Guggino, Garry R. Cutting

    Publicerad 1995
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  7. 7
    A variable dinucleotide repeat in the <i>CFTR</i> gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing

    A variable dinucleotide repeat in the <i>CFTR</i> gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing av Timothy Hefferon, Joshua D. Groman, Catherine E. Yurk, Garry R. Cutting

    Publicerad 2004
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  8. 8
    Increased Prevalence of Chronic Rhinosinusitis in Carriers of a Cystic Fibrosis Mutation

    Increased Prevalence of Chronic Rhinosinusitis in Carriers of a Cystic Fibrosis Mutation av XinJing Wang, Jean Kim, Rita McWilliams, Garry R. Cutting

    Publicerad 2005
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  9. 9
    Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy

    Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy av Corinne D. Boehm, Garry R. Cutting, M. Lachtermacher, Hugo W. Moser, Samuel S. Chong

    Publicerad 1999
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  10. 10
    Location and Duration of Treatment of Cystic Fibrosis Respiratory Exacerbations Do Not Affect Outcomes

    Location and Duration of Treatment of Cystic Fibrosis Respiratory Exacerbations Do Not Affect Outcomes av Joseph M. Collaco, Deanna Green, Garry R. Cutting, Kathleen Naughton, Peter J. Mogayzel

    Publicerad 2010
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  11. 11
    Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.

    Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane... av C.S. Chu, Bruce C. Trapnell, S M Curristin, Garry R. Cutting, Ronald G. Crystal

    Publicerad 1992
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  12. 12
    Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents.

    Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents. av S B Fulmer, Erik M. Schwiebert, Marcelo M. Morales, William B. Guggino, Garry R. Cutting

    Publicerad 1995
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  13. 13
    Quantification of the Relative Contribution of Environmental and Genetic Factors to Variation in Cystic Fibrosis Lung Function

    Quantification of the Relative Contribution of Environmental and Genetic Factors to Variation in Cystic Fibrosis Lung Function av Joseph M. Collaco, Scott M. Blackman, John McGready, Kathleen Naughton, Garry R. Cutting

    Publicerad 2010
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  14. 14
    Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

    Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains av Harry C. Dietz, Jorge Saraiva, Reed E. Pyeritz, Garry R. Cutting, Clair A. Francomano

    Publicerad 1992
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  15. 15
    Variant Cystic Fibrosis Phenotypes in the Absence of<i>CFTR</i>Mutations

    Variant Cystic Fibrosis Phenotypes in the Absence of<i>CFTR</i>Mutations av Joshua D. Groman, Michelle E. Meyer, Robert W. Wilmott, Pamela L. Zeitlin, Garry R. Cutting

    Publicerad 2002
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  16. 16
    Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

    Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease av Garry R. Cutting, Laura Kasch, Beryl J. Rosenstein, Lap-Chee Tsui, Haig H. Kazazian, Stylianos E. Antonarakis

    Publicerad 1990
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  17. 17
    CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP

    CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP av Erik M. Schwiebert, Marie E. Egan, Tae-Ho Hwang, S B Fulmer, Sandra S. Allen, Garry R. Cutting, William B. Guggino

    Publicerad 1995
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  18. 18
    Genetic Modifiers Play a Substantial Role in Diabetes Complicating Cystic Fibrosis

    Genetic Modifiers Play a Substantial Role in Diabetes Complicating Cystic Fibrosis av Scott M. Blackman, Stephanie Hsu, Lori L. Vanscoy, Joseph M. Collaco, Sarah E. Ritter, Kathleen Naughton, Garry R. Cutting

    Publicerad 2009
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  19. 19
    Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

    Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with... av Ada Hamosh, Bruce C. Trapnell, Pamela L. Zeitlin, Chahrzad Montrose‐Rafizadeh, Beryl J. Rosenstein, Ronald G. Crystal, Garry R. Cutting

    Publicerad 1991
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  20. 20
    Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders

    Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders av Samuel M. Moskowitz, James F. Chmiel, Darci L Sternen, Kwang‐Ting Cheng, Ronald L. Gibson, Susan G. Marshall, Garry R. Cutting

    Publicerad 2008
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