Search Results - Chandran Ka

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  1. 1

    Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation by Chandran Ka, Gérald Le Gac, Emilie Letocart, Isabelle Gourlaouen, Brigitte Martin, Claude Férec

    Published in Haematologica (2007-09-01)
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  2. 2

    HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype by Gérald Le Gac, Chandran Ka, Isabelle Gourlaouen, Laurence Bryckaert, Anne-Yvonne Mercier, Brigitte Chanu, Virginie Scotet, Claude Férec

    Published in Advances in Hematology (2009-01-01)
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  3. 3

    The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype by Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, Ahmad Elbahnsi, Sandrine Maestri, Isabelle Gourlaouen, Claude Férec, Chandran Ka, Isabelle Callebaut, Gérald Le Gac

    Published in HGG Advances (2024-10-01)
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  4. 4

    The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in C... by Raphaël Santinelli, Nathalie Benz, Julie Guellec, Fabien Quinquis, Ervin Kocas, Johan Thomas, Tristan Montier, Chandran Ka, Emilie Luczka-Majérus, Edouard Sage, Claude Férec, Christelle Coraux, Pascal Trouvé

    Published in Cells (2024-01-01)
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  5. 5

    The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism by Chandran Ka, Julie Guellec, Xavier Pepermans, Caroline Kannengiesser, Cécile Ged, Wim Wuyts, David Cassiman, Victor de Ledinghen, Bruno Varet, Caroline de Kerguenec, Claire Oudin, Isabelle Gourlaouen, Thibaud Lefebvre, Claude Férec, Isabelle Callebaut, Gérald Le Gac

    Published in Haematologica (2018-11-01)
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  6. 6

    Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants by Raphaël Leman, Hélène Tubeuf, Sabine Raad, Isabelle Tournier, Céline Derambure, Raphaël Lanos, Pascaline Gaildrat, Gaia Castelain, Julie Hauchard, Audrey Killian, Stéphanie Baert-Desurmont, Angelina Legros, Nicolas Goardon, Céline Quesnelle, Agathe Ricou, Laurent Castera, Dominique Vaur, Gérald Le Gac, Chandran Ka, Yann Fichou, Françoise Bonnet-Dorion, Nicolas Sevenet, Marine Guillaud-Bataille, Nadia Boutry-Kryza, Inès Schultz, Virginie Caux-Moncoutier, Maria Rossing, Logan C. Walker, Amanda B. Spurdle, Claude Houdayer, Alexandra Martins, Sophie Krieger

    Published in BMC Genomics (2020-01-01)
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