Search Results - Calmels, Nadège

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  1. 1
    Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B

    Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B by Damaj-Fourcade, Rayanne, Meyer, Nicolas, Obringer, Cathy, Le May, Nicolas, Calmels, Nadège, Laugel, Vincent

    Published 2022
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  2. 2
    Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

    Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome by Schalk, Audrey, Greff, Géraldine, Drouot, Nathalie, Obringer, Cathy, Dollfus, Hélène, Laugel, Vincent, Chelly, Jamel, Calmels, Nadège

    Published 2018
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  3. 3
    Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen

    Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen by Calmels, Nadège, Seznec, Hervé, Villa, Pascal, Reutenauer, Laurence, Hibert, Marcel, Haiech, Jacques, Rustin, Pierre, Koenig, Michel, Puccio, Hélène

    Published 2009
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  4. 4
    Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome

    Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome by Epanchintsev, Alexey, Rauschendorf, Marc-Alexander, Costanzo, Federico, Calmels, Nadege, Obringer, Cathy, Sarasin, Alain, Coin, Frederic, Laugel, Vincent, Egly, Jean-Marc

    Published 2020
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  5. 5
    The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia

    The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia by Calmels, Nadège, Schmucker, Stéphane, Wattenhofer-Donzé, Marie, Martelli, Alain, Vaucamps, Nadège, Reutenauer, Laurence, Messaddeq, Nadia, Bouton, Cécile, Koenig, Michel, Puccio, Hélène

    Published 2009
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  6. 6
    Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations

    Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations by Chikhaoui, Asma, Kraoua, Ichraf, Calmels, Nadège, Bouchoucha, Sami, Obringer, Cathy, Zayoud, Khouloud, Montagne, Benjamin, M’rad, Ridha, Abdelhak, Sonia, Laugel, Vincent, Ricchetti, Miria, Turki, Ilhem, Yacoub-Youssef, Houda

    Published 2022
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  7. 7
    Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B

    Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B by Zayoud, Khouloud, Kraoua, Ichraf, Chikhaoui, Asma, Calmels, Nadège, Bouchoucha, Sami, Obringer, Cathy, Crochemore, Clément, Najjar, Dorra, Zarrouk, Sinda, Miladi, Najoua, Laugel, Vincent, Ricchetti, Miria, Turki, Ilhem, Yacoub-Youssef, Houda

    Published 2021
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  8. 8
    X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

    X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation by Barthélémy, Inès, Calmels, Nadège, Weiss, Robert B., Tiret, Laurent, Vulin, Adeline, Wein, Nicolas, Peccate, Cécile, Drougard, Carole, Beroud, Christophe, Deburgrave, Nathalie, Thibaud, Jean-Laurent, Escriou, Catherine, Punzón, Isabel, Garcia, Luis, Kaplan, Jean-Claude, Flanigan, Kevin M., Leturcq, France, Blot, Stéphane

    Published 2020
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  9. 9
    Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

    Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing by Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent

    Published 2016
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