Výsledky vyhledávání - Kitzis, Alain

CFTR Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy Autor El-Seedy, Ayman S., Shafiek, Hanaa, Kitzis, Alain, Ladevèze, Véronique

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A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients Autor Brajadenta, Gara Samara, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Kitzis, Alain, Thoreau, Vincent

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AB174. Genetic counseling in the couple with compound heterozygous carrier based on the result of mutation effect analysis on cystic fibrosis transmembrane conductance regulator (C... Autor Permata Sari, Ariestya Indah, Farhat, Raed, Ladeveze, Véronique, Faradz, Sultana M. H., Kitzis, Alain

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Characterization of the Different BCR-ABL Transcripts with a Single Multiplex RT-PCR Autor Chasseriau, Jacques, Rivet, Jérôme, Bilan, Frédéric, Chomel, Jean-Claude, Guilhot, François, Bourmeyster, Nicolas, Kitzis, Alain

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P-Glycoprotein-Mediated Transport of Moxifloxacin in a Calu-3 Lung Epithelial Cell Model Autor Brillault, Julien, De Castro, Whocely Victor, Harnois, Thomas, Kitzis, Alain, Olivier, Jean-Christophe, Couet, William

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Involvement of the Cdc42 Pathway in CFTR Post-Translational Turnover and in Its Plasma Membrane Stability in Airway Epithelial Cells Autor Ferru-Clément, Romain, Fresquet, Fleur, Norez, Caroline, Métayé, Thierry, Becq, Frédéric, Kitzis, Alain, Thoreau, Vincent

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Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia Autor Brajadenta, Gara Samara, Utari, Agustini, Patri, Sylvie, Bilan, Frédéric, Faradz, Sultana Muhammad Hussein, Kitzis, Alain, Thoreau, Vincent

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Residues in the Alternative Reading Frame Tumor Suppressor that Influence its Stability and p53-Independent Activities Autor di Tommaso, Anne, Hagen, Jussara, Tompkins, Van, Muniz, Viviane, Dudakovic, Amel, Kitzis, Alain, Ladeveze, Veronique, Quelle, Dawn E.

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Orphan Missense Mutations in the Cystic Fibrosis Transmembrane Conductance Regulator: A Three-Step Biological Approach to Establishing a Correlation Between Genotype and Phenotype Autor Fresquet, Fleur, Clement, Romain, Norez, Caroline, Sterlin, Adélaïde, Melin, Patricia, Becq, Frédéric, Kitzis, Alain, Thoreau, Vincent, Bilan, Frédéric

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Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations Autor El-Seedy, Ayman, Dudognon, Tony, Bilan, Frédéric, Pasquet, Marie-Claude, Reboul, Marie-Pierre, Iron, Albert, Kitzis, Alain, Ladeveze, Véronique

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Mini-dystrophin Expression Down-regulates Overactivation of G Protein–mediated IP3 Signaling Pathway in Dystrophin-deficient Muscle Cells Autor Balghi, Haouaria, Sebille, Stéphane, Constantin, Bruno, Patri, Sylvie, Thoreau, Vincent, Mondin, Ludivine, Mok, Elise, Kitzis, Alain, Raymond, Guy, Cognard, Christian

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N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele in CFTR Exon 7 Aberrant Splicing Autor Farhat, Raëd, Puissesseau, Géraldine, El-Seedy, Ayman, Pasquet, Marie-Claude, Adolphe, Catherine, Corbani, Sandra, Megarbané, André, Kitzis, Alain, Ladeveze, Véronique

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Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia Autor Alaa el Din, Ferdos, Patri, Sylvie, Thoreau, Vincent, Rodriguez-Ballesteros, Montserrat, Hamade, Eva, Bailly, Sabine, Gilbert-Dussardier, Brigitte, Abou Merhi, Raghida, Kitzis, Alain

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A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma Autor Zemmoura, Ilyess, Vourc'h, Patrick, Paubel, Agathe, Parfait, Béatrice, Cohen, Joëlle, Bilan, Frédéric, Kitzis, Alain, Rousselot, Cécilia, Parker, Fabrice, François, Patrick, Andres, Christian R.

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CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays Autor Legendre, Marine, Rodriguez - Ballesteros, Montserrat, Rossi, Massimiliano, Abadie, Véronique, Amiel, Jeanne, Revencu, Nicole, Blanchet, Patricia, Brioude, Frédéric, Delrue, Marie-Ange, Doubaj, Yassamine, Sefiani, Abdelaziz, Francannet, Christine, Holder-Espinasse, Muriel, Jouk, Pierre-Simon, Julia, Sophie, Melki, Judith, Mur, Sébastien, Naudion, Sophie, Fabre-Teste, Jennifer, Busa, Tiffany, Stamm, Stephen, Lyonnet, Stanislas, Attie-Bitach, Tania, Kitzis, Alain, Gilbert-Dussardier, Brigitte, Bilan, Frédéric

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