檢索結果 - Kitzis, Alain

CFTR Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy 由 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 由 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... 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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