檢索結果 - Férec, Claude

Assessing the Disease-Liability of Mutations in CFTR 由 Ferec, Claude, Cutting, Garry R.

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In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis 由 Trouvé, Pascal, Génin, Emmanuelle, Férec, Claude

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The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis 由 Trouvé, Pascal, Férec, Claude, Génin, Emmanuelle

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The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery 由 Scotet, Virginie, L’Hostis, Carine, Férec, Claude

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LINE-1 Endonuclease-Dependent Retrotranspositional Events Causing Human Genetic Disease: Mutation Detection Bias and Multiple Mechanisms of Target Gene Disruption 由 Chen, Jian-Min, Férec, Claude, Cooper, David N.

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Mechanism of Alu integration into the human genome 由 Chen, Jian-Min, Férec, Claude, Cooper, David N.

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Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCE genes 由 Chen, Jian-Min, Cooper, David N, Férec, Claude

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Gene Conversion in Human Genetic Disease 由 Chen, Jian-Min, Férec, Claude, Cooper, David N.

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Searching for potential microRNA-binding site mutations amongst known disease-associated 3′ UTR variants 由 Chuzhanova, Nadia, Cooper, David N., Férec, Claude, Chen, Jian-Min

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Validation of High-Resolution DNA Melting Analysis for Mutation Scanning of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene 由 Audrezet, Marie-Pierre, Dabricot, Aurélia, Le Marechal, Cédric, Ferec, Claude

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The Calpain, Caspase 12, Caspase 3 Cascade Leading to Apoptosis Is Altered in F508del-CFTR Expressing Cells 由 Kerbiriou, Mathieu, Teng, Ling, Benz, Nathalie, Trouvé, Pascal, Férec, Claude

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Biophysical Characterisation of Calumenin as a Charged F508del-CFTR Folding Modulator 由 Tripathi, Rashmi, Benz, Nathalie, Culleton, Bridget, Trouvé, Pascal, Férec, Claude

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Distribution of Rhesus blood group antigens and weak D alleles in the population of Albania 由 Xhetani, Merita, Seferi, Irena, Férec, Claude, Zoraqi, Grigor, Fichou, Yann

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Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in the ACKR1 Gene Encoding the Duffy Antigens 由 Fichou, Yann, Berlivet, Isabelle, Richard, Gaëlle, Tournamille, Christophe, Castilho, Lilian, Férec, Claude

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Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors 由 Thongbut, Jairak, Raud, Loann, Férec, Claude, Promwong, Charuporn, Nuchnoi, Pornlada, Fichou, Yann

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A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of PRSS1, SPINK1, CTRC and CFTR Genes in 253 Young Fren... 由 Masson, Emmanuelle, Chen, Jian-Min, Audrézet, Marie-Pierre, Cooper, David N., Férec, Claude

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Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements 由 Moisan, Stéphanie, Berlivet, Soizik, Ka, Chandran, Gac, Gérald Le, Dostie, Josée, Férec, Claude

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CFTR Cooperative Cis-Regulatory Elements in Intestinal Cells 由 Collobert, Mégane, Bocher, Ozvan, Le Nabec, Anaïs, Génin, Emmanuelle, Férec, Claude, Moisan, Stéphanie

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3D Chromatin Organization Involving MEIS1 Factor in the cis-Regulatory Landscape of GJB2 由 Le Nabec, Anaïs, Blotas, Clara, Briset, Alinéor, Collobert, Mégane, Férec, Claude, Moisan, Stéphanie

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Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia 由 Le Gac, Gérald, Congiu, Rita, Gourlaouen, Isabelle, Cau, Milena, Férec, Claude, Melis, Maria Antonietta

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