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The Journal of Pharmacology and Experimental Therapeutics|January 31, 2008
Proteasome-dependent pharmacological rescue of cystic fibrosis transmembrane conductance regulator revealed by mutation of glycine 622Caroline Norez, Frédéric Bilan, Alain Kitzis, et al.Biochemical Pharmacology|May 28, 2004
The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abolishes the activation of CFTR chloride channels by genisteinPatricia Melin, Vincent Thoreau, Caroline Norez, et al.European Journal of Human Genetics : EJHG|July 11, 2019
A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patientsGara Samara Brajadenta, Frédéric Bilan, Brigitte Gilbert-Dussardier, et al.American Journal of Medical Genetics. Part A|August 17, 2013
Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertionRadu Harbuz, Frédéric Bilan, Dominique Couet, et al.The Journal of Molecular Diagnostics : JMD|October 28, 2004
Characterization of the different BCR-ABL transcripts with a single multiplex RT-PCRJacques Chasseriau, Jérôme Rivet, Frédéric Bilan, et al.The Journal of Molecular Diagnostics : JMD|October 29, 2011
Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosisFrédéric Bilan, Marine Legendre, Valérie Charraud, et al.The Journal of Molecular Diagnostics : JMD|June 29, 2011
Orphan missense mutations in the cystic fibrosis transmembrane conductance regulator: A three-step biological approach to establishing a correlation between genotype and phenotypeFleur Fresquet, Romain Clement, Caroline Norez, et al.Journal of Cell Science|March 25, 2004
Syntaxin 8 impairs trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) and inhibits its channel activityFrédéric Bilan, Vincent Thoreau, Magali Nacfer, et al.The Journal of Molecular Diagnostics : JMD|August 28, 2009
Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutationsAyman El-Seedy, Tony Dudognon, Frédéric Bilan, et al.Orphanet Journal of Rare Diseases|July 25, 2016
Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalitiesBrigitte Gilbert-Dussardier, Audrey Briand-Suleau, Ingrid Laurendeau, et al.Pageof 4