Bilan F - Search Results

1

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 diagnosis.

Bilan F, Legendre M, Charraud V, Manière B, Couet D, Gilbert-Dussardier B, Kitzis A. Bilan F, et al. J Mol Diagn. 2012 Jan;14(1):46-55. doi: 10.1016/j.jmoldx.2011.08.003. Epub 2011 Oct 25. J Mol Diagn. 2012. PMID: 22033296 Free article.

2

Syntaxin 8 impairs trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) and inhibits its channel activity.

Bilan F, Thoreau V, Nacfer M, Dérand R, Norez C, Cantereau A, Garcia M, Becq F, Kitzis A. Bilan F, et al. J Cell Sci. 2004 Apr 15;117(Pt 10):1923-35. doi: 10.1242/jcs.01070. Epub 2004 Mar 23. J Cell Sci. 2004. PMID: 15039462

3

The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abolishes the activation of CFTR chloride channels by genistein.

Melin P, Thoreau V, Norez C, Bilan F, Kitzis A, Becq F. Melin P, et al. Among authors: bilan f. Biochem Pharmacol. 2004 Jun 15;67(12):2187-96. doi: 10.1016/j.bcp.2004.02.022. Biochem Pharmacol. 2004. PMID: 15163550

4

Characterization of the different BCR-ABL transcripts with a single multiplex RT-PCR.

Chasseriau J, Rivet J, Bilan F, Chomel JC, Guilhot F, Bourmeyster N, Kitzis A. Chasseriau J, et al. Among authors: bilan f. J Mol Diagn. 2004 Nov;6(4):343-7. doi: 10.1016/S1525-1578(10)60530-2. J Mol Diagn. 2004. PMID: 15507673 Free PMC article.

5

Proteasome-dependent pharmacological rescue of cystic fibrosis transmembrane conductance regulator revealed by mutation of glycine 622.

Norez C, Bilan F, Kitzis A, Mettey Y, Becq F. Norez C, et al. Among authors: bilan f. J Pharmacol Exp Ther. 2008 Apr;325(1):89-99. doi: 10.1124/jpet.107.134502. Epub 2008 Jan 29. J Pharmacol Exp Ther. 2008. PMID: 18230692 Free article.

6

Endosomal SNARE proteins regulate CFTR activity and trafficking in epithelial cells.

Bilan F, Nacfer M, Fresquet F, Norez C, Melin P, Martin-Berge A, Costa de Beauregard MA, Becq F, Kitzis A, Thoreau V. Bilan F, et al. Exp Cell Res. 2008 Jul 1;314(11-12):2199-211. doi: 10.1016/j.yexcr.2008.04.012. Epub 2008 May 4. Exp Cell Res. 2008. PMID: 18570918

7

[Molecular biology usefulness for rapid diagnosis of Down's syndrome and common aneuploidies].

Fauret AL, Bilan F, Patri S, Couet D, Marechaud M, Pierre F, Gilbert-Dussardier B, Kitzis A. Fauret AL, et al. Among authors: bilan f. Gynecol Obstet Fertil. 2009 Jul-Aug;37(7-8):611-9. doi: 10.1016/j.gyobfe.2009.05.007. Epub 2009 Jul 1. Gynecol Obstet Fertil. 2009. PMID: 19574080 French.

8

Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations.

El-Seedy A, Dudognon T, Bilan F, Pasquet MC, Reboul MP, Iron A, Kitzis A, Ladeveze V. El-Seedy A, et al. Among authors: bilan f. J Mol Diagn. 2009 Sep;11(5):488-93. doi: 10.2353/jmoldx.2009.090005. J Mol Diagn. 2009. PMID: 19710401 Free PMC article.

9

Orphan missense mutations in the cystic fibrosis transmembrane conductance regulator: A three-step biological approach to establishing a correlation between genotype and phenotype.

Fresquet F, Clement R, Norez C, Sterlin A, Melin P, Becq F, Kitzis A, Thoreau V, Bilan F. Fresquet F, et al. Among authors: bilan f. J Mol Diagn. 2011 Sep;13(5):520-7. doi: 10.1016/j.jmoldx.2011.05.004. Epub 2011 Jun 25. J Mol Diagn. 2011. PMID: 21708286 Free PMC article.

10

Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.

Colin E, Bonneau D, Boussion F, Guichet A, Delorme B, Triau S, Gillard P, Kitzis A, Bilan F. Colin E, et al. Among authors: bilan f. Prenat Diagn. 2012 Jul;32(7):692-4. doi: 10.1002/pd.3876. Epub 2012 Apr 20. Prenat Diagn. 2012. PMID: 22517486

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