M. Pasquet

发表

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes

A. Kitzis, E. Girodon, T. Bienvenu, 2012, Human mutation.

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt.

A. Kitzis, V. Ladevèze, H. Shafiek, 2016, Cellular and molecular biology.

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

A. Mégarbané, A. Kitzis, V. Ladevèze, 2015, BioMed research international.

Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations.

A. Kitzis, I. Sermet-Gaudelus, E. Bieth, 2014, Biochemistry and cell biology = Biochimie et biologie cellulaire.

Minigene Analysis of the c.743 + 40A > G Intronic Variant in the CFTR Gene

A. Kitzis, V. Ladevèze, A. El-Seedy, 2014 .

In cellulo analyses of the p.Val322Ala mutation on the CFTR protein conformation and activity.

A. Kitzis, V. Ladevèze, C. Norez, 2017, Comptes rendus biologies.

Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations.

A. Kitzis, M. Audrézet, E. Bieth, 2012, Journal of Cystic Fibrosis.

Consultations in Molecular Diagnostics Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations

A. Kitzis, F. Bilan, V. Ladevèze, 2009 .

In cellulo analyses of the p.Val322Ala mutation on the CFTR protein conformation and activity.

A. Kitzis, V. Ladevèze, C. Norez, 2017, Comptes rendus biologies.

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

V. Ladevèze, A. El-Seedy, M. Reboul, 2009, Journal of Molecular Diagnostics.

Molecular biology and genetics

C. Norez, F. Becq, A. El-Seedy, 2014 .