PU-PH Biologie cellulaire, HDR

Directeur du groupe « Génétique des maladies rares »

Publications depuis 2012

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C. CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. Hum Mutat. 2017 Jun 12. doi: 10.1002/humu.23276. [Epub ahead of print] PubMed PMID: 28603918.

Ladeveze V, Farhat R, El Seedy A and Kitzis A, 2016, Multi-Functional Consequences of a Single Mutation of CFTR of the Importance to Analyze Mutations by Functional Tests Single Cell Biol. 5:2.

El-Seedy A, Pasquet MC , Shafiek H, Morsi T, Kitzis A, Ladevèze V, 2016, Cystic Fibrosis Transmembrane  Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt. Cell. Mol. Biol. 2016, 62 (13): 21-28. ISSN: 1165-158X doi: 10.14715/cmb/2016.62.13.5

Naoufal R, Legendre M, Couet D, Gilbert-Dussardier B, Kitzis A, Bilan F, Harbuz R. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability. 2016 Eur J Med Genet.   [IF : 1,466]

Alaa El Din F, Patri S, Thoreau V, Rodriguez-Ballesteros M, Hamade E, Bailly S, Gilbert-Dussardier B, Abou Merhi R, Kitzis A. Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia PLoS One. 2015 Jul 15;10(7)

Farhat R, Puissesseau G, El-Seedy A, Pasquet MC, Adolphe C, Corbani S, Megarbané A, Kitzis A, Ladeveze V. 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. Biomed Res Int. 2015; 2015:138103.

Ferru-Clément R, Fresquet F, Norez C, Métayé T, Becq F, Kitzis A, Thoreau V. Involvement of the Cdc42 Pathway in CFTR Post-Translational Turnover and in Its Plasma Membrane Stability in Airway Epithelial Cells. PLoS One. 2015 Mar 13;10(3)

Farhat R, El-Seedy A, El-Moussaoui K, Pasquet MC, Adolphe C, Bieth E, Languepin J, Sermet-Gaudelus I, Kitzis A, Ladevèze V. Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations. Biochem Cell Biol. 2015 Feb;93(1):28-37.

Zemmoura I, Vourc’h P, Paubel A, Parfait B, Cohen J, Bilan F, Kitzis A, Rousselot C, Parker F, François P, Andres CR. A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma. Neuro Oncol. 2014 Jan;16(2):250-5.

El-Seedy A, Farhat R, Pasquet MC, Kitzis A, Ladevèze V. Minigene Analysis of the c.743 + 40A > G Intronic Variant in the CFTR Gene. Health. 2014 Jun; 6 (12): 1352-60.

Harbuz R, Bilan F, Couet D, Charraud V, Kitzis A, Gilbert-Dussardier B. 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 insertion. Am J Med Genet A. 2013 Oct;161A(10):2504-11

Béna F, et al. (29 coauthors including Kitzis A). Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403.

Thauvin-Robinet C, et al. (171 coauthors including Kitzis A). CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. J Med Genet. 2013 Apr;50(4):220-7.

El-Seedy A, Pasquet MC, Bienvenu T, Bieth E, Audrezet MP, Kitzis A, Ladeveze V. Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations. J Cyst Fibros. 2013 Jul;12(4):407-10.

Legendre M, et al. (34 coauthors including Kitzis A). Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet. 2012 Nov;49(11):698-707

El-Seedy A, Girodon E, Norez C, Pajaud J, Pasquet MC, de Becdelièvre A, Bienvenu T, des Georges M, Cabet F, Lalau G, Bieth E, Blayau M, Becq F, Kitzis A, Fanen P, Ladeveze V. CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes. Hum Mutat. 2012 Nov;33(11):1557-65.

Colin E, Bonneau D, Boussion F, Guichet A, Delorme B, Triau S, Gillard P, Kitzis A, Bilan F. Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family. Prenat Diagn. 2012 Jul;32(7):692-4.

Duguépéroux I, Scotet V, Audrézet MP, Saliou AH, Collet M, Blayau M, Schmitt S, Kitzis A, Fresquet F, Müller F, Férec C. Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis. Prenat Diagn. 2012 Jan;32(1):21-8.

Bilan F, Legendre M, Charraud V, Manière B, Couet D, Gilbert-Dussardier B, Kitzis A. 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. J Mol Diagn. 2012 Jan;14(1):46-55.



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