Publications by authors named "Alain Kitzis"

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Three Complex alleles associated with N1303K mutation and their molecular consequences.
Raëd Farhat, Ayman El-Seedy, Marie-Claude Pasquet, Sandra Corbani, André Megarbané, Alain Kitzis

Cell Mol Biol (Noisy-le-grand)· April 2022

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A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.
Gara Samara Brajadenta, Frédéric Bilan, Brigitte Gilbert-Dussardier, Alain Kitzis, Vincent Thoreau

Eur J Hum Genet· November 2019

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Identification of a Novel CHD7 Mutation in a Syndrome Patient in Indonesia.
Gara Samara Brajadenta, Agustini Utari, Sylvie Patri, Frédéric Bilan, Sultana Muhammad Hussein Faradz, Alain Kitzis

Ann Lab Med· September 2019

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CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.
Marine Legendre, Montserrat Rodriguez-Ballesteros, Massimiliano Rossi, Véronique Abadie, Jeanne Amiel, Alain Kitzis

Eur J Hum Genet· February 2018

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Complexity of phenotypes induced by p.Asn1303Lys-CFTR correlates with difficulty to rescue and activate this protein.
Raëd Farhat, Ayman El-Seedy, Caroline Norez, Hugo Talbot, Marie-Claude Pasquet, Alain Kitzis

Cell Mol Biol (Noisy-le-grand)· November 2017

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CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Mireille Claustres, Corinne Thèze, Marie des Georges, David Baux, Emmanuelle Girodon, Alain Kitzis

Hum Mutat· October 2017

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In cellulo analyses of the p.Val322Ala mutation on the CFTR protein conformation and activity.
Raëd Farhat, Ayman El-Seedy, Ariestya Indah Permata Sari, Caroline Norez, Marie-Claude Pasquet, Alain Kitzis

C R Biol· August 2017

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Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy.
Ayman S El-Seedy, Hanaa Shafiek, Alain Kitzis, Véronique Ladevèze

Front Genet· March 2017

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Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
Rania Naoufal, Marine Legendre, Dominique Couet, Brigitte Gilbert-Dussardier, Alain Kitzis

Eur J Med Genet· September 2016

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Involvement of the Cdc42 pathway in CFTR post-translational turnover and in its plasma membrane stability in airway epithelial cells.
Romain Ferru-Clément, Fleur Fresquet, Caroline Norez, Thierry Métayé, Frédéric Becq, Alain Kitzis

PLoS One· May 2016

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Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.
Ferdos Alaa El Din, Sylvie Patri, Vincent Thoreau, Montserrat Rodriguez-Ballesteros, Eva Hamade, Alain Kitzis

PLoS One· May 2016

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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.
Raëd Farhat, Géraldine Puissesseau, Ayman El-Seedy, Marie-Claude Pasquet, Catherine Adolphe, Alain Kitzis

Biomed Res Int· April 2016

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Effects of BDNF polymorphism and physical activity on episodic memory in the elderly: a cross sectional study.
Anne Canivet, Cédric T Albinet, Nathalie André, Jean Pylouster, Montserrat Rodríguez-Ballesteros, Alain Kitzis

Eur Rev Aging Phys Act· February 2016

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Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
Capucine Hyon, Sandra Chantot-Bastaraud, Radu Harbuz, Rakia Bhouri, Nicolas Perrot, Alain Kitzis

Am J Med Genet A· August 2015

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Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations.
Raed Farhat, Ayman El-Seedy, Kamal El-Moussaoui, Marie-Claude Pasquet, Catherine Adolphe, Alain Kitzis

Biochem Cell Biol· February 2015

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A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.
Ilyess Zemmoura, Patrick Vourc'h, Agathe Paubel, Béatrice Parfait, Joëlle Cohen, Alain Kitzis

Neuro Oncol· January 2014

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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.
Radu Harbuz, Frédéric Bilan, Dominique Couet, Valérie Charraud, Alain Kitzis

Am J Med Genet A· October 2013

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Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations.
Ayman El-Seedy, Marie-Claude Pasquet, Thiery Bienvenu, Eric Bieth, Marie-Pierre Audrezet, Alain Kitzis

J Cyst Fibros· July 2013

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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Frédérique Béna, Damien L Bruno, Mats Eriksson, Conny van Ravenswaaij-Arts, Zornitza Stark, Alain Kitzis

Am J Med Genet B Neuropsychiatr Genet· June 2013

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CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.
Ayman El-Seedy, Emmanuelle Girodon, Caroline Norez, Julie Pajaud, Marie-Claude Pasquet, Alain Kitzis

Hum Mutat· November 2012

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Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
Marine Legendre, Marie Gonzales, Géraldine Goudefroye, Frédéric Bilan, Pauline Parisot, Alain Kitzis

J Med Genet· November 2012

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Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.
Estelle Colin, Dominique Bonneau, Francoise Boussion, Agnès Guichet, Benoit Delorme, Alain Kitzis

Prenat Diagn· July 2012

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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.
Frédéric Bilan, Marine Legendre, Valérie Charraud, Barbara Manière, Dominique Couet, Alain Kitzis

J Mol Diagn· January 2012

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Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis.
Ingrid Duguépéroux, Virginie Scotet, Marie-Pierre Audrézet, Anne-Hélène Saliou, Michel Collet, Alain Kitzis

Prenat Diagn· January 2012

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Orphan missense mutations in the cystic fibrosis transmembrane conductance regulator: A three-step biological approach to establishing a correlation between genotype and phenotype.
Fleur Fresquet, Romain Clement, Caroline Norez, Adélaïde Sterlin, Patricia Melin, Alain Kitzis

J Mol Diagn· September 2011

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