Alain Kitzis
Poitiers, France
Last Updated: 09/26/2026
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Found 24 publications
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.
Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
Published: April 20, 2022
Three Complex alleles associated with N1303K mutation and their molecular consequences.
Journal: Cellular and molecular biology (Noisy-le-Grand, France)
Published: March 30, 2022
A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.
Journal: European journal of human genetics : EJHG
Published: February 05, 2019
Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia.
Journal: Annals of laboratory medicine
Published: October 25, 2018
Complexity of phenotypes induced by p.Asn1303Lys-CFTR correlates with difficulty to rescue and activate this protein.
Journal: Cellular and molecular biology (Noisy-le-Grand, France)
Published: May 19, 2017
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Journal: Human mutation
Published: April 04, 2017
CFTR Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy.
Journal: Frontiers in genetics
Published: March 01, 2017
In cellulo analyses of the p.Val322Ala mutation on the CFTR protein conformation and activity.
Journal: Comptes rendus biologies
Published: January 19, 2017
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt.
Journal: Cellular and molecular biology (Noisy-le-Grand, France)
Published: December 27, 2016
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.
Journal: European journal of human genetics : EJHG
Published: December 13, 2016
Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
Journal: European journal of medical genetics
Published: February 01, 2016
Effects of BDNF polymorphism and physical activity on episodic memory in the elderly: a cross sectional study.
Journal: European review of aging and physical activity : official journal of the European Group for Research into Elderly and Physical Activity
Published: October 31, 2015
Last Updated: 09/26/2026