Catherine Faucon
Creteil, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications
FOXJ1 transcriptional targets in human airway cells and impaired multiciliogenesis in FOXJ1-associated primary ciliary dyskinesia.
Journal: American journal of respiratory cell and molecular biology
Published: December 11, 2025
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Journal: Science (New York, N.Y.)
Published: April 25, 2024
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
Journal: Journal of medical genetics
Published: October 19, 2023
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Journal: American journal of human genetics
Published: October 11, 2019
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
Journal: Journal of medical genetics
Published: July 11, 2019
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Journal: American journal of human genetics
Published: March 03, 2019
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
Journal: American journal of human genetics
Published: March 19, 2016
Showing 1-8 of 8
Last Updated: 09/26/2026