Estelle Escudier

Affiliations: 
UPMC Univ Paris 6, France 
Area:
, Nasal obstruction, Neurovegetative nasal dysfunction, Primary ciliary dyskinesia, Leber congenital amaurosis, Acoustic rhinometry, Nasal compliance
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"Estelle Escudier"
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Publications

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Thomas L, Cuisset L, Papon JF, et al. (2024) Skewed X-chromosome inactivation drives the proportion of -defective airway motile cilia and variable expressivity in primary ciliary dyskinesia. Journal of Medical Genetics
Alexandru M, de Boissieu P, Benoudiba F, et al. (2022) Otological Manifestations in Adults with Primary Ciliary Dyskinesia: A Controlled Radio-Clinical Study. Journal of Clinical Medicine. 11
Legendre M, Thouvenin G, Taytard J, et al. (2022) High Nasal Nitric Oxide, Cilia Analyses and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia. Annals of the American Thoracic Society
Mabrouk I, Al-Harthi N, Mani R, et al. (2022) Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients. Journal of Human Genetics
Shoemark A, Rubbo B, Legendre M, et al. (2021) Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia. The European Respiratory Journal
Bequignon E, Mangin D, Bécaud J, et al. (2020) Pathogenesis of chronic rhinosinusitis with nasal polyps: role of IL-6 in airway epithelial cell dysfunction. Journal of Translational Medicine. 18: 136
Goutaki M, Papon JF, Boon M, et al. (2020) Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD. Erj Open Research. 6
Thomas L, Bouhouche K, Whitfield M, et al. (2020) TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. American Journal of Human Genetics
Blanchon S, Legendre M, Bottier M, et al. (2019) Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. Journal of Medical Genetics
Bequignon E, Dupuy L, Escabasse V, et al. (2019) Follow-Up and Management of Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia: Review and Experience of Our Reference Centers. Journal of Clinical Medicine. 8
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