Marie-pierre P. Reboul
Bordeaux, 33076, France
Last Updated: 09/26/2026
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Found 8 publications
Exposure to CFTR Modulators During Pregnancy in Cystic Fibrosis: Four Cases to Highlight Neonatal Diagnostic Challenges and Outcomes.
Journal: International journal of neonatal screening
Published: July 21, 2025
CFTR gene variant screening in gamete donation candidates in France: Which indications? How to screen? Why?
Journal: Gynecologie, obstetrique, fertilite & senologie
Published: March 27, 2024
AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: September 22, 2022
Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: August 28, 2022
Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.
Journal: Andrology
Published: August 12, 2019
CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma.
Journal: The British journal of dermatology
Published: July 17, 2019
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
The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible.
Journal: Clinical case reports
Published: March 07, 2016
Showing 1-8 of 8
Last Updated: 09/26/2026