Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges

por Bienvenu, Thierry, Lopez, Maureen, Girodon, Emmanuelle
Publicado 2020

The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

por Bergougnoux, Anne, Lopez, Maureen, Girodon, Emmanuelle
Publicado 2020

Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation

por Pacault, Mathilde, Verebi, Camille, Champion, Magali, Orhant, Lucie, Perrier, Alexandre, Girodon, Emmanuelle, Leturcq, France, Vidaud, Dominique, Férec, Claude, Bienvenu, Thierry, Daveau, Romain, Nectoux, Juliette
Publicado 2023

The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible

por Hinzpeter, Alexandre, Reboul, Marie‐Pierre, Callebaut, Isabelle, Zordan, Cécile, Costes, Bruno, Guichoux, Julie, Iron, Albert, Lacombe, Didier, Martin, Natacha, Arveiler, Benoit, Fanen, Pascale, Fergelot, Patricia, Girodon, Emmanuelle
Publicado 2017

Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier

por Hinzpeter, Alexandre, Aissat, Abdel, Sondo, Elvira, Costa, Catherine, Arous, Nicole, Gameiro, Christine, Martin, Natacha, Tarze, Agathe, Weiss, Laurence, de Becdelièvre, Alix, Costes, Bruno, Goossens, Michel, Galietta, Luis J., Girodon, Emmanuelle, Fanen, Pascale
Publicado 2010

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons

por Pranke, Iwona, Bidou, Laure, Martin, Natacha, Blanchet, Sandra, Hatton, Aurélie, Karri, Sabrina, Cornu, David, Costes, Bruno, Chevalier, Benoit, Tondelier, Danielle, Girodon, Emmanuelle, Coupet, Matthieu, Edelman, Aleksander, Fanen, Pascale, Namy, Olivier, Sermet-Gaudelus, Isabelle, Hinzpeter, Alexandre
Publicado 2018