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

Por Bienvenu, Thierry, Lopez, Maureen, Girodon, Emmanuelle
Publicado no Genes (Basel) (2020)

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

Por Bergougnoux, Anne, Lopez, Maureen, Girodon, Emmanuelle
Publicado no Int J Neonatal Screen (2020)

A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl

Por Nathan, Nadia, Girodon, Emmanuelle, Clement, Annick, Corvol, Harriet
Publicado no BMJ Case Rep (2012)

Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data

Por Berwouts, Sarah, Girodon, Emmanuelle, Schwarz, Martin, Stuhrmann, Manfred, Morris, Michael A, Dequeker, Elisabeth
Publicado em 2012

Multiplex allele-specific fluorescent PCR for haplotyping the IVS8 (TG)m(T)n locus in the CFTR gene

Por Costa, Catherine, Costa, Jean-Marc, Martin, Josiane, Boissier, Brigitte, Goossens, Michel, Girodon, Emmanuelle
Publicado no Clin Chem (2008)

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

Por de Becdelièvre, Alix, Costa, Catherine, LeFloch, Annick, Legendre, Marie, Jouannic, Jean-Marie, Vigneron, Jacqueline, Bresson, Jean-Luc, Gobin, Stéphanie, Martin, Josiane, Goossens, Michel, Girodon, Emmanuelle
Publicado em 2010

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 no Clin Case Rep (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 em 2010

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

Por René, Céline, Paulet, Damien, Girodon, Emmanuelle, Costa, Catherine, Lalau, Guy, Leclerc, Julie, Cabet-Bey, Faïza, Bienvenu, Thierry, Blayau, Martine, Iron, Albert, Mittre, Hervé, Feldmann, Delphine, Guittard, Caroline, Claustres, Mireille, Georges, Marie des
Publicado em 2011

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Por Dequeker, Els, Stuhrmann, Manfred, Morris, Michael A, Casals, Teresa, Castellani, Carlo, Claustres, Mireille, Cuppens, Harry, des Georges, Marie, Ferec, Claude, Macek, Milan, Pignatti, Pier-Franco, Scheffer, Hans, Schwartz, Marianne, Witt, Michal, Schwarz, Martin, Girodon, Emmanuelle
Publicado em 2009

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 no ERJ Open Res (2018)