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

ανά Bienvenu, Thierry, Lopez, Maureen, Girodon, Emmanuelle
Τόπος έκδοσης Genes (Basel) (2020)

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

ανά Bergougnoux, Anne, Lopez, Maureen, Girodon, Emmanuelle
Τόπος έκδοσης Int J Neonatal Screen (2020)

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

ανά Nathan, Nadia, Girodon, Emmanuelle, Clement, Annick, Corvol, Harriet
Τόπος έκδοσης BMJ Case Rep (2012)

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

ανά Berwouts, Sarah, Girodon, Emmanuelle, Schwarz, Martin, Stuhrmann, Manfred, Morris, Michael A, Dequeker, Elisabeth
Έκδοση 2012

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

ανά Costa, Catherine, Costa, Jean-Marc, Martin, Josiane, Boissier, Brigitte, Goossens, Michel, Girodon, Emmanuelle
Τόπος έκδοσης Clin Chem (2008)

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

ανά 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
Έκδοση 2010

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

ανά 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
Τόπος έκδοσης Clin Case Rep (2017)

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

ανά 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
Έκδοση 2010

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

ανά 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
Έκδοση 2011

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

ανά 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
Έκδοση 2009

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons

ανά 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
Τόπος έκδοσης ERJ Open Res (2018)