Cytidine Deaminase Residual Activity in Serum Is a Predictive Marker of Early Severe Toxicities in Adults After Gemcitabine-Based Chemotherapies

Joseph Ciccolini, Laëtitia Dahan, Nicolás André, +13

Journal of Clinical Oncology

Cda DeficiencyGemcitabine-based ChemotherapiesPathologyPharmacotherapyToxicology +14

Pregnane × Receptor (PXR) expression in colorectal cancer cells restricts irinotecan chemosensitivity through enhanced SN-38 glucuronidation

Caroline Raynal, Jean‐Marc Pascussi, Géraldine Leguelinel, +10

Molecular Cancer

<i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants

Mireille Claustres, C. Thèze, Marie des Georges, +22

Human Mutation

GeneticsDatabasesGenetic EpidemiologyPathologyDisease Gene Identification +20

Clinical relevance of nine transcriptional molecular markers for the diagnosis of head and neck squamous cell carcinoma in tissue and saliva rinse

Benjamin Lallemant, Alexandre Evrard, Christophe Combescure, +10

BMC Cancer

Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis

Kevin W Southern, Carlo Castellani, Elise Lammertyn, +39

Journal of Cystic Fibrosis

Reference gene selection for head and neck squamous cell carcinoma gene expression studies

Benjamin Lallemant, Alexandre Evrard, Christophe Combescure, +10

BMC Molecular Biology

Toxic death case in a patient undergoing gemcitabine-based chemotherapy in relation with cytidine deaminase downregulation

Cédric Mercier, Caroline Raynal, Laëtitia Dahan, +12

Pharmacogenetics and Genomics

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

Anne Bergougnoux, Karine Delétang, A. Pommier, +12

Journal of Cystic Fibrosis

Mendelian DisorderGenetic DisorderGeneticsPathologyPhenotypic Spectrum +9

The expanded French compassionate programme for elexacaftor–tezacaftor–ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study

Pierre‐Régis Burgel, Isabelle Sermet‐Gaudelus, Emmanuelle Girodon, +102

The Lancet Respiratory Medicine

F508del Cftr VariantTranslational ResearchPulmonary FibrosisMedicineFrench Compassionate Programme

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus

Anne Girardet, Victoria Viart, Stéphanie Plaza, +15

European Journal of Human Genetics

Genetic TestingFertilityGeneticsReproductive HealthDiagnosis +20