Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC

Catherine Gallou, Dominique Joly, A. M�jean, +10

Human Mutation

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions

Catherine Gallou, Dominique Chauveau, Dominique Joly, +12

Human Mutation

Vhl GeneUrologyRenal FunctionGenitourinary CancerMedicine +12

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

Alexandre Hinzpeter, Abdel Aissat, Elvira Sondo, +12

PLoS Genetics

Nagnag Acceptor SiteGeneticsRna SplicingGenomic MechanismMolecular Biology +16

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons

Iwona Pranke, Laure Bidou, Natacha Martin, +14

ERJ Open Research

Premature Termination CodonsMolecular PhysiologyBiochemistryPharmacologyTherapeutic Efficacy +8

Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma

Catherine Gallou, Sandrine Longuemaux, Claudine Deloménie, +10

Pharmacogenetics

<i>Cis</i>variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules

Nesrine Baatallah, Sara Bitam, Natacha Martin, +14

Human Mutation

GeneticsMolecular BiologyPathologyIncreased Exon SkippingMolecular Genetics +17

Combined Computational-Experimental Analyses of<i>CFTR</i>Exon Strength Uncover Predictability of Exon-Skipping Level

Abdel Aissat, Alix de Becdelièvre, Lisa Golmard, +9

Human Mutation

Exon-skipping LevelExon SkippingEngineeringMedicineGenetics +13

Alternative Splicing of In-Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies

Alexandre Hinzpeter, Abdel Aissat, Alix de Becdelièvre, +9

Human Mutation