Cystic Fibrosis Is Associated with a Defect in Apical Receptor–Mediated Endocytosis in Mouse and Human Kidney

FrancCOMBINING CEDILLAois Jouret, Alfred Bernard, Cédric Hermans, +8

Journal of the American Society of Nephrology

The Sp1 transcription factor gene (SP1) and the 1,25-dihydroxyvitamin D3 receptor gene (VDR) are colocalized on human chromosome arm 12q and rat chromosome 7

Josiane Szpirer, Claude Szpirer, M. Rivière, +5

Genomics

ChromatinTranscriptional RegulationGenetic DisorderMedicineGenetics +7

Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

Carlo Castellani, Milan Maçek, Jean‐Jacques Cassiman, +19

Journal of Cystic Fibrosis

MedicineDiagnostic TestDiagnostic CriterionDiagnosisPathology +6

PMM (PMM1), the Human Homologue ofSEC53or Yeast Phosphomannomutase, Is Localized on Chromosome 22q13

Gert Matthijs, Els Schollen, Michel Pirard, +3

Genomics

Inhibition of volume‐regulated anion channels by expression of the cystic fibrosis transmembrane conductance regulator

Rudi Vennekens, Dominique Trouet, Anne Vankeerberghen, +6

The Journal of Physiology

Towards quality assurance and harmonization of genetic testing services in the European Union

Dolores Ibarreta, R Elles, Jean‐Jacques Cassiman, +2

Nature Biotechnology

Quality AssuranceGenetic TestingEngineeringPrenatal Genetic TestingGenetics +9

Prenatal diagnosis in CDG1 families: beware of heterogeneity

Gert Matthijs, Els Schollen, Jean‐Jacques Cassiman, +3

European Journal of Human Genetics

Autoimmune DiseasePrenatal Genetic TestingMedicineGeneticsGenetic Disorder +3

Characterization of mutations located in exon 18 of the <i>CFTR</i> gene

Anne Vankeerberghen, Lin Wei, Hui Teng, +4

FEBS Letters

Morphological changes in the vas deferens and expression of the cystic fibrosis transmembrane conductance regulator (CFTR) in control, ?F508 and knock-outCFTR mice during postnatal life

Ingrid Reynaert, Bart Van der Schueren, Gis�le Degeest, +4

Molecular Reproduction and Development

Mitochondrial DNA analysis of the putative heart of Louis XVII, son of Louis XVI and Marie-Antoinette

Els Jehaes, Kaan Toprak, Ronny Decorte, +2

European Journal of Human Genetics

FrenchLouis XviBioarchaeologyMitochondrial Dna AnalysisAnatomy +3