Isabelle Redonnet‐Vernhet

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Isabelle Redonnet‐Vernhet, Hans Kristian Ploos van Amstel, Ralf‐Peter Jansen et al. · Journal of Medical Genetics · 1996 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Succinate‐CoA ligase deficiency due to mutations in <i>SUCLA2</i> and <i>SUCLG1</i>: phenotype and genotype correlations in 71 patients

Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen et al. · Journal of Inherited Metabolic Disease · 2015 · 88 citations

Life Sciences, Genetics, Molecular Genetics +11

Energy Metabolism Rewiring Precedes UVB-Induced Primary Skin Tumor Formation

Mohsen Hosseini, L. Dousset, Walid Mahfouf et al. · Cell Reports · 2018 · 64 citations · Full text

Life Sciences, Cancer Biology, Oncology +17

Downregulation of Glutamine Synthetase, not glutaminolysis, is responsible for glutamine addiction in Notch1‐driven acute lymphoblastic leukemia

Tra Ly Nguyen, Marie‐Julie Nokin, Silvia Terés et al. · Molecular Oncology · 2020 · 44 citations · Full text

Medicine, Cancer Biology, Oncology +14

The impact of the control of serum phenylalanine levels on osteopenia in patients with phenylketonuria

Pascal Barat, Nicole Barthe, Isabelle Redonnet‐Vernhet et al. · European Journal of Pediatrics · 2002 · 42 citations

Medicine, Endocrinology, Bone Metabolism +8