Solange Pannetier

A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets

Fiona Francis, Steffen Hennig, Bernd Korn et al. · Nature Genetics · 1995 · 1.1K citations

Genetic Disorder, Genetics, X–linked Hypophosphatemic Rickets +3

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

Elisabeth Trivier, Dario De Cesare, Sylvie Jacquot et al. · Nature · 1996 · 399 citations

Signal Transduction, Mendelian Disorder, Genetic Disorder +4

Mitogen-Regulated RSK2-CBP Interaction Controls Their Kinase and Acetylase Activities

Karine Mérienne, Solange Pannetier, Annick Harel‐Bellan et al. · Molecular and Cellular Biology · 2001 · 133 citations · Full text

Histone Modifications, Chromatin, Transcriptional Regulation +15

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

Jean‐Pierre Delaunoy, Fatima Abidi, Maria Zeniou et al. · Human Mutation · 2001 · 88 citations

Mutation Analysis of the RSK2 Gene in Coffin-Lowry Patients: Extensive Allelic Heterogeneity and a High Rate of De Novo Mutations

Sylvie Jacquot, Karine Mérienne, Dario De Cesare et al. · The American Journal of Human Genetics · 1998 · 86 citations · Full text

Somatic Variant, Genetic Disorder, Medicine +10