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Publications by Solange Pannetier

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

American Journal of Human Genetics

English

Activation of RSK by UV-light: Phosphorylation Dynamics and Involvement of the MAPK Pathway

Cancer Research

Molecular Biology

English

Related publications

Unreported RSK2 Missense Mutation in Two Male Sibs With an Unusually Mild Form of Coffin-Lowry Syndrome

Journal of Medical Genetics

English

Síndrome De Coffin-Lowry

Universitas Médica

English

X-Linked Coffin-Lowry Syndrome (CLS, MIM 303600, RPS6KA3 Gene, Protein Product Known Under Various Names: Pp90rsk2, RSK2, ISPK, MAPKAP1)

European Journal of Human Genetics

English

Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome

English

Extensive Natural Epigenetic Variation at a De Novo Originated Gene

Molecular Biology

Cancer Research

English

Clinical Features and Outcome of 6 New Patients Carrying De Novo KCNB1 Gene Mutations

Neurology: Genetics

English

Phenotypic Heterogeneity in British Patients With a Founder Mutation in the FHL1 Gene

European Journal of Human Genetics

English

De Novo Mutations in the Gene Encoding the Synaptic Scaffolding proteinSHANK3in Patients Ascertained for Schizophrenia

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Enhanced Accumulation of Hyaluronate in the Culture of Skin Fibroblasts From Two Patients With Coffin-Lowry Syndrome.

Tohoku Journal of Experimental Medicine

Molecular Biology

English