R. Montjean

发表

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome

D. Grunwald, J. Rendu, A. Petiot, 2017, Human mutation.

REG-O3 chimeric peptide combining growth hormone and somatostatin sequences improves joint function and prevents cartilage degradation in rat model of traumatic knee osteoarthritis

Y. Henrotin, C. Vêtu, R. Montjean, 2020, PloS one.

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.

R. Salomon, P. Billuart, J. Rendu, 2015, Human molecular genetics.

Supplementary information Ptchd 1 deficiency induces exciatory synaptic and cognitive dysfunctions in mouse

J. Vincent, Y. Hérault, H. Meziane, 2017 .

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

J. Vincent, Y. Hérault, H. Meziane, 2017, Molecular Psychiatry.

Iodide transporter NIS regulates cancer cell motility and invasiveness by interacting with the Rho guanine nucleotide exchange factor LARG.

D. Samuel, C. Bréchot, D. Cassio, 2012, Cancer research.

Inversin/Nephrocystin-2 Is Required for Fibroblast Polarity and Directional Cell Migration

K. Kristiansen, J. Goodship, S. Saunier, 2013, PloS one.

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

G. Mollet, O. Gribouval, C. Antignac, 2011, The New England journal of medicine.

Inversin/Nephrocystin-2 Is Required for Fibroblast Polarity and Directional Cell Migration

K. Kristiansen, J. Goodship, S. Saunier, 2013, PloS one.