Somatic mutations of the β-catenin gene are frequent in mouse and human hepatocellular carcinomas

Alix de La Coste, Béatrice Romagnolo, Pierre Billuart, +8

Proceedings of the National Academy of Sciences

A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Vincent des Portes, Jean Marc Pinard, Pierre Billuart, +11

Cell

Neurobiology Of DiseaseDevelopmental BiologyNeurogenomicsNeurological DisorderNeuroanatomy +11

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

Pierre Billuart, T Bienvenu, Nathalie Ronce, +14

Nature

Developmental BiologyMolecular NeuroscienceSignal TransductionPsychiatryGenetics +5

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Xavier H. Jaglin, Karine Poirier, Yoann Saillour, +21

Nature Genetics

BiologyNatural SciencesGeneticsMolecular BiologyAsymmetrical Polymicrogyria +3

Diversity of <i>RET</i> proto-oncogene mutations in familial and sporadic Hirschsprung disease

Tania Attié‐Bitach, Anna Pelet, Patrick Edery, +9

Human Molecular Genetics

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Nadia Bahi‐Buisson, Karine Poirier, Franck J. Fourniol, +11

Brain

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Ramzi Zemni, Thierry Bienvenu, Marie Claude Vinet, +23

Nature Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +10

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>)

Karine Poirier, David A. Keays, Fiona Francis, +20

Human Mutation

Cloning and characterization of the human V3 pituitary vasopressin receptor

Yves de Keyzer, Colette Auzan, Frédéric Lenne, +4

FEBS Letters

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

Justine Bouilly, Isabelle Beau, Sara Barraud, +11

The Journal of Clinical Endocrinology & Metabolism