Table of contents

June 2012 - Volume 49 - 6

New disease loci

Cancer genetics

Copy-number variation

Developmental defects

Genome-wide studies

Chromosomal rearrangements

  • Original article: Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability
    Julien Thevenon, Estelle Lopez, Boris Keren, Delphine Heron, Cyril Mignot, Cecilia Altuzarra, Mylène Béri-Dexheimer, Céline Bonnet, Eloi Magnin, Lydie Burglen, Delphine Minot, Jacqueline Vigneron, Sophie Morle, Mathieu Anheim, Perrine Charles, Alexis Brice, Louise Gallagher, Jeanne Amiel, Emmanuel Haffen, Corinne Mach, Christel Depienne, Diane Doummar, Marlène Bonnet, Laurence Duplomb, Virginie Carmignac, Patrick Callier, Nathalie Marle, Anne-Laure Mosca-Boidron, Virginie Roze, Bernard Aral, Ferechte Razavi, Philippe Jonveaux, Laurence Faivre, Christel Thauvin-Robinet

Genotype-phenotype correlations