Table of contents

December 2012 - Volume 49 - 12

New loci

Developmental defects

  • The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
    Jean-Benoît Courcet, Laurence Faivre, Perrine Malzac, Alice Masurel-Paulet, Estelle Lopez, Patrick Callier, Laetitia Lambert, Martine Lemesle, Julien Thevenon, Nadège Gigot, Laurence Duplomb, Clémence Ragon, Nathalie Marle, Anne-Laure Mosca-Boidron, Frédéric Huet, Christophe Philippe, Anne Moncla, Christel Thauvin-Robinet
  • EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
    Christopher T Gordon, Florence Petit, Myriam Oufadem, Charles Decaestecker, Anne-Sophie Jourdain, Joris Andrieux, Valérie Malan, Jean-Luc Alessandri, Geneviève Baujat, Clarisse Baumann, Odile Boute-Benejean, Roseline Caumes, Bruno Delobel, Klaus Dieterich, Dominique Gaillard, Marie Gonzales, Didier Lacombe, Fabienne Escande, Sylvie Manouvrier-Hanu, Sandrine Marlin, Michèle Mathieu-Dramard, Sarju G. Mehta, Ingrid Simonic, Arnold Munnich, Michel Vekemans, Nicole Porchet, Loïc de Pontual, Sabine Sarnacki, Tania Attie-Bitach, Stanislas Lyonnet, Muriel Holder-Espinasse, Jeanne Amiel

Genome-wide studies

Methods

Review

Genotype-phenotype correlations

Corrections