Table of contents

Original articles

• LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome (3 June, 2010)

  Caroline Gaudy-Marqueste, Patrice Roll, Vera Esteves-Vieira, Pierre-Jean Weiller, Jean Jacques Grob, Pierre Cau, Nicolas Lévy, Annachiara De Sandre-Giovannoli
• Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human (30 November, 2009)

  Sascha Tierling, Nicole Y Souren, Jasmin Gries, Christina LoPorto, Marco Groth, Pavlo Lutsik, Heidemarie Neitzel, Isabelle Utz-Billing, Gabriele Gillessen-Kaesbach, Heribert Kentenich, Georg Griesinger, Karl Sperling, Eberhard Schwinger, Jörn Walter
• Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech (3 June, 2010) Free

  C Bonnet, J Andrieux, M Béri-Dexheimer, B Leheup, O Boute, S Manouvrier, B Delobel, H Copin, A Receveur, M Mathieu, G Thiriez, C Le Caignec, A David, M C de Blois, V Malan, A Philippe, V Cormier-Daire, L Colleaux, E Flori, H Dollfus, V Pelletier, C Thauvin-Robinet, A Masurel-Paulet, L Faivre, M Tardieu, N Bahi-Buisson, P Callier, F Mugneret, P Edery, P Jonveaux, D Sanlaville
• Investigation of the Birt–Hogg–Dubé tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer

  (3 June, 2010)

  Michael S Nahorski, Derek H K Lim, Lynn Martin, Johan J P Gille, Kirsten McKay, Pauline K Rehal, H Martijn Ploeger, Maurice van Steensel, Ian P Tomlinson, Farida Latif, Fred H Menko, Eamonn R Maher
• Genetic variant in the promoter of connective tissue growth factor gene confers susceptibility to nephropathy in type 1 diabetes (3 June, 2010)

  Bing Wang, Rickey E Carter, Miran A Jaffa, Sashidhar Nakerakanti, Daniel Lackland, Maria Lopes-Virella, Maria Trojanowska, Louis M Luttrell, Ayad A Jaffa, The DCCT/EDIC Study Group
• The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements

  (3 June, 2010)

  Pascaline Gaildrat, Sophie Krieger, Jean-Christophe Théry, Audrey Killian, Antoine Rousselin, Pascaline Berthet, Thierry Frébourg, Agnès Hardouin, Alexandra Martins, Mario Tosi
• Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome (3 June, 2010)

  Christel Depienne, Oriane Trouillard, Isabelle Gourfinkel-An, Cécile Saint-Martin, Delphine Bouteiller, Denis Graber, Marie-Anne Barthez-Carpentier, Agnès Gautier, Nathalie Villeneuve, Charlotte Dravet, Marie-Odile Livet, Clothilde Rivier-Ringenbach, Claude Adam, Sophie Dupont, Stéphanie Baulac, Delphine Héron, Rima Nabbout, Eric LeGuern
• Novel CENPJ mutation causes Seckel syndrome (3 June, 2010)

  Mohammed S Al-Dosari, Ranad Shaheen, Dilek Colak, Fowzan S Alkuraya