Table of contents

Original articles

• Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

  (31 July, 2005) Free

  K M Davey, J S Parboosingh, D R McLeod, A Chan, R Casey, P Ferreira, F F Snyder, P J Bridge, F P Bernier
• Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes (14 October, 2005)

  S Tezenas du Montcel, F Clot, M Vidailhet, E Roze, P Damier, C P Jedynak, A Camuzat, A Lagueny, L Vercueil, D Doummar, L Guyant-Maréchal, J-L Houeto, G Ponsot, S Thobois, M-A Cournelle, A Durr, F Durif, B Echenne, D Hannequin, C Tranchant, A Brice
• Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

  (27 January, 2006)

  B Kerr, M-A Delrue, S Sigaudy, R Perveen, M Marche, I Burgelin, M Stef, B Tang, O B Eden, J O’Sullivan, A De Sandre-Giovannoli, W Reardon, C Brewer, C Bennett, O Quarell, E M’Cann, D Donnai, F Stewart, R Hennekam, H Cavé, A Verloes, N Philip, D Lacombe, N Levy, B Arveiler, G Black
• The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene (9 September, 2005)

  K P Hoornaert, C Dewinter, I Vereecke, F A Beemer, W Courtens, A Fryer, H Fryssira, M Lees, A Müllner-Eidenböck, D L Rimoin, L Siderius, A Superti-Furga, K Temple, P J Willems, A Zankl, C Zweier, A De Paepe, P Coucke, G R Mortier
• The distribution of apolipoprotein E alleles in Scottish perinatal deaths (23 September, 2005)

  J-C Becher, J W Keeling, N McIntosh, B Wyatt, J Bell
• Mutations of the RET gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locus

  (27 January, 2006)

  L de Pontual, A Pelet, D Trochet, F Jaubert, Y Espinosa-Parrilla, A Munnich, J-F Brunet, C Goridis, J Feingold, S Lyonnet, J Amiel
• Cancer risks in first degree relatives of BRCA1 mutation carriers: effects of mutation and proband disease status

  (14 October, 2005)

  J Gronwald, T Huzarski, B Byrski, K Medrek, J Menkiszak, A N Monteiro, P Sun, J Lubinski, S A Narod