Table of contents

Original article

• Admixture mapping of ankle–arm index: identification of a candidate locus associated with peripheral arterial disease (7 July, 2009)

  M L Scherer, M A Nalls, L Pawlikowska, E Ziv, G Mitchell, S Huntsman, D Hu, K Sutton-Tyrrell, E G Lakatta, W-C Hsueh, A B Newman, A Tandon, L Kim, P-Y Kwok, A Sung, R Li, B Psaty, A P Reiner, T Harris
• Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

  (1 July, 2009)

  D Doherty, M A Parisi, L S Finn, M Gunay-Aygun, M Al-Mateen, D Bates, C Clericuzio, H Demir, M Dorschner, A J van Essen, W A Gahl, M Gentile, N T Gorden, A Hikida, D Knutzen, H Özyurek, I Phelps, P Rosenthal, A Verloes, H Weigand, P F Chance, W B Dobyns, I A Glass
• MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

  (9 July, 2009)

  N Le Meur, M Holder-Espinasse, S Jaillard, A Goldenberg, S Joriot, P Amati-Bonneau, A Guichet, M Barth, A Charollais, H Journel, S Auvin, C Boucher, J-P Kerckaert, V David, S Manouvrier-Hanu, P Saugier-Veber, T Frébourg, C Dubourg, J Andrieux, D Bonneau
• Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

  (1 July, 2009)

  H Vega, A H Trainer, M Gordillo, M Crosier, H Kayserili, F Skovby, M L Giovannucci Uzielli, R E Schnur, S Manouvrier, E Blair, J A Hurst, F Forzano, M Meins, K O J Simola, A Raas-Rothschild, R C M Hennekam, E Wang Jabs
• Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands (16 July, 2009)

  S S Cathey, J G Leroy, T Wood, K Eaves, R J Simensen, M Kudo, R E Stevenson, M J Friez