Table of contents

Research Article

• Recurrence risks in mental retardation. (1 March, 1998)

  Y J Crow, J L Tolmie
• Counselling issues in familial hypertrophic cardiomyopathy. (1 March, 1998)

  B Yu, J A French, R W Jeremy, P French, D R McTaggart, M R Nicholson, C Semsarian, D R Richmond, R J Trent
• How the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy. (1 March, 1998)

  S Eggers, M Zatz
• Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families. (1 March, 1998)

  R Robinson, J L Curran, W J Hall, P J Halsall, P M Hopkins, A F Markham, A D Stewart, S P West, F R Ellis
• Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425. (1 March, 1998)

  M Mustapha, S T Azar, Y B Moglabey, M Saouda, G Zeitoun, J Loiselet, R Slim
• Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene. (1 March, 1998)

  B Yu, J A French, L Carrier, R W Jeremy, D R McTaggart, M R Nicholson, B Hambly, C Semsarian, D R Richmond, K Schwartz, R J Trent
• PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. (1 March, 1998)

  P Guicheney, N Vignier, X Zhang, Y He, C Cruaud, V Frey, A Helbling-Leclerc, P Richard, B Estournet, L Merlini, H Topaloglu, M Mora, J P Harpey, C A Haenggeli, A Barois, B Hainque, K Schwartz, F M Tomé, M Fardeau, K Tryggvason
• Evidence of linkage of the inflammatory bowel disease susceptibility locus on chromosome 16 (IBD1) to ulcerative colitis. (1 March, 1998)

  M M Mirza, J Lee, D Teare, J P Hugot, P Laurent-Puig, J F Colombel, S V Hodgson, G Thomas, D F Easton, J E Lennard-Jones, C G Mathew
• Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation. (1 March, 1998)

  A F Brady, P P Pandya, B Yuksel, A Greenough, M A Patton, K H Nicolaides
• A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. (1 March, 1998)

  S R Ghaffari, E Boyd, J L Tolmie, Y J Crow, A H Trainer, J M Connor
• A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome. (1 March, 1998)

  C M Ogilvie, F L Raymond, R H Harrison, P N Scriven, Z Docherty
• Costello syndrome. (1 March, 1998)

  N Philip, S Sigaudy
• Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity. (1 March, 1998)

  M C Vincent, C Guiraud-Chaumeil, J Laporte, S Manouvrier-Hanu, J L Mandel
• Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. (1 March, 1998)

  J Frank, H Lam, E Zaider, M Poh-Fitzpatrick, A M Christiano
• Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. (1 March, 1998)

  M L Carey, T B Friedman, J H Asher, J W Innis
• The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease. (1 March, 1998)

  F Meggouh, A Benomar, H Rouger, S Tardieu, N Birouk, J Tassin, C Barhoumi, M Yahyaoui, T Chkili, A Brice, E LeGuern
• Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy. (1 March, 1998)

  J C Moolman-Smook, B Mayosi, P Brink, V A Corfield
• Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation. (1 March, 1998)

  H Onishi, T Hanihara, N Sugiyama, C Kawanishi, E Iseki, Y Maruyama, Y Yamada, K Kosaka, S Yagishita, H Sekihara, S Satoh
• Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations. (1 March, 1998)

  R L Albin
• Is meconium ileus genetically determined or associated with a more severe evolution of cystic fibrosis? (1 March, 1998)

  M De Braekeleer, C Allard, J P Leblanc, G Aubin, F Simard
• UK centres are not following the Royal College of Pathologists' recommendations for storage of Guthrie cards: a national policy is needed. (1 March, 1998)

  S Rahman, A Emery, J Poulton
• Cyclopia and sirenomelia in a liveborn infant. (1 March, 1998)

  M L Martínez-Frías, A García, E Bermejo