Table of contents

Research Article

• Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W. (1 February, 1997)

  G Antiñolo, S Borrego, M Gili, J Dapena, I Alfageme, F Reina
• Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. (1 February, 1997)

  P L Beales, A M Warner, G A Hitman, R Thakker, F A Flinter
• Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. (1 February, 1997)

  I S Naom, M D'Alessandro, H Topaloglu, C Sewry, A Ferlini, A Helbling-Leclerc, P Guicheney, J Weissenbach, K Schwartz, K Bushby, J Philpot, V Dubowitz, F Muntoni
• Fucosidosis: genetic and biochemical analysis of eight cases. (1 February, 1997)

  H Cragg, M Williamson, E Young, J O'Brien, J Alhadeff, S Fang-Kircher, E Paschke, B Winchester
• Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394. (1 February, 1997)

  I N Day, L Haddad, S D O'Dell, L B Day, R A Whittall, S E Humphries
• Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. (1 February, 1997)

  M Votruba, A T Moore, S S Bhattacharya
• Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. (1 February, 1997)

  M C Rosatelli, A Meloni, V Faa, L Saba, G Crisponi, M G Clemente, G Meloni, M T Piga, A Cao
• Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. (1 February, 1997)

  E Gausden, B Coyle, J A Armour, R Coffey, A Grossman, G R Fraser, R M Winter, M E Pembrey, P Kendall-Taylor, D Stephens, L M Luxon, P D Phelps, W Reardon, R Trembath
• Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families. (1 February, 1997)

  T J Keen, A G Morris, C F Inglehearn
• Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis. (1 February, 1997)

  L C Wilson, M E Oude Luttikhuis, M Baraitser, H M Kingston, R C Trembath
• Germline and somatic mosaicism in a female carrier of Hunter disease. (1 February, 1997)

  R Froissart, I Maire, V Bonnet, T Levade, D Bozon
• The role and practice of the genetic nurse: report of the AGNC Working Party. (1 February, 1997)

  H Skirton, C Barnes, G Curtis, J Walford-Moore
• Haemochromatosis: a gene at last? (1 February, 1997)

  K J Robson, J D Shearman, A T Merryweather-Clarke, J J Pointon, W M Rosenberg, A P Walker, J S Dooley, A Bomford, R Raha-Chowdhury, M Worwood
• Alagille syndrome. (1 February, 1997)

  I D Krantz, D A Piccoli, N B Spinner
• Androgen insensitivity with mental retardation: a contiguous gene syndrome? (1 February, 1997)

  H R Davies, I A Hughes, M O Savage, C A Quigley, M Trifiro, L Pinsky, T R Brown, M N Patterson
• Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito. (1 February, 1997)

  L S Correa-Cerro, H Rivera, A I Vasquez
• Familial complex chromosome rearrangement ascertained by in situ hybridisation. (1 February, 1997)

  C Fuster, L Miguez, R Miró, M A Rigola, A Perez, J Egozcue
• Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes. (1 February, 1997)

  M L Whiteford, A Narendra, M P White, A Cooke, A G Wilkinson, K J Robertson, J L Tolmie
• Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. (1 February, 1997)

  A Pandya, X Xia, J Radnaabazar, J Batsuuri, B Dangaansuren, N Fischel-Ghodsian, W E Nance
• Parents' responses to predictive genetic testing in their children. (1 February, 1997)

  A Clarke
• D409H/D409H genotype in Gaucher-like disease. (1 February, 1997)

  E Uyama, M Uchino, H Ida, Y Eto, M Owada