Table of contents

Research Article

• Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. (1 September, 1997)

  K N North, N G Laing, C Wallgren-Pettersson
• The elusive Angelman syndrome critical region. (1 September, 1997)

  R J Trent, L J Sheffield, Z M Deng, W S Kim, N T Nassif, C Ryce, C G Woods, R C Michaelis, J Tarleton, A Smith
• Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome. (1 September, 1997)

  M W Partington, K Fagan, V Soubjaki, G Turner
• Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease. (1 September, 1997)

  W Masson, H Hughes, D Papworth, Y Boyd, N Horn
• Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. (1 September, 1997)

  P M Lund, N Puri, D Durham-Pierre, R A King, M H Brilliant
• Unusual traits associated with Robinow syndrome. (1 September, 1997)

  M A Sabry, E A Ismail, R L al-Naggar, N A al-Torki, S Farah, S A al-Awadi, D Obenbergerova, L Bastaki
• Cost effectiveness of DNA diagnosis for four monogenic diseases. (1 September, 1997)

  A A van der Riet, B A van Hout, F F Rutten
• Uptake of genetic testing for cancer predisposition. (1 September, 1997)

  D G Evans, E R Maher, R Macleod, D R Davies, D Craufurd
• What do we mean by genetic testing? (1 September, 1997)

  P S Harper
• Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia. (1 September, 1997)

  A Verloes, P Maquet, B Sadzot, M Vivario, A Thiry, G Franck
• A simplified assay for the arylamine N-acetyltransferase 2 polymorphism validated by phenotyping with isoniazid. (1 September, 1997)

  C A Smith, M Wadelius, A C Gough, D J Harrison, C R Wolf, A Rane
• Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. (1 September, 1997)

  D A Rhodes, R Raha-Chowdhury, T M Cox, J Trowsdale
• Autosomal recessive diseases among Palestinian Arabs. (1 September, 1997)

  J Zlotogora
• Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome. (1 September, 1997)

  R Rump, B C Hamel, A J Pinckers, P A van Dop
• A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q. (1 September, 1997)

  T Cai, D A Tagle, X Xia, P Yu, X X He, L Y Li, J H Xia
• Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly. (1 September, 1997)

  C P Chen, C C Lee, L F Chen, C Y Chuang, S W Jan, B F Chen
• Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation. (1 September, 1997)

  P Gustavsson, G Skeppner, B Johansson, T Berg, L Gordon, A Kreuger, N Dahl
• Interstitial duplication of the short arm of chromosome 2: report of a new case and review. (1 September, 1997)

  A Mégarbané, N Souraty, M Prieur, D Theophile, P Chédid, J Augé, M Vekemans
• Genotype-phenotype correlation in five cystic fibrosis patients homozygous for the 621 + 1G-->T mutation. (1 September, 1997)

  M De Braekeleer, C Allard, J P Leblanc, F Simard, G Aubin
• A new cytofluorometric approach to detect fetal cells in the maternal circulation. (1 September, 1997)

  M Hengstschläger, G Bernaschek
• Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families. (1 September, 1997)

  M Zatz, A Cerqueira, M Vainzof, M R Passos-Bueno