Table of contents

Research Article

• The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy. (1 September, 1994)

  M L Barth, A Fensom, A Harris
• Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population. (1 September, 1994)

  M L Barth, C Ward, A Harris, A Saad, A Fensom
• A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy. (1 September, 1994)

  J Zlotogora, Y Furman-Shaharabani, A Harris, M L Barth, K von Figura, V Gieselmann
• A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. (1 September, 1994)

  C S Munro, S Carter, S Bryce, M Hall, J L Rees, L Kunkeler, A Stephenson, T Strachan
• FISH detection of trisomy 21 in interphase by the simultaneous use of two differentially labelled cosmid contigs. (1 September, 1994)

  A F Davies, L Barber, M Murer-Orlando, M Bobrow, M Adinolfi
• Anticipation in Swedish families with bipolar affective disorder. (1 September, 1994)

  P O Nylander, C Engström, J Chotai, J Wahlström, R Adolfsson
• Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia. (1 September, 1994)

  D C Rubinsztein, J Leggo, S Goodburn, T J Crow, R Lofthouse, L E DeLisi, D E Barton, M A Ferguson-Smith
• Asymmetry and skin pigmentary anomalies in chromosome mosaicism. (1 September, 1994)

  C G Woods, A Bankier, J Curry, L J Sheffield, S F Slaney, K Smith, L Voullaire, D Wellesley
• Genetic epidemiology of single gene defects in Chile. (1 September, 1994)

  R Cruz-Coke, R S Moreno
• Mulvihill-Smith syndrome: case report and review. (1 September, 1994)

  O Bartsch, K D Tympner, E Schwinger, R J Gorlin
• Familial half cryptic translocation t(9;17). (1 September, 1994)

  A Köhler, J Hain, U Müller
• Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance. (1 September, 1994)

  J Hone, D Accili, L I al-Gazali, G Lestringant, T Orban, S I Taylor
• Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis. (1 September, 1994)

  T Lester, M de Alwis, P A Clark, A M Jones, F Katz, R J Levinsky, C Kinnon
• Autosomal dominant simple microphthalmos. (1 September, 1994)

  E M Vingolo, K Steindl, R Forte, L Zompatori, A Iannaccone, A Sciarra, G Del Porto, M R Pannarale
• Cleft hand/foot: clinical and developmental aspects. (1 September, 1994)

  P W Buss
• A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations. (1 September, 1994)

  B Mercier, W Lissens, G Novelli, L Kalaydjieva, M de Arce, N Kapranov, N Canki Klain, X Estivill, A Palacio, S Cashman
• Diaphragmatic herniae and translocations involving 8q22 in two patients. (1 September, 1994)

  I K Temple, J C Barber, R S James, D Burge
• An interstitial deletion of chromosome 7(q35). (1 September, 1994)

  K Fagan, C Kennedy, L Roddick, A Colley
• The Pallister-Hall syndrome. (1 September, 1994)

  A Sama, J D Mason, K P Gibbin, I D Young, M Hewitt
• Familial Pallister-Hall syndrome. (1 September, 1994)

  L G Biesecker, K Topf, J M Graham
• "CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency? (1 September, 1994)

  A Lipson, B Emanuel, P Colley, K Fagan, D A Driscoll
• Skeletal malformations and polycystic kidney disease. (1 September, 1994)

  A E Turco, B Peissel, S Rossetti, P F Pignatti, E M Padovani, G P Chiaffoni