Table of contents

Research Article

• Hereditary motor and sensory neuropathies. (1 January, 1991)

  J M Vance
• An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes. (1 January, 1991)

  C Cooper, J A Crolla, C Laister, D I Johnston, P Cooke
• Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review. (1 January, 1991)

  K D MacDermot, R M Winter, J S Wigglesworth, S Strobel
• Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'. (1 January, 1991)

  K D MacDermot, R M Winter, D Taylor, M Baraitser
• Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. (1 January, 1991)

  P D Turnpenny, R J Thwaites, F N Boulos
• Association of less common cystic fibrosis mutations with a mild phenotype. (1 January, 1991)

  A Curtis, R Nelson, M Porteous, J Burn, S S Bhattacharya
• Two distinct mutations at a single BamHI site in phenylketonuria. (1 January, 1991)

  D Melle, P Verelst, F Rey, M Berthelon, B François, A Munnich, S Lyonnet
• The sex ratios of probands and of secondary cases in conditions of multifactorial inheritance where liability varies with sex. (1 January, 1991)

  W H James
• Aarskog syndrome. (1 January, 1991)

  M E Porteous, D R Goudie
• Growth hormone deficiency in a girl with the Cohen syndrome. (1 January, 1991)

  G Massa, L Dooms, M Vanderschueren-Lodeweyckx
• Spondylocostal dysplasia and neural tube defects. (1 January, 1991)

  G P Giacoia, B Say
• Balanced t(6;8)(6p8p;6q8q) and the CHARGE association. (1 January, 1991)

  J A Hurst, P Meinecke, M Baraitser
• Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies. (1 January, 1991)

  C Braegger, A Bottani, F Hallé, A Giedion, E Leumann, R Seger, U Willi, A Schinzel
• A familial case of chromosome 16p variant. (1 January, 1991)

  G Croci, L Camurri, F Franchi
• A familial X;autosome translocation associated with Becker type muscular dystrophy? (1 January, 1991)

  N Tommerup
• Facial measurements in the newborn. (1 January, 1991)

  K Méhes