Table of contents

Research Article

• Genetic deafness. (1 August, 1992)

  W Reardon
• Hereditary haemorrhagic telangiectasia: a clinical analysis. (1 August, 1992)

  M E Porteous, J Burn, S J Proctor
• Genetic transmission of colorectal cancer: exploratory data analysis from a population based registry. (1 August, 1992)

  M Ponz de Leon, C Scapoli, G Zanghieri, R Sassatelli, C Sacchetti, I Barrai
• Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s). (1 August, 1992)

  T Ogata, N Matsuo
• Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies. (1 August, 1992)

  V Petrovic, S Nasioulas, C W Chow, L Voullaire, M Schmidt, H Dahl
• Molecular diagnosis of Turner's syndrome. (1 August, 1992)

  C Gicquel, S Cabrol, H Schneid, F Girard, Y Le Bouc
• Genetic mapping of X linked ocular albinism: linkage analysis in British families. (1 August, 1992)

  S J Charles, A T Moore, J R Yates
• Racial distribution of Duchenne muscular dystrophy in the West Midlands region of Britain. (1 August, 1992)

  A Roddie, S Bundey
• Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. (1 August, 1992)

  P Gasparini, G Borgo, G Mastella, A Bonizzato, M Dognini, P F Pignatti
• Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles. (1 August, 1992)

  E C Landels, P M Green, I H Ellis, A H Fensom, M Bobrow
• Linkage of epidermolysis bullosa simplex to keratin gene loci. (1 August, 1992)

  K E McKenna, A E Hughes, E A Bingham, N C Nevin
• The use of DNA from paraffin wax preserved tissue for predictive diagnosis in familial adenomatous polyposis. (1 August, 1992)

  D G Morton, F Macdonald, M B Cachon-Gonzales, P M Rindl, J P Neoptolemos, M R Keighley, J D Delhanty, C M McKeown, M Kilpatrick, M A Hultén
• Rapid detection of the highly polymorphic beta globin framework by denaturing gradient gel electrophoresis. (1 August, 1992)

  M Losekoot, H van Heeren, J J Schipper, P C Giordano, L F Bernini, R Fodde
• Investigation of a female manifesting Becker muscular dystrophy. (1 August, 1992)

  I A Glass, L V Nicholson, E Watkiss, M A Johnson, R G Roberts, S Abbs, S Brittain-Jones, H G Boddie
• Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy. (1 August, 1992)

  C R Greenberg, H K Jacobs, T E Nylen, M Gibb, B N Chodirker, M Moffatt, A Lacson, W Halliday, F Bernier, A el-Husseini
• Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism. (1 August, 1992)

  M M Lai, P N Scriven, C Ball, A C Berry
• Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome. (1 August, 1992)

  J R Ward, C Saad de Owens, I A Sierra
• Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency. (1 August, 1992)

  P Labrune, R Assathiany, D Penso, M Odièvre
• Parental origin of extra chromosomes in persons with X chromosome tetrasomy. (1 August, 1992)

  D David, R A Marques, M H Carreiro, I Moreira, M G Boavida
• Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. (1 August, 1992)

  J Cheadle, L al-Jader, M Goodchild, A L Meredith
• A clinical and genetic database for management of familial adenomatous polyposis. (1 August, 1992)

  I Fenton, J Sampson
• High proportion of twins in carriers of fragile X syndrome. (1 August, 1992)

  E F Tizzano, M Baiget