Table of contents

Research Article

• Osteogenesis imperfecta: translation of mutation to phenotype. (1 July, 1991)

  P H Byers, G A Wallis, M C Willing
• Von Hippel-Lindau disease: a genetic study. (1 July, 1991)

  E R Maher, L Iselius, J R Yates, M Littler, C Benjamin, R Harris, J Sampson, A Williams, M A Ferguson-Smith, N Morton
• Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers. (1 July, 1991)

  J C Mulley, A K Gedeon, S J White, E A Haan, R I Richards
• Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. (1 July, 1991)

  A F Wright, S S Bhattacharya, M A Aldred, M Jay, A D Carothers, N S Thomas, A C Bird, B Jay, H J Evans
• Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV. (1 July, 1991)

  A J Richards, J C Lloyd, P N Ward, A De Paepe, P Narcisi, F M Pope
• A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. (1 July, 1991)

  L B Giebel, M A Musarella, R A Spritz
• Sister chromatid exchange evaluation as an aid to the diagnosis and exclusion of Fanconi's anaemia by induced chromosome damage analysis. (1 July, 1991)

  R T Howell
• Application of D'Arcy Thompson's coordinate transformation approach to clinical genetics photographs using image processing techniques. (1 July, 1991)

  J H DiLiberti
• A rare heteromorphism of chromosome 20 and reproductive loss. (1 July, 1991)

  D R Romain, S Whyte, D F Callen, H J Eyre
• Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation. (1 July, 1991)

  I R Walpole, M T Mulcahy
• Genochondromatosis. (1 July, 1991)

  M Le Merrer, P Fressinger, P Maroteaux
• Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology? (1 July, 1991)

  Y Gillerot, L Van Maldergem, R Chef, L Koulischer
• Familial occurrence of tumours of the choroid plexus. (1 July, 1991)

  C P Zwetsloot, J M Kros, H D Paz y Gueze
• Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome. (1 July, 1991)

  M M Lai, J D Spencer, J A Montandon, A C Berry
• Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype. (1 July, 1991)

  T Tønnesen, H N Gregersen, F Güttler
• Parental mosaicism in de novo translocation (21q21q) Down's syndrome. (1 July, 1991)

  G Croci, F Franchi
• Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata. (1 July, 1991)

  L J Sheffield, J L Halliday, F Jensen