Table of contents

Research Article

• Severe manifestations in carrier females in X linked retinitis pigmentosa. (1 October, 1997)

  E Souied, B Segues, I Ghazi, J M Rozet, S Chatelin, S Gerber, I Perrault, A Michel-Awad, M L Briard, G Plessis, J L Dufier, A Munnich, J Kaplan
• Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. (1 October, 1997)

  A K Ryan, J A Goodship, D I Wilson, N Philip, A Levy, H Seidel, S Schuffenhauer, H Oechsler, B Belohradsky, M Prieur, A Aurias, F L Raymond, J Clayton-Smith, E Hatchwell, C McKeown, F A Beemer, B Dallapiccola, G Novelli, J A Hurst, J Ignatius, A J Green, R M Winter, L Brueton, K Brøndum-Nielsen, P J Scambler
• The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol. (1 October, 1997)

  A J van Essen, A L Kneppers, A H van der Hout, H Scheffer, I B Ginjaar, L P ten Kate, G J van Ommen, C H Buys, E Bakker
• A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism. (1 October, 1997)

  J Zlotogora, J Dagan, A Ganen, M Abu-Libdeh, Z Ben-Neriah, T Cohen
• Characterisation of a satellited non-fluorescent Y chromosome (Y[nfqs]) by FISH. (1 October, 1997)

  R S Verma, S K Gogineni, S M Kleyman, R A Conte
• Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. (1 October, 1997)

  A Slavotinek, L Gaunt, D Donnai
• Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina. (1 October, 1997)

  D M Iglesias, R S Martín, A Fraga, M Virginillo, A R Kornblihtt, E Arrizurieta, M Viribay, J L San Millán, M Herrera, V Bernath
• Evaluation of a project to enhance knowledge of hereditary diseases and management. (1 October, 1997)

  I R Walpole, C Watson, D Moore, J Goldblatt, C Bower
• Wolfram (DIDMOAD) syndrome. (1 October, 1997)

  T G Barrett, S E Bundey
• Marshall-Smith syndrome: the expanding phenotype. (1 October, 1997)

  D K Williams, D R Carlton, S H Green, K Pearman, T R Cole
• Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. (1 October, 1997)

  D E McFadden, J T Pantzar, M I Van Allen, S Langlois
• Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome? (1 October, 1997)

  K H Orstavik, P Strømme, J Ek, A Torvik, O H Skjeldal
• Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome). (1 October, 1997)

  A A Morris, J S Sequeira, M Malone, S F Slaney, P T Clayton
• Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia. (1 October, 1997)

  A Castriota-Scanderbeg, R Mingarelli, G Caramia, P Osimani, R S Lachman, D L Rimoin, W R Wilcox, B Dallapiccola
• The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3. (1 October, 1997)

  A Slavotinek, E Maher, P Gregory, P Rowlandson, S M Huson
• Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions. (1 October, 1997)

  A Slavotinek, H Kingston
• Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter. (1 October, 1997)

  N M Savage, N A Maclachlan, C A Joyce, I E Moore, J A Crolla
• Persistence of Mediterranean anaemia in Sicily. (1 October, 1997)

  M A Romeo, F Di Gregorio, G Russo
• Instability of normal (CTG)n alleles in the DM kinase gene. (1 October, 1997)

  D J Dow, D C Rubinsztein, J R Yates, D E Barton, M A Ferguson-Smith
• Mutation in the 3' region of the alpha-1-antitrypsin gene and chronic obstructive pulmonary disease. (1 October, 1997)

  A J Sandford, J J Spinelli, T D Weir, P D Paré
• Gaucher disease plus. (1 October, 1997)

  E Sidransky, E I Ginns
• Molecular characterisation of cystic fibrosis patients in the state of São Paulo (Brazil) (1 October, 1997)

  E A Parizotto, C S Bertuzzo