Table of contents

Research Article

• Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. (1 June, 1996)

  M Piantanida, E Buscarini, C Dellavecchia, A Minelli, A Rossi, L Buscarini, C Danesino
• Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers. (1 June, 1996)

  A Verloes, I K Temple, A F Hubert, P Hope, S Gould, C Debauche, G Verellen, J L Deville, L Koulischer, E M Sokal
• Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. (1 June, 1996)

  G A Wallis, B Rash, B Sykes, J Bonaventure, P Maroteaux, B Zabel, R Wynne-Davies, M E Grant, R P Boot-Handford
• Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. (1 June, 1996)

  J L Keulemans, A J Reuser, M A Kroos, R Willemsen, M M Hermans, A M van den Ouweland, J G de Jong, R A Wevers, W O Renier, D Schindler, M J Coll, A Chabas, H Sakuraba, Y Suzuki, O P van Diggelen
• Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects. (1 June, 1996)

  C Kwok, C Tyler-Smith, B B Mendonca, I Hughes, G D Berkovitz, P N Goodfellow, J R Hawkins
• Unusual molecular findings in autosomal recessive spinal muscular atrophy. (1 June, 1996)

  G Matthijs, E Schollen, E Legius, K Devriendt, N Goemans, H Kayserili, M Y Apäk, J J Cassiman
• Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure. (1 June, 1996)

  G Castaldo, E Rippa, G Sebastio, V Raia, P Ercolini, G de Ritis, D Salvatore, F Salvatore
• A cross sectional study of renal involvement in tuberous sclerosis. (1 June, 1996)

  J A Cook, K Oliver, R F Mueller, J Sampson
• Family history and perceived vulnerability to some common diseases: a study of young people and their parents. (1 June, 1996)

  M Ponder, J Lee, J Green, M Richards
• A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma. (1 June, 1996)

  A Kidd, L Carson, D W Gregory, D de Silva, J Holmes, J C Dean, N Haites
• Defects in the determination of left-right asymmetry. (1 June, 1996)

  M P Splitt, J Burn, J Goodship
• Familial autosomal dominant dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset. (1 June, 1996)

  P J Morrison, R B Godwin-Austen, J A Raeburn
• Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. (1 June, 1996)

  J Ignatius, S Knuutila, S W Scherer, B Trask, J Kere
• Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. (1 June, 1996)

  R S Ramesar, J Greenberg, R Martin, R Goliath, S Bardien, S Mundlos, P Beighton
• Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23). (1 June, 1996)

  A E Cockwell, R S James, I E Moore, E Hatchwell, J A Crolla
• A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p. (1 June, 1996)

  E E Tarttelin, C Plant, J Weissenbach, A C Bird, S S Bhattacharya, C F Inglehearn
• High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. (1 June, 1996)

  L M Chuang, H P Wu, M H Jang, T R Wang, W C Sue, B J Lin, D W Cox, T Y Tai
• Association between serotonin type 2 receptor (HTR2) and bronchial asthma in humans. (1 June, 1996)

  H Q Mao, K Morimoto, T Shirakawa, J M Hopkin, T Hashimoto, J Furuyama, M Kawai, S Sasaki, T Enomoto, K Yoshikawa, T Yoshikawa
• Evidence of maternal segregation distortion in the sickle cell and beta thalassaemia traits. (1 June, 1996)

  I D Silva, A S Ramalho
• Second cousins with cystic fibrosis and no common ancestor who is a carrier. (1 June, 1996)

  L P Ten Kate