Table of contents

Research Article

• Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis. (1 March, 1996)

  E Hatchwell
• Hypopigmented skin alterations resembling tuberous sclerosis in normal skin. (1 March, 1996)

  R Norio, T Oksanen, J Rantanen
• Ascertainment of familial ovarian cancer in the Aberdeen Genetic Clinic. (1 March, 1996)

  H Gregory, A Schofield, D de Silva, J Semper, B Milner, L Allan, N Haites
• Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. (1 March, 1996)

  W G Cole, T P Lam
• Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study. (1 March, 1996)

  E Reid, N Morrison, L Barron, E Boyd, A Cooke, D Fielding, J L Tolmie
• Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates. (1 March, 1996)

  L I Al-Gazali, M Varghese, E Varady, J Al Talabani, J Scorer, D Bakalinova
• Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile. (1 March, 1996)

  E Hoodfar, A S Teebi
• X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp. (1 March, 1996)

  E Hatchwell, D Robinson, J A Crolla, A E Cockwell
• Frequency of myotonic dystrophy gene carriers in cataract patients. (1 March, 1996)

  A M Cobo, J J Poza, A Blanco, A López de Munain, A Saénz, M Azpitarte, J Marchessi, J F Martí Massó
• Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome. (1 March, 1996)

  K Devriendt, L D'Espallier, J P Fryns
• Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al. (1 March, 1996)

  C Perandones, R I Cerretini, R M Vargas Vera, E I Aranda, L G Alba, O H Pivetta
• Odontomicronychial ectodermal dysplasia. (1 March, 1996)

  M Pinheiro, A L Snel, N Freire-Maia
• A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. (1 March, 1996)

  U Felbor, H Stöhr, T Amann, U Schönherr, E Apfelstedt-Sylla, B H Weber
• Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter-->Xq13. (1 March, 1996)

  S M Jalal, R Dahl, L Erickson, D Zimmerman, N Lindor
• A new deletion of 18q23 with few typical features of the 18q- syndrome. (1 March, 1996)

  M Kohonen-Corish, G Strathdee, J Overhauser, T McDonald, V Jammu
• Presymptomatic diagnosis in Portuguese FAP families using intragenic RFLPs and (CA)n flanking markers by fluorescence based semiautomated DNA analysis. (1 March, 1996)

  R Almeida, P Fidalgo, E Ramalho, A Brás, N Leitão, C Mira, J Rueff, C Monteiro
• Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus. (1 March, 1996)

  M Jouet, L Strain, D Bonthron, S Kenwrick
• Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy. (1 March, 1996)

  S Regis, M Filocamo, M Stroppiano, F Corsolini, R Gatti
• Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus. (1 March, 1996)

  A W Thomas, A Edwards, E J Sherratt, A Majid, J Gagg, J C Alcolado
• Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? (1 March, 1996)

  J N Berg, A E Guttmacher, D A Marchuk, M E Porteous
• Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic origins. (1 March, 1996)

  M Lacour, H R Middleton-Price, J I Harper
• Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. (1 March, 1996)

  E Hatchwell
• Large inv dup(15) chromosome in two generations. (1 March, 1996)

  J J Van Der Smagt, J C Giltay, J J De Ne, G H Slabbers
• Simple tests for rhodopsin involvement in retinitis pigmentosa. (1 March, 1996)

  E Tarttelin, M Al-Maghtheh, J Keen, S Bhattacharya, C Inglehearn