Table of contents

Research Article

• National haemophilia B molecular genetic register. (1 September, 1992)

  R Harris
• A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model. (1 September, 1992)

  F Giannelli, S Saad, A J Montandon, D R Bentley, P M Green
• X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease. (1 September, 1992)

  A Harris, J Collins, D Vetrie, C Cole, M Bobrow
• Phenotype-genotype correlations in X linked retinitis pigmentosa. (1 September, 1992)

  J Kaplan, A Pelet, C Martin, O Delrieu, S Aymé, D Bonneau, M L Briard, A Hanauer, L Larget-Piet, P Lefrançois
• Chromosomal localisation of a pseudoautosomal growth gene(s). (1 September, 1992)

  T Ogata, C Petit, G Rappold, N Matsuo, T Matsumoto, P Goodfellow
• Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. (1 September, 1992)

  G N Wilson, C S Richards, K Katz, G S Brookshire
• The acrocallosal syndrome and Greig syndrome are not allelic disorders. (1 September, 1992)

  L A Brueton, K A Chotai, L van Herwerden, A Schinzel, R M Winter
• Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16. (1 September, 1992)

  P M Pignatelli, S E Pound, A D Carothers, A M Macnicol, P L Allan, M L Watson, A F Wright
• Mutation analysis of 184 cystic fibrosis families in Wales. (1 September, 1992)

  J Cheadle, J Myring, L al-Jader, L Meredith
• Identification of a new DMD gene deletion by ectopic transcript analysis. (1 September, 1992)

  F Rininsland, A Hahn, S Niemann-Seyde, R Slomski, F Hanefeld, J Reiss
• Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. (1 September, 1992)

  O Mäkitie
• Screening for phenylketonuria in a totalitarian state. (1 September, 1992)

  L Kalaydjieva, I Kremensky
• Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects. (1 September, 1992)

  P D Turnpenny, J C Dean, P Duffty, J A Reid, P Carter
• X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene? (1 September, 1992)

  D Vetrie, F Flinter, M Bobrow, A Harris
• Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family. (1 September, 1992)

  C Bell, C A Converse, M F Collins, L Esakowitz, K F Kelly, N E Haites
• New dysmorphic features in Rubinstein-Taybi syndrome. (1 September, 1992)

  D Kanjilal, M A Basir, R S Verma, B K Rajegowda, R Lala, A Nagaraj
• 18p- syndrome and hypopituitarism. (1 September, 1992)

  H G Artman, C A Morris, A D Stock
• Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? (1 September, 1992)

  T Revesz, S Fletcher, L I al-Gazali, P DeBuse
• Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation. (1 September, 1992)

  J P Fryns, J Delooz, H Van Den Berghe
• Beckwith-Wiedemann syndrome. (1 September, 1992)

  A M Norman, A P Read, D Donnai
• A mutation in exon 7 of the CFTR gene is common in the western part of France. (1 September, 1992)

  M P Audrezet, B Mercier, H Guillermit, C Ferec
• Williams syndrome and chromosome 18. (1 September, 1992)

  F H Menko, P J Stouthart