Table of contents

Research Article

• Medical complications of achondroplasia: a multicentre patient review. (1 September, 1998)

  A G Hunter, A Bankier, J G Rogers, D Sillence, C I Scott
• Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. (1 September, 1998)

  M B Delatycki, D Paris, R J Gardner, K Forshaw, G A Nicholson, N Nassif, R Williamson, S M Forrest
• Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6. (1 September, 1998)

  M F Broom, C Zhou, J E Broom, K J Barwell, R D Jolly, D F Hill
• Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements. (1 September, 1998)

  S W Horsley, S J Knight, J Nixon, S Huson, M Fitchett, R A Boone, D Hilton-Jones, J Flint, L Kearney
• Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis. (1 September, 1998)

  E Margarit, A Soler, A Carrió, R Oliva, D Costa, T Vendrell, J Rosell, F Ballesta
• Family history of breast cancer: what do women understand and recall about their genetic risk? (1 September, 1998)

  M Watson, V Duvivier, M Wade Walsh, S Ashley, J Davidson, M Papaikonomou, V Murday, N Sacks, R Eeles
• Men in breast cancer families: a preliminary qualitative study of awareness and experience. (1 September, 1998)

  M F McAllister, D G Evans, W Ormiston, P Daly
• Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup. (1 September, 1998)

  A C DudokdeWit, A Tibben, H J Duivenvoorden, M F Niermeijer, J Passchier
• Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome. (1 September, 1998)

  A Mégarbané, K Kharrat, G Kreichati
• Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome? (1 September, 1998)

  A S Teebi, S Miller, H Ostrer, P Eydoux, C Colomb-Brockmann, K Oudjhane, G Watters
• Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome. (1 September, 1998)

  N Flanagan, S A Boyadjiev, J Harper, L Kyne, M Earley, R Watson, E W Jabs, M T Geraghty
• Baller-Gerold syndrome associated with congenital portal venous malformation. (1 September, 1998)

  R Savarirayan, P Tomlinson, E Thompson
• Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p. (1 September, 1998)

  A E Hughes, A J Lotery, G Silvestri
• Further refinement of the Usher 2A locus at 1q41. (1 September, 1998)

  D A Bessant, A M Payne, C Plant, A C Bird, S S Bhattacharya
• Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis. (1 September, 1998)

  A Chabás, L Gort, M Montfort, F Castelló, M C Domínguez, D Grinberg, L Vilageliu
• Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. (1 September, 1998)

  R Tupler, L Barbierato, M Memmi, C A Sewry, D De Grandis, P Maraschio, L Tiepolo, A Ferlini
• Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. (1 September, 1998)

  T Eggermann, K Eggermann, S Mergenthaler, R Kuner, P Kaiser, M B Ranke, H A Wollmann
• A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21. (1 September, 1998)

  C F Inglehearn, E E Tarttelin, T J Keen, S S Bhattacharya, A T Moore, R Taylor, A C Bird
• Frequency of inherited deletions of 22q11. (1 September, 1998)

  P W Thompson, S J Davies
• The annual incidence of DiGeorge/velocardiofacial syndrome. (1 September, 1998)

  K Devriendt, J P Fryns, G Mortier, M N van Thienen, K Keymolen
• Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland. (1 September, 1998)

  P B Munroe, N D Greene, K Y Leung, S E Mole, R M Gardiner, H M Mitchison, J B Stephenson, Y J Crow
• PTEN and prostate cancer. (1 September, 1998)

  E A Facher, J C Law
• Instability in the normal CTG repeat range at the myotonic dystrophy locus. (1 September, 1998)

  A Meiner, B Thamm, S Strenge, U Froster