Table of contents

Research Article

• The human genome project and medical genetics. (1 January, 1992)

  P S Harper
• Charcot-Marie-Tooth disease type 1. (1 January, 1992)

  S Malcolm
• Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. (1 January, 1992)

  P Raeymaekers, V Timmerman, E Nelis, W Van Hul, P De Jonghe, J J Martin, C Van Broeckhoven
• Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. (1 January, 1992)

  J C MacMillan, M Upadhyaya, P S Harper
• A TaqI map of the dystrophin gene useful for deletion and carrier status analysis. (1 January, 1992)

  A P Walker, N G Laing, T Yamada, D C Chandler, B A Kakulas, R J Bartlett
• UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders. (1 January, 1992)

  H V Firth, R H Lindenbaum
• Effects of genetic screening on perceptions of health: a pilot study. (1 January, 1992)

  T M Marteau, M van Duijn, I Ellis
• What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation. (1 January, 1992)

  N Kalsheker, K Hayes, S Weidinger, A Graham
• The cyclops and the mermaid: an epidemiological study of two types of rare malformation. (1 January, 1992)

  B Källén, E E Castilla, P A Lancaster, O Mutchinick, L B Knudsen, M L Martínez-Frías, P Mastroiacovo, E Robert
• Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. (1 January, 1992)

  L D van Osch, A P Oranje, F M Keukens, P C van Voorst Vader, E Veldman
• Familial Scheuermann disease: a genetic and linkage study. (1 January, 1992)

  L McKenzie, D Sillence
• Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes. (1 January, 1992)

  J H DiLiberti
• Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations. (1 January, 1992)

  M Sharland, N R Bleach, P D Goberdhan, M A Patton
• Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. (1 January, 1992)

  R Tupler, L Bortotto, E M Bühler, M Alkan, N J Malik, N Bösch-Al Jadooa, L Memo, P Maraschio
• Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis. (1 January, 1992)

  G M Pastores, V V Michels, D J Schaid, D J Driscoll, R H Feldt, S N Thibodeau
• Schwartz-Jampel syndrome (chondrodystrophic myotonia). (1 January, 1992)

  D Viljoen, P Beighton
• Unbalanced 13;18 translocation and Williams syndrome. (1 January, 1992)

  A Colley, Y Thakker, H Ward, D Donnai
• Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies. (1 January, 1992)

  R S Verma, R A Conte, J H Pitter, S Luke
• Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? (1 January, 1992)

  S Lyonnet, G Schwartz, G Gatin, Y de Prost, A Munnich, M Le Merrer
• Genes for intelligence on the X chromosome. (1 January, 1992)

  N E Morton
• Another human homologue for the mouse mutant disorganisation. (1 January, 1992)

  R C Hennekam