Table of contents

Research Article

• Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. (1 September, 1993)

  N Tommerup
• Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups. (1 September, 1993)

  L V Nicholson, M A Johnson, K M Bushby, D Gardner-Medwin, A Curtis, I B Ginjaar, J T den Dunnen, J L Welch, T J Butler, E Bakker
• Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients. (1 September, 1993)

  L V Nicholson, M A Johnson, K M Bushby, D Gardner-Medwin, A Curtis, I B Ginjaar, J T den Dunnen, J L Welch, T J Butler, E Bakker
• Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis. (1 September, 1993)

  L V Nicholson, M A Johnson, K M Bushby, D Gardner-Medwin, A Curtis, I B Ginjaar, J T den Dunnen, J L Welch, T J Butler, E Bakker
• Epidermal mosaicism and Blaschko's lines. (1 September, 1993)

  C Moss, S Larkins, M Stacey, A Blight, P A Farndon, E V Davison
• Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. (1 September, 1993)

  W P Robinson, J Wagstaff, F Bernasconi, C Baccichetti, L Artifoni, E Franzoni, L Suslak, L Y Shih, H Aviv, A A Schinzel
• Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. (1 September, 1993)

  B B de Vries, J P Fryns, M G Butler, F Canziani, E Wesby-van Swaay, J O van Hemel, B A Oostra, D J Halley, M F Niermeijer
• Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalities. (1 September, 1993)

  P A Clarkson, H R Davies, D M Williams, R Chaudhary, I A Hughes, M N Patterson
• Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies. (1 September, 1993)

  G M Vintiner, K K Lo, S E Holder, R M Winter, S Malcolm
• Nager acrofacial dysostosis. (1 September, 1993)

  M T McDonald, J L Gorski
• Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis. (1 September, 1993)

  D Jenkins, K Martin, I D Young
• Prenatal diagnosis of a hypermethylated full fragile X mutation in chorionic villi of a male fetus. (1 September, 1993)

  K Suzumori, M Yamauchi, N Seki, I Kondo, T Hori
• Congenital heart malformation in Yunis-Varón syndrome. (1 September, 1993)

  L C Adès, L L Morris, M Richardson, C Pearson, E A Haan
• Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome? (1 September, 1993)

  A Seres-Santamaria, J L Arimany, F Muñiz
• Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H. (1 September, 1993)

  T Bienvenu, C Beldjord, M Adjiman, J C Kaplan
• Limb/pelvis/uterus-hypoplasia/aplasia syndrome. (1 September, 1993)

  A S Teebi
• Molecular characterisation of beta thalassaemia heterozygotes in Brazil. (1 September, 1993)

  C S Martins, A S Ramalho, M F Sonati, M S Gonçalves, F F Costa
• Autozygosity mapping, complex consanguinity, and autosomal recessive disorders. (1 September, 1993)

  R F Mueller, D T Bishop