Table of contents

Research Article

• Localisation of a gene causing endocrine neoplasia to a 4 cM region on chromosome 1p35-p36. (1 August, 1997)

  C Williamson, A A Pannett, J T Pang, C Wooding, M McCarthy, M N Sheppard, J Monson, R N Clayton, R V Thakker
• RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. (1 August, 1997)

  S Kohl, M Christ-Adler, E Apfelstedt-Sylla, U Kellner, A Eckstein, E Zrenner, B Wissinger
• The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing. (1 August, 1997)

  C B Kunst, E P Leeflang, J C Iber, N Arnheim, S T Warren
• Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. (1 August, 1997)

  W Reardon, D Wilkes, P Rutland, L J Pulleyn, S Malcolm, J C Dean, R D Evans, B M Jones, R Hayward, C M Hall, N C Nevin, M Baraister, R M Winter
• Developmental enamel defects in tuberous sclerosis: a clinical genetic marker? (1 August, 1997)

  N Flanagan, W J O'Connor, B McCartan, S Miller, J McMenamin, R Watson
• Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients. (1 August, 1997)

  K F Doheny, H E McDermid, K Harum, G H Thomas, G V Raymond
• De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes. (1 August, 1997)

  J E Allanson, R C Hennekam, M Ireland
• Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families. (1 August, 1997)

  H L Gilbert, J L Buxton, C T Chan, T McKay, S Cottrell, S Ramsden, R M Winter, M E Pembrey, S Malcolm
• Waardenburg syndrome. (1 August, 1997)

  A P Read, V E Newton
• Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder. (1 August, 1997)

  D R FitzPatrick, L Strain, A E Thomas, D G Barr, A Todd, N M Smith, W G Scobie
• Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. (1 August, 1997)

  N Okamoto, Y Wada, M Goto
• Assessment of French patients with LPL deficiency for French Canadian mutations. (1 August, 1997)

  L Foubert, J L De Gennes, J P Lagarde, E Ehrenborg, A Raisonnier, J P Girardet, M R Hayden, P Benlian
• "Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting? (1 August, 1997)

  R Happle, G Barbi, D Eckert, I Kennerknecht
• Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects. (1 August, 1997)

  F L Raymond, J M Simpson, C M Mackie, G K Sharland
• Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. (1 August, 1997)

  A Golla, P Lichmer, S von Gernet, A Winterpacht, J Fairley, J Murken, S Schuffenhauer
• Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1. (1 August, 1997)

  K A Brown, L I al-Gazali, L M Moynihan, N J Lench, A F Markham, R F Mueller
• Monozygotic twins discordant for Aicardi syndrome. (1 August, 1997)

  T Costa, W Greer, G Rysiecki, J R Buncic, P N Ray
• Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12. (1 August, 1997)

  A Schinzel, C P Braegger, L Brecevic, F Dutly, F Binkert
• Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH. (1 August, 1997)

  P Stankiewicz, E Kostyk, E Bocian, H Stańczak, J Parczewska, E Piatkowska, T Mazurczak, J J Pietrzyk
• Juvenile onset Huntington's disease in an Omani child with asymptomatic, at risk parents. (1 August, 1997)

  E M Scrimgeour, R L Koul, P R Chand, J K Tharakan, C A Frew
• Mirror hands and feet. (1 August, 1997)

  M A van Steensel
• A study of brothers with Klinefelter syndrome. (1 August, 1997)

  C G Woods, J Noble, A R Falconer