Table of contents

Electronic letters

• Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? (1 May, 2003)

  H Leonard, L Colvin, J Christodoulou, T Schiavello, S Williamson, M Davis, D Ravine, S Fyfe, N de Klerk, T Matsuishi, I Kondo, A Clarke, S Hackwell, Y Yamashita
• Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene

  (1 May, 2003)

  P F J Koppens, H J M Smeets, I J de Wijs, H J Degenhart
• Cancer surveillance is often inadequate in people at high risk for colorectal cancer (1 May, 2003)

  E M Stoffel, J E Garber, S Grover, L Russo, J Johnson, S Syngal
• Experience of discharge from colonoscopy of mutation negative HNPCC family members (1 May, 2003)

  E M A Bleiker, F H Menko, B G Taal, I Kluijt, L D V Wever, M A Gerritsma, H F A Vasen, N K Aaronson
• Women’s preferences and consultants’ communication of risk in consultations about familial breast cancer: impact on patient outcomes (1 May, 2003)

  E A Lobb, P N Butow, B Meiser, A Barratt, C Gaff, M A Young, J Kirk, M Gattas, M Gleeson, K Tucker
• Evidence for linkage and association of the markers near the LPL gene with hypertension in Chinese families

  (1 May, 2003)

  W J Yang, J F Huang, C L Yao, Z J Fan, D L Ge, W Q Gan, G Y Huang, R T Hui, Y Shen, B Q Qiang, D F Gu
• Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: a study in 1279 patients undergoing coronary angiography

  (1 May, 2003)

  R Surber, H H Sigusch, H Kuehnert, H R Figulla
• Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy (1 May, 2003)

  J Mogensen, A Bahl, T Kubo, N Elanko, R Taylor, W J McKenna
• Multicolour FISH fine mapping unravels an insertion as a complex chromosomal rearrangement involving six breakpoints and a 5.89 Mb large deletion (1 May, 2003)

  J Kraus, M Cohen, M R Speicher
• Partial trisomy 10q with mild phenotype caused by an unbalanced X;10 translocation (1 May, 2003)

  T Mononen, A Sharp, M Laakso, R-L Meltoranta, A-K Valve-Dietz, K Heinonen
• Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome (1 May, 2003)

  M Meins, P Burfeind, S Motsch, R Trappe, D Bartmus, S Langer, M R Speicher, H Mühlendyck, I Bartels, B Zoll
• Death in adults with Prader-Willi syndrome may be correlated with maternal uniparental disomy (1 May, 2003)

  A Smith, G Loughnan, K Steinbeck