Table of contents

Electronic letters

• Rapid, inexpensive scanning for all possible BRCA1 and BRCA2 gene sequence variants in a single assay: implications for genetic testing

  (1 April, 2003)

  M Bounpheng, S McGrath, D Macias, N van Orsouw, Y Suh, D Rines, J Vijg
• Germline TP53 mutations in breast cancer families with multiple primary cancers: is TP53 a modifier of BRCA1?

  (1 April, 2003)

  A-M Martin, P A Kanetsky, B Amirimani, T A Colligon, G Athanasiadis, H A Shih, M R Gerrero, K Calzone, T R Rebbeck, B L Weber
• Germline mutations in the TGF-β and Wnt signalling pathways are a rare cause of the “multiple” adenoma phenotype (1 April, 2003)

  L Lipton, O M Sieber, H J W Thomas, S V Hodgson, I P M Tomlinson, K Woodford-Richens
• Single nucleotide polymorphism (SNP) analysis of mouse pulmonary adenoma susceptibility loci 1–4 for identification of candidate genes (1 April, 2003)

  W J Lemon, C H Swinton, M Wang, N Berbari, Y Wang, M You
• Studies on the pathogenesis of Costello syndrome (1 April, 2003)

  G M S Mancini, O P van Diggelen, W J Kleijer, M Di Rocco, V Farina, M Yuksel-Apak, H Kayserili, D J J Halley
• Clinical presentation in female patients with Fabry disease (1 April, 2003)

  N Guffon
• Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling

  (1 April, 2003)

  V Cusin, O Clermont, B Gérard, D Chantereau, J Elion
• SPINK1 mutations and phenotypic expression in patients with pancreatitis associated with trypsinogen mutations

  (1 April, 2003)

  F U Weiss, P Simon, H Witt, J Mayerle, V Hlouschek, K P Zimmer, J Schnekenburger, W Domschke, J P Neoptolemos, M M Lerch
• The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy

  (1 April, 2003)

  P Y W Man, C M Morris, M Zeviani, F Carrara, D M Turnbull, P F Chinnery
• The metabotropic glutamate receptor 8 gene at 7q31: partial duplication and possible association with autism (1 April, 2003)

  F J Serajee, H Zhong, R Nabi, A H M Mahbubul Huq
• Genetic variation analysis of MLP, TFAP2A, and CSK in patients with neural tube defects

  (1 April, 2003)

  R Klootwijk, F A Hol, M Wu, J J H T Willemen, P Groenen, B Hamel, H Straatman, R P M Steegers-Theunissen, E C M Mariman, B Franke
• Genomic characterisation of C7orf10 in Silver-Russell syndrome patients

  (1 April, 2003)

  E Meyer, H A Wollmann, T Eggermann
• A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students (1 April, 2003)

  K Barlow-Stewart, L Burnett, A Proos, V Howell, F Huq, R Lazarus, H Aizenberg
• Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay (1 April, 2003)

  L G Dietz, A A Wylie, K A Rauen, S K Murphy, R L Jirtle, P D Cotter
• Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies (1 April, 2003)

  E Petek, B Plecko-Startinig, C Windpassinger, H Egger, K Wagner, P M Kroisel
• A familial unbalanced subtelomeric translocation resulting in monosomy 6q27→qter (1 April, 2003)

  J Kraus, G Lederer, C Keri, H Seidel, I Rost, A Wirtz, C Fauth, M R Speicher