Table of contents

Letters to JMG

• Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)

  (5 September, 2003)

  C Bovie, S T Holden, A Schroer, E Smith, D Trump, F L Raymond
• Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3 (5 September, 2003)

  S Brickwood, D T Bonthron, L I Al-Gazali, K Piper, T Hearn, D I Wilson, N A Hanley
• Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations (5 September, 2003)

  J J Luciani, P de Mas, D Depetris, C Mignon-Ravix, A Bottani, M Prieur, P Jonveaux, A Philippe, G Bourrouillou, B de Martinville, B Delobel, L Vallee, M-F Croquette, M-G Mattei
• Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema

  (5 September, 2003)

  A L Evans, R Bell, G Brice, P Comeglio, C Lipede, S Jeffery, P Mortimer, M Sarfarazi, A H Child
• Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

  (5 September, 2003)

  A Sarkozy, E Conti, D Seripa, M C Digilio, N Grifone, C Tandoi, V M Fazio, V Di Ciommo, B Marino, A Pizzuti, B Dallapiccola
• A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

  (5 September, 2003)

  S Yzer, L I van den Born, J Schuil, H Y Kroes, M M van Genderen, F N Boonstra, B van den Helm, H G Brunner, R K Koenekoop, F P M Cremers
• Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung’s disease

  (5 September, 2003)

  M Sancandi, P Griseri, B Pesce, G Patrone, F Puppo, M Lerone, G Martucciello, G Romeo, R Ravazzolo, M Devoto, I Ceccherini
• Non-random transmission of mutant alleles to female offspring of BRCA1 carriers in Poland

  (5 September, 2003)

  J Gronwald, B Gorski, T Byrski, T Huzarski, A Jakubowska, J Menkiszak, S A Narod, J Lubinski