Table of contents

Letters to JMG

• Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

  (14 August, 2003)

  C Zweier, I K Temple, F Beemer, E Zackai, T Lerman-Sagie, B Weschke, C E Anderson, A Rauch
• Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene (14 August, 2003)

  M Herasse, M Spentchian, A Taillandier, K Keppler-Noreuil, A N M Fliorito, J Bergoffen, R Wallerstein, C Muti, B Simon-Bouy, E Mornet
• RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

  (14 August, 2003)

  I Zito, S M Downes, R J Patel, M E Cheetham, N D Ebenezer, S A Jenkins, S S Bhattacharya, A R Webster, G E Holder, A C Bird, D E Bamiou, A J Hardcastle
• Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

  (14 August, 2003)

  A Hameed, A Abid, A Aziz, M Ismail, S Q Mehdi, S Khaliq
• Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide

  (14 August, 2003)

  B Wilcken, F Bamforth, Z Li, H Zhu, A Ritvanen, M Redlund, C Stoll, Y Alembik, B Dott, A E Czeizel, Z Gelman-Kohan, G Scarano, S Bianca, G Ettore, R Tenconi, S Bellato, I Scala, O M Mutchinick, M A López, H de Walle, R Hofstra, L Joutchenko, L Kavteladze, E Bermejo, M L Martínez-Frías, M Gallagher, J D Erickson, S E Vollset, P Mastroiacovo, G Andria, L D Botto
• Small babies receive the cardiovascular protective apolipoprotein ε2 allele less frequently than expected (14 August, 2003)

  C Infante-Rivard, E Lévy, G-E Rivard, M Guiguet, J-C Feoli-Fonseca
• Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3 (14 August, 2003)

  Y J Lee, D Park, S Y Kim, W J Park
• Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss (14 August, 2003)

  F J del Castillo, M Rodríguez-Ballesteros, Y Martín, B Arellano, J Gallo-Terán, C Morales-Angulo, R Ramírez-Camacho, M Cruz Tapia, J Solanellas, A Martínez-Conde, M Villamar, M A Moreno-Pelayo, F Moreno, I del Castillo
• Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients

  (14 August, 2003)

  A Álvarez, I del Castillo, A Pera, M Villamar, M A Moreno-Pelayo, T Rivera, J Solanellas, F Moreno