1. Two mismatch repair gene mutations found in a colon cancer patient – which one is pathogenic?

   • Reetta Kariola
   • Robyn Otway
   • Minna Nyström-Lahti

   Original Investigation Pages: 105 - 109

2. Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin

   • Paul N. Baird
   • Jamie E. Craig
   • David A. Mackey

   Original Investigation Pages: 110 - 116

3. Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type

   • Qing Wang
   • Gilles Montmain
   • Alain Puisieux

   Original Investigation Pages: 117 - 123

4. Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family

   • Giulio Piluso
   • Massimo Carella
   • Vincenzo Nigro

   Original Investigation Pages: 124 - 130

5. Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations

   • Céline Aguilella
   • Christèle Dubourg
   • Véronique David

   Original Investigation Pages: 131 - 134

6. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype

   • Valérie Biancalana
   • Olivier Caron
   • Jean-Louis Mandel

   Original Investigation Pages: 135 - 142

7. Arrangement of chromosome 11 and 22 territories, EWSR1 and FLI1 genes, and other genetic elements of these chromosomes in human lymphocytes and Ewing sarcoma cells

   • Renata Taslerová
   • Stanislav Kozubek
   • Michal Kozubek

   Original Investigation Pages: 143 - 155

8. Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

   • Arjan P. de Brouwer
   • Ronald J. Pennings
   • Hannie Kremer

   Original Investigation Pages: 156 - 163

9. Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy

   • Mariko Yagi
   • Yasuhiro Takeshima
   • Masafumi Matsuo

   Original Investigation Pages: 164 - 170

10. Methylenetetrahydrofolate reductase gene C677T polymorphism, homocysteine, vitamin B12, and DNA damage in coronary artery disease

    • Maria Andreassi
    • Nicoletta Botto
    • Aldo Clerico

    Original Investigation Pages: 171 - 177

11. Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1)

    • Bárbara Meléndez
    • Sandra Rodríguez-Perales
    • Javier Benítez

    Original Investigation Pages: 178 - 185

12. Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis

    • Ana Campos-Xavier
    • Jorge M. Saraiva
    • Valérie Cormier-Daire

    Original Investigation Pages: 186 - 189

13. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII

    • Stephan Storch
    • Birgit Wittenstein
    • Thomas Braulke

    Original Investigation Pages: 190 - 194

14. Maternal aging and chromosomal abnormalities: new data drawn from in vitro unfertilized human oocytes

    • Franck Pellestor
    • Brigitte Andréo
    • Jacques Demaille

    Original Investigation Pages: 195 - 203

15. Maternal serum cell-free fetal DNA levels are increased in cases of trisomy 13 but not trisomy 18

    • Tuangsit Wataganara
    • Erik S. LeShane
    • Diana W. Bianchi

    Original Investigation Pages: 204 - 208

16. Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P

    • Hal M. Hoffman
    • Simon G. Gregory
    • Richard D. Kolodner

    Original Investigation Pages: 209 - 216

17. Several interacting genes influence the malignant hyperthermia phenotype

    • Rachel Robinson
    • Philip Hopkins
    • Marie-Anne Shaw

    Short Report Pages: 217 - 218