Two mismatch repair gene mutations found in a colon cancer patient – which one is pathogenic? Reetta KariolaRobyn OtwayMinna Nyström-Lahti Original Investigation Pages: 105 - 109
Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin Paul N. BairdJamie E. CraigDavid A. Mackey Original Investigation Pages: 110 - 116
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type Qing WangGilles MontmainAlain Puisieux Original Investigation Pages: 117 - 123
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family Giulio PilusoMassimo CarellaVincenzo Nigro Original Investigation Pages: 124 - 130
Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations Céline AguilellaChristèle DubourgVéronique David Original Investigation Pages: 131 - 134
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype Valérie BiancalanaOlivier CaronJean-Louis Mandel Original Investigation Pages: 135 - 142
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 TaslerováStanislav KozubekMichal Kozubek Original Investigation Pages: 143 - 155
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family Arjan P. de BrouwerRonald J. PenningsHannie Kremer Original Investigation Pages: 156 - 163
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 YagiYasuhiro TakeshimaMasafumi Matsuo Original Investigation Pages: 164 - 170
Methylenetetrahydrofolate reductase gene C677T polymorphism, homocysteine, vitamin B12, and DNA damage in coronary artery disease Maria AndreassiNicoletta BottoAldo Clerico Original Investigation Pages: 171 - 177
Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1) Bárbara MeléndezSandra Rodríguez-PeralesJavier Benítez Original Investigation Pages: 178 - 185
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis Ana Campos-XavierJorge M. SaraivaValérie Cormier-Daire Original Investigation Pages: 186 - 189
Mutational analysis in longest known survivor of mucopolysaccharidosis type VII Stephan StorchBirgit WittensteinThomas Braulke Original Investigation Pages: 190 - 194
Maternal aging and chromosomal abnormalities: new data drawn from in vitro unfertilized human oocytes Franck PellestorBrigitte AndréoJacques Demaille Original Investigation Pages: 195 - 203
Maternal serum cell-free fetal DNA levels are increased in cases of trisomy 13 but not trisomy 18 Tuangsit WataganaraErik S. LeShaneDiana W. Bianchi Original Investigation Pages: 204 - 208
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P Hal M. HoffmanSimon G. GregoryRichard D. Kolodner Original Investigation Pages: 209 - 216
Several interacting genes influence the malignant hyperthermia phenotype Rachel RobinsonPhilip HopkinsMarie-Anne Shaw Short Report Pages: 217 - 218