The difficulty of identifying susceptibility genes for common diseases has polarized
geneticists' views on what disease models are appropriate and how best to proceed once�…

The Edinburgh Post-natal Depression Scale (EPDS) was validated on a community sample
of 702 women at six weeks post-partum using Research Diagnostic Criteria for depression�…

The autosomal dominant syndrome of Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
is due to germline DNA mismatch repair gene mutations in most cases. However, the�…

In cystic fibrosis (CF), mutation of the cystic fibrosis transmembrane conductance regulator
(CFTR) gene results in defective transepithelial ion transport, leading to life shortening�…

If the number of immigrants per inter-sample period, and the probabilities of survival, capture
and death on capture are all assumed constant in time, the" asymptotic" biases of the Jolly�…

We present transcriptome analyses of primary cultures of human fetal cells from pregnancies
affected with trisomy 21 (t21) and trisomy 13 (t13). Pooled mRNA samples from t21 and t13�…

Reported livebirth prevalence of Down syndrome (DS) may be affected by the maternal age
distribution of the population, completeness of ascertainment, accuracy of diagnosis, extent�…

RESULTS Trisomy 13 There were 26 live births with full trisomy 13 in the Scottish Trisomy
Register. In four cases, details were incomplete and dates of death could not be ascertained�…

We have used genealogies and genomic polymorphisms to estimate individual inbreeding
coefficients (F) in 50 subjects with an expected range (based on recent genealogies) of F�…

Microsatellite instability (MSI) occurs in most tumours from patients with hereditary non-
polyposis colorectal cancer (HNPCC) and in around 17% of sporadic colorectal cancers�…