Knowledge of the genetic demography of Quebec is useful for gene mapping, diagnosis,
treatment, community genetics and public health. The French‐Canadian population of …

In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that
LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass …

Background The chromodomain helicase DNA binding domain (CHD) proteins modulate
gene expression via their ability to remodel chromatin structure and influence histone …

We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the
human genome to help with the characterization of genes altered by gross chromosomal …

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the …

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly
158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a …

Galloway–Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by
the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain …

Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in∼
40% of patients. We hypothesized that unexplained IS cases represent a large collection of …

Autosomal dominant osteogenesis imperfecta (OI) is caused by mutations in the genes
(COL1A1 or COL1A2) encoding the chains of type I collagen. Recently, dysregulation of …

Autosomal recessive cutis laxa type 2 (ARCL2), a syndrome of growth and developmental
delay and redundant, inelastic skin, is caused by mutations in the a2 subunit of the vesicular …