Using positional cloning strategies, we have identified a CTG triplet repeat that undergoes
expansion in myotonic dystrophy patients. This sequence is highly variable in the normal …

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
widespread development of distinctive tumors termed hamartomas. TSC-determining loci …

The signal transducer and activator of transcription, STAT5b, has been implicated in signal
transduction pathways for a number of cytokines and growth factors, including growth …

The molecular analysis of a specific CAG repeat sequence in the Huntington's disease
gene in 440 Huntington's disease patients and 360 normal controls reveals a range of 30–70 …

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by the
development of hamartomatous growths in many organs. Sixty to seventy percent of cases are …

We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide
resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations …

Huntington's disease (HD) is an inherited autosomal dominant neurodegenerative disorder
caused by an expansion of a CAG trinucleotide repeat in the huntingtin (HTT) gene […

Lactation, hair development and homeothermy are characteristic evolutionary features that
define mammals from other vertebrate species. Here we describe the discovery of two …

Hyperekplexia (MIM: 149400) is a neurological disorder characterized by an excessive
startle response which can be caused by mutations in the α 1 -subunit (GLRA1) of the …

The mammary gland is a prolific lipogenic organ, synthesising copious amounts of triglycerides
for secretion into milk. The fat content of milk varies widely both between and within …