Background: Huntington’s disease is caused by expansion of a polyglutamine tract found in the amino-terminal of the ubiquitously expressed protein huntingtin. Well studied in its mutant form, ...

Canadian consensus for the assessment and testing of Lynch syndrome ...

1 Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA 2 Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA 3 Department of ...

Correspondence to Dr Xiao-Jie Lu, Department of General Surgery, Liver Transplantation Center, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China; 189{at}whu.edu.cn ...

Department of Obstetrics and Gynecology, College of Medicine, University of Iowa Hospitals and Clinics, Iowa City 52242-1080, USA. The association of choroid plexus cysts with fetal aneuploidy, ...

2 Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Background Brain arteriovenous malformations (BAVM) represent a congenital anomaly of the cerebral vessels with a ...

1 Meakins-Christie Laboratories and Department of Medicine, McGill Centre for Bioinformatics, McGill University, Montreal, Canada 2 School of Computer Science, McGill University, Montreal, Canada ...

Background Inherited rare skeletal muscle diseases cause muscle weakness and wasting of variable severity. Without a molecular diagnosis, patients often endure prolonged diagnostic journeys, leading ...

5 Molecular Medicine Unit, Institute of Child Health, London, UK 6 Behavioural and Brain Sciences Unit, Institute of Child Health, London, UK Correspondence to: Dr T Charman, Behavioural and Brain ...

A child with a single central maxillary incisor and a deletion of the short arm of chromosome 18 (18p—) is presented. He is the first patient in whom this association has been found.

Background Tuberous sclerosis complex (TSC) is a genetic disease characterised by the growth of benign tumours. The Tuberous sclerosis Associated Neuropsychiatric Disorders (TAND) Checklist is used to ...