A formula to calculate recurrence risk for germline mosaicism published by Hartl in 1971 has been updated to include marker information. For practical genetic counselling new, more elaborate tables ...

Brain development involves the sequential expression of vulnerable biological processes including cell proliferation, programmed cell death, neuronal migration, synapse and functional unit formation.

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, ...

4 Unitè de gènètique molèculaire, Groupe hospitalier Necker Enfants malades, Assistance Publique -Hôpitaux de Paris, Paris, France 5 Universitè Paris Descartes - Sorbonne Paris Citè, Institut Imagine, ...

The 11p15 region is organised into two independent imprinted domains controlled by imprinting control regions, which carry opposite germline imprints. Dysregulation of 11p15 genomic imprinting results ...

Correspondence to Ma'n H Zawati, Faculty of Medicine, Department of Human Genetics, Centre of Genomics and Policy, McGill University, 740 Dr Penfield Avenue, Room 5103, Montreal, Quebec, Canada QC H3A ...

Background Lynch syndrome (LS) is an autosomal dominant cancer predisposition syndrome caused by a germline pathogenic variant, or epigenetic silencing, of a mismatch repair (MMR) gene, leading to a ...