Background Chromosome 19 is the most gene-dense chromosome in the human genome, with a high frequency of segmental duplications that predispose it to genomic rearrangements. While deletions of ...

56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...

9 Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA 10 Department of Internal Medicine, University of Texas Medical School at Houston, ...

Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a ...

O Zuffardi, Dipartimento di Patologia Umana ed Ereditaria, Sezione Biologia Generale e Genetica Medica, via forlanini 14, 27100 Pavia; zuffardi{at}unipv.it If you wish to reuse any or all of this ...

Correspondence to: Gudrun A Rappold PhD, Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany; gudrun.rappold{at}med.uni-heidelberg.de Methods: To ...

1 Genetic Epidemiology Branch, Division of Cancer Epidemiology & Genetics, National Cancer Institute, Bethesda, Maryland, USA 2 Dermatology Branch, National Cancer Institute, Bethesda, Maryland, USA 3 ...

Duchenne muscular dystrophy (DMD) is a severe X-linked myopathy characterised by progressive skeletal and cardiac muscle degeneration, loss of ambulation, respiratory failure and premature mortality.

Background Two recombinant enzymes (agalsidase alfa 0.2 mg/kg/every other week and agalsidase beta 1.0 mg/kg/every other week) have been registered for the treatment of Fabry disease (FD), at equal ...

Correspondence to Dr Ian P Blair, Biomedical Sciences, Macquarie University Faculty of Medicine and Health Sciences, Sydney, NSW 2109, Australia; ian.blair{at}mq.edu.au Background Amyotrophic lateral ...

2 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada 3 Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, ...

Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK Professor P F Chinnery, Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, ...