Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada Results: A novel germline CDH1 truncating mutation in the extracellular portion of ...

Background Azoospermia is diagnosed when sperm cells are completely absent in the ejaculate even after centrifugation. It is identified in approximately 1% of all men and in 10%–20% of infertile males ...

Background Amyotrophic lateral sclerosis overlaps aetiologically and genetically with frontotemporal dementia and occurs in both familial and apparently sporadic forms. The most commonly implicated ...

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-q13. Their clinical testing is often multitiered; diagnostic ...

Correspondence to Professor D Gareth Evans, Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, St Mary’s Hospital, University of Manchester, Manchester M13 9WL, UK; ...

Correspondence to Professor Wenhao Zhou, Department of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China; zhouwenhao{at}fudan.edu.cn Background Congenital anomalies are the ...

1 National Human Genome Research Institute, National Institutes of Health, Bldg 49, Room 4B75, 49 Convent Drive, Bethesda, MD 20892-4472, USA 2 Department of Medical Genetics, Children’s National ...

1 Centre for Community Child Health, Royal Children’s Hospital, Parkville, Victoria, Australia 2 Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, Victoria, Australia ...

8 Lipoproteins and Atherosclerosis Unit, University of Ottawa Heart Institute, Ottawa, ON, Canada Correspondence to: Dr F Tesson University of Ottawa Heart Institute, 40 Ruskin Street, Ottawa, Ontario ...

2 Trinity College Institute of Neuroscience, Trinity College, Dublin, Ireland 3 Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Dublin, Ireland 4 TrinSeq, Institute of Molecular ...

The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...