2 North West Thames Regional Genetics Service, Kennedy-Galton Centre, London North West University Healthcare NHS Trust, Harrow, UK This is an open access article distributed in accordance with the ...

1 Department of Medical Statistics and Bioinformatics, Leiden University Medical Centre, Leiden, Netherlands 2 The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden University ...

2 National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK ...

a Vitreoretinal Service, Department of Ophthalmology, Box 41, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK, b Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke ...

Immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX, OMIM 304790) is a rare, recessive disorder resulting in aggressive autoimmunity and early death. Mutations in FOXP3 have been ...

3 Medical Faculty of the University of Porto, Porto, Portugal ...

Background: According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of colorectal tumours ...

1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...

Department of Internal Medicine and Department of Neurosurgery, University of Texas Health Science Center at Houston, Texas, USA If you wish to reuse any or all of ...

Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Correspondence to: Dr Anne Lampe Institute of Human Genetics, University of Newcastle upon Tyne, International ...

1 Division of Medical Genetics, Departments of Genetics and Cardiovascular Sciences, University of Leicester, Leicester, UK 2 Human Genetics Division, University of Southampton, Southampton, UK 3 ...

Background The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack of functional studies. Methods We studied 70 homozygous, compound heterozygous or heterozygous for CFTR ...