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 ...

1 Department of Public Health and Primary Care, University Forvie Site, Robinson Way, Cambridge CB2 2SR, UK 2 Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC ...

Background: Metabolic syndrome (MetS) is defined by a combination of abnormalities that are all individual risk factors for the development of type 2 diabetes and/or cardiovascular disease. The ...

1 Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, California, USA 2 Department of Pediatrics, University of California Davis, School ...

1 Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA 2 ...

We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, ...

1 Department of Pediatrics, Wayne State University, Detroit, MI 48201, USA 2 Department of Neurology, Wayne State University, Detroit, MI 48201, USA Correspondence to: Dr A H M Mahbubul Huq, Division ...