Background: Oxidative stress has been recently suggested to play a part in the development of osteoporosis. Catalase is a major antioxidant enzyme that detoxifies hydrogen peroxide by converting it ...

Background The utility of diagnostic genetic testing in cardiomyopathy has grown significantly, due to the discovery of novel genes and greater awareness among healthcare professionals. However, a ...

Background and aims Neurofibromatosis–Noonan syndrome (NFNS) is an extremely rare genetic entity combining the clinical phenotype of two conditions: neurofibromatosis type 1 syndrome (NF1) and Noonan ...

Background The NHS Jewish BRCA Testing Programme is offering germline BRCA1 and BRCA2 genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi ...

1 Department of Medical Genetics, University of Cambridge and Addenbrooke’s NHS Hospital Trust, Cambridge, UK 2 Department of Ophthalmology, Addenbrooke’s NHS Hospital Trust, Cambridge, UK 3 ...

Department of Dermatology, Columbia University Medical Center, New York, USA Correspondence to: Dr Julide Tok Celebi Department of Dermatology, Columbia University, 630 West 168th Street, VC-15-202, ...

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 ...

Background Copy number variants (CNVs) associated with late-onset medical conditions are rare but important secondary findings in chromosomal microarray analysis (CMA) performed during pregnancy. Here ...

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A tandem duplication of exon 42 of the DMD gene is a likely benign variant ...

1 Cardiovascular Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA 2 Section on Human Genetics, Laboratory of Molecular Genetics, National ...

Correspondence to Dr Arupa Ganguly, Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; ganguly{at}pennmedicine.upenn.edu; Dr Jennifer M Kalish ...