Journal of Medical Genetics (JMG) is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles ...

Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.

3 Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands 4 Centre for Rare Diseases and Personalised Medicine and School of Clinical and Experimental Medicine, College of ...

2 The National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, Israel Correspondence to Professor Ruti Parvari, Department of Microbiology, Immunology and ...

Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists ...

Background Germline genetic testing affords multiple opportunities for women with breast cancer, however, current UK NHS models for delivery of germline genetic testing are clinician-intensive and ...

Correspondence to: Professor Richard C Trembath Division of Medical Genetics, Adrian Building, University of Leicester, University Road, Leicester LE1 7RH, UK; rtrembathgmp.mrc.ac.uk BMPR-II, endoglin ...

Departments of Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon, USA A Gregory, Molecular and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson ...

Correspondence to Dr Michael J Browning, Department of Immunology, UHL NHS Trust, Leicester Royal Infirmary Square, Leicester LE1 5WW,UK; mjb22{at}le.ac.uk Methods and results Two patients with Cowden ...

Correspondence to Dr William D Foulkes, Department of Medical Genetics, Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, 3755 Cote St. Catherine Road, Montreal, Québec, Canada H3T ...

Correspondence to Professor Eva Brand, Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology and Interdisciplinary Fabry Center Münster (IFAZ), University Hospital Münster, ...