Department of Physiology, Biophysics, and Neuroscience, Center for Research and Advanced Studies of the National Polytechnic Institute (Cinvestav-IPN), Mexico ...

1 Centre for Diabetes and Endocrine Research, University of Queensland School of Medicine, Princess Alexandra Hospital, Ipswich Rd, Woolloongabba, Qld 4102, Australia 2 The Queensland Institute of ...

7 INSERM U621, IFR 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France 8 Laboratoire de génétique et insuffisance cardiaque, Association Claude Bernard, IFR 14, Groupe Hospitalier ...

Facioscapulohumeral muscular dystrophy (FHSD) is a genetically heterogeneous, autosomal dominant primary disease of muscle. The predominant form of FSHD, which has been designated FSHD1A, has been ...

1 Molecular Medicine Unit, University of Leeds, St James’s University Hospital, Leeds, UK 2 Department of Clinical Genetics, St James’s University Hospital, Leeds, UK Aicardi-Goutiéres syndrome (AGS) ...

Correspondence to: Professor Kate Bushby Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK; ...

4 The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus Correspondence to Dr Peristera Paschou, Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA; ...

Correspondence to Dr William D Foulkes, Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec H4A 3J1, Canada; william.foulkes{at}mcgill.ca Non-epithelial ovarian tumours ...

Correspondence to Professor Johannes Häberle, Division of Metabolism, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich 8032, Switzerland; Johannes.haeberle{at}kispi.uzh.ch Background ...

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 ...

Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can ...