Chromosomal rearrangements involving the ends of chromosomes (telomeres) are emerging as an important cause of human genetic diseases. This review describes the development of first and second ...

1 Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands 2 Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the ...

The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...

Correspondence to Dr Hywel J Williams, GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; hywel.williams{at}ucl.ac.uk Background Rare ...

Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a ...

Background Deregulation of the activity of the ubiquitin ligase E6AP (UBE3A) is well recognised to contribute to the development of Angelman syndrome (AS). The ubiquitin ligase HERC2, encoded by the ...

1 Program in Developmental Biology, the Hospital for Sick Children, Toronto, Canada 2 Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, and Discipline of Paediatrics ...

Correspondence to Dr Dorothy Halliday, Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Hospital, Windmill Rd, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; dorothy.halliday{at ...

Among the clusters of imprinted genes in humans, one of the most relevant regions involved in human growth is localised in 11p15. Opposite epigenetic and genomic disturbances in this chromosomal ...

Li-Fraumeni syndrome (LFS) is a high-risk hereditary cancer predisposition syndrome affecting 1 in 5000 individuals. Current ...

Background Molecular genetic diagnoses are critical to prevention and treatment of inherited polyposis and colorectal cancer.

1 Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China Background Nanophthalmos is a rare ocular condition characterised by a significantly short axial ...