Purpose Facioscapulohumeral muscular dystrophy (FSHD) is a common adult muscular dystrophy. Over 95% of FSHD cases are associated with contraction of the D4Z4 tandem repeat (~3.3 kb per unit) at 4q35 ...

3 Institute of Medical Genetics for Wales, University of Wales College of Medicine, Cardiff CF14 4XN, UK 4 Reproductive Biology and Genetics Group, University of Birmingham, The Medical School, ...

The main features of Silver-Russell syndrome (SRS) are pre- and postnatal growth restriction and a characteristic small, triangular face. SRS is also accompanied by other dysmorphic features including ...

1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...

Pain perception is a vital protective mechanism.1 However, chronic pain, maladaptive and persistent, constitutes a major disease burden.2 Reliance on opioid analgesics is fraught with risks of ...

Background Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the ...

1 Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA 2 Department of Psychiatry and Department of Preventive Medicine, Keck School ...

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 ...

A pericentric inv(11) (pl5q23) detectable by G-, Q-, and R-banding and occuring in 1 member of each of 3 generations of a family is described. In another family studied by several banding methods in ...

Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinic, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA Correspondence to: Dr M G ...

All people with motor neuron disease (pwMND) in England are eligible for genome sequencing (GS), with panel-based testing. With the advent of genetically targeted MND treatments, and increasing demand ...

Correspondence to Professor Dr Leena Bruckner-Tuderman, Department of Dermatology, University Medical Center Freiburg, Hauptstr. 7, 79104 Freiburg, Germany; bruckner-tuderman{at}uniklinik-freiburg.de ...