A recent English court decision raises an issue clinicians increasingly face, namely whether, when and how a patient’s genetic information should be communicated to at-risk relatives. In ABC v St.

2 Micro Array Facility, Flanders Interuniversity Institute for Biotechnology (VIB), Leuven, Belgium 3 Centre for Human Genetics, Flanders Interuniversity Institute for Biotechnology (VIB4), Department ...

A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most ...

Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...

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 ...

3 Institute of Dermatology and Department of Dermatology at the First Hospital, Anhui Medical University, Hefei, Anhui, China 4 Key Lab of Gene Resource Utilization for Severe Diseases, Ministry of ...

1 Institut de Génétique et du Biologie Moleculaire et Cellulaire, CNRS INSERM, Université Louis Pasteur, Illkirch, CU de Strasbourg, France 2 Department of Clinical Genetics, Leicester Royal Infirmary ...

Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a ...

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 ...

Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...

Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King’s College London School of Medicine, Guy’s Campus, London, UK Department of Gastroenterology, Guy’s and ...

Departments of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, Illinois, USA Objective: A pilot open label, single dose trial of fenobam, an mGluR5 antagonist ...