Obesity is a complex, heritable trait influenced by the interplay of genetics, epigenetics,
metagenomics and the environment. With the increasing access to high precision diagnostic …

There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Retinitis pigmentosa (RP) is a group of inherited disorders affecting 1 in 3000-7000 people
and characterized by abnormalities of the photoreceptors (rods and cones) or the retinal …

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by
retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and …

Accurate appropriate assessment of overweight and obesity in children and adolescents is a
critical aspect of contemporary medical care. However, physicians and other health care …

This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …

Bardet–Biedl syndrome is a rare autosomal recessive multisystem disorder caused by
defects in genes encoding for proteins that localize to the primary cilium/basal body …

Obesity is a metabolic state generated by the expansion of adipose tissue. Adipose tissue
expansion depends on the interplay between hyperplasia and hypertrophy, and is mainly …

Bardet–Biedl syndrome (BBS) is a rare inherited disease caused by defects in the BBSome,
an octameric complex of BBS proteins. The BBSome is conserved in most organisms with …

Bardet-Biedl syndrome (BBS) is a human genetic disorder resulting in obesity, retinal
degeneration, polydactyly, and nephropathy. Recent studies indicate that trafficking defects …