Osteogenesis imperfecta (OI) is a generalized disorder of connective tissue characterized by
fragile bones and easy susceptibility to fracture. Most cases of OI are caused by mutations …

Cardiac toxicity is one of the most concerning side effects of anti-cancer therapy. The gain in
life expectancy obtained with anti-cancer therapy can be compromised by increased …

L1 is a neuronal cell adhesion molecule with important functions in the development of the
nervous system. The gene encoding L1 is located near the telomere of the long arm of the X …

We report heterozygous mutations in the genes encoding either type I or type II transforming
growth factor β receptor in ten families with a newly described human phenotype that …

Background The Loeys–Dietz syndrome is a recently described autosomal dominant aortic-aneurysm
syndrome with widespread systemic involvement. The disease is characterized by …

Background Little is known about the incidence of severe critical events in children undergoing
general anaesthesia in Europe. We aimed to identify the incidence, nature, and outcome …

… 0001 ) and a higher frequency of arachnodactyly and P p .0007 … This result was P p .001
highly significant when only missense mutations were included in the analysis (log-rank test …

… We used copy number estimation (meta P value) to identify the microdeletion, the
boundaries of which were defined by loss of heterozygosity. Results were visualized with …

The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia
bundles of specialized sensory hair cells. Sound induces movement of these hair cells …

Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in
children 1 , 2 , 3 . Identification of four genes mutated in NPHP subtypes 1–4 (refs. 4 – 9 ) has …