Background Gene-expression analysis is increasingly important in biological research, with
real-time reverse transcription PCR (RT-PCR) becoming the method of choice for high-…

Although quantitative PCR (qPCR) is becoming the method of choice for expression profiling
of selected genes, accurate and straightforward processing of the raw measurements …

The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology),
outlined by international expert opinion to facilitate accurate recognition of this genetic …

In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that
LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass …

In 1986, the diagnosis of the Marfan syndrome was codified on the basis of clinical criteria
in the Berlin nosology [Beighton ed al., 1988]. Over time, weaknesses have emerged in the …

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 …

The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group
of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin …

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

Categorization of the Ehlers‐Danlos syndromes began in the late 1960s and was formalized
in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established …

We took advantage of overlapping interstitial deletions at chromosome 8p11–p12 in two
individuals with contiguous gene syndromes and defined an interval of roughly 540 kb …