Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …

The gene encoding the secreted protein Sonic hedgehog (Shh) is expressed in the
polarizing region (or zone of polarizing activity), a small group of mesenchyme cells at the …

The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision
and blindness, was investigated in families lacking a molecular diagnosis. A refined locus …

Over the past decades the search for disease causing variants has been focusing
exclusively on the coding genome. This highly selective approach has been extremely …

Bone development is a tightly regulated process. Several integrated signaling pathways
including HH, PTHrP, WNT, NOTCH, TGF-β, BMP, FGF and the transcription factors SOX9 …

Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb
anomaly characterized by extra fingers or toes, with various associated morphologic …

Enhancers are a class of regulatory elements essential for precise spatio-temporal control of
gene expression during development and in terminally differentiated cells. This review …

Large-scale identification of elements associated with gene expression revealed that many
of them are located extremely far from gene transcriptional start sites. We review here the …

Complex chromosome rearrangements (CCRs) are currently defined as structural genome
variations that involve more than 2 chromosome breaks and result in exchanges of …

Polydactyly is a malformation during the development of the human limb, which is
characterized by the presence of more than the normal number of fingers or toes. It is …