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Craniofacial malformations affecting head and face are a primary cause of infant mortality and can result in severe functional, aesthetical, and social consequences for affected individuals and their families. Anomalies include ossification defects of facial and cranial bones, jaw deformities, malfo ...
Recent studies have indicated that humans have an exceptionally high per-generation mutation rate of 7.6 x 10-9 to 2.2 x 10-8. These spontaneous germline mutations can have serious phenotypic consequences when affecting functionally relevant bases in the genome. In fact, their occurrence may explain ...
A growing number of human diseases are associated with the expansion of simple sequence repeats within the transcribed region of the gene (1-3). In most cases the expansion is of a trinucleotide repeat, often, CAG or CGG, but some disease are associated with the expansion of tetranucleotide (4), pen ...
The recent study of different connective tissue diseases and their homologous mouse models have dramatically altered our understanding of their pathogenesis. A major breakthrough was realized with the study of mouse model of Marfan syndrome (MFS). The study of emphysema development in a fibrillin-1 ...
There is considerable variation between the genetic code of two individuals, both at the single nucleotide and at the structural level. Identifying and studying the consequences of these variations, a core activity in human genetics research, is driven by technological innovations. Currently we are ...
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