Significados de causative genes em inglês

It is a rare heterogeneous condition with seven causative genes reported to date.

Previous studies have aimed to identify the causative genes of SCZ.

POI is heterogeneous with only a few causative genes having been discovered so far.

Positional cloning studies are required to further dissect the potential causative genes in the region.

We now have a refined group of cases that will facilitate identification of new causative genes.

To identify causative genes, we investigated three multigenerational goiter families with an autosomal dominant inheritance pattern.

Few causative genes have been identified, to date.

Following the discovery of the causative genes, more information has emerged on the breadth of clinical features.

Conclusions: We conclude that PPH may be a genetically heterogeneous disorder with at least two-and possibly more- causative genes.

Despite multiple efforts using traditional positional cloning, the causative genes for unsolved dystroglycanopathy cases have escaped discovery for several years.

Consequently, additional causative genes, either unknown or responsible of partially merging entities, possibly account for the remaining 30% of the patients.

The wide application of massively parallel sequencing methods is increasing the number of known causative genes and broadening the range of clinical phenotypes.

Available single disease registries provide reliable information regarding natural history, efficacy and side effects of treatments, and contribute to the discovery of the causative genes.

The analysis thus suggests clustered transcription in Xq27 and provides candidates for several heritable disorders for which the causative genes have not yet been found.

Methods: Twenty-seven micro-satellite markers were randomly selected from the region around the known loci of causative genes, and haplotypes were determined by ABI3100 genetic analyzer.

In approximately 10-30% of individuals with a clinical diagnosis of CFC, a mutation in one of these causative genes is not found.