Interstitial Chromosome 3p13p14 Deletions: An Update and Review

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions.

visceral leishmaniasis: an update and literature review

conclusions development of novel drugs and diagnostic tests has allowed us to better manage vl. although leishmaniasis is one of the oldest known parasitic infectious diseases, increasing prevalence of vl among specific populations, recent reports of disease reactivation and flare-up in clinically asymptomatic patients after the onset of immunosuppressive therapy, the risk of disease acquisitio...

Interstitial deletions and intrachromosomal amplification initiated from a double-strand break targeted to a mammalian chromosome.

Interstitial deletions of tumour suppressor genes and amplification of oncogenes are two major manifestations of chromosomal instability in tumour cells. The development of model systems allowing the study of the events triggering these processes is of major clinical importance. Using the properties of the I-SceI nuclease to introduce a localized double-strand break (DSB) in a mammalian chromos...

Chromosome 1p36 deletions

Disease name and synonyms Diagnosis criteria / definition Differential diagnosis Frequency Clinical description Molecular characterization Management References

I-3: Human Y Chromosome Proteome Project 2012 Update

The Human Genome Project has generated a blueprint for the approximately 20,300 gene-encoded proteins potentially active in any of 230 cell types that make up the human body (human proteome). However, based on the UniProtKB/Swiss-Prot database content, about 6000 of at the protein level; for many others, there is very little information related to protein function, abundance, subcellular locali...