Read more about the article Aniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

Aniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature.

Abstract Aniridia is a rare congenital ocular malformation that follows an autosomal dominant mode of inheritance. Most patients carry pathogenic point mutations in the paired box 6 gene (), but…

Continue ReadingAniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature.
Read more about the article Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.

Abstract Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring. We present a family,…

Continue ReadingCryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
Read more about the article A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.

Abstract The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely…

Continue ReadingA transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
Read more about the article The possible role of an autoimmune mechanism in the etiopathogenesis of Parkinson’s disease.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

The possible role of an autoimmune mechanism in the etiopathogenesis of Parkinson’s disease.

Abstract The clinical diagnosis of Parkinson's disease (PD) is established through clinical signs such as bradykinesia, rigidity, and resting tremor. Recently, immune system involvement has been implicated as a major…

Continue ReadingThe possible role of an autoimmune mechanism in the etiopathogenesis of Parkinson’s disease.