Publications by authors named "E Pipiras"
Objective: To study karyotypes of >8,200 oocyte donor candidates in nulliparous or multiparous women compared with a reference population.
Design: A retrospective observational multicentric study.
Setting: University Hospital Centers.
Importance: Cerebral small vessel diseases (CSVDs) account for one-fifth of stroke cases. Numerous familial cases remain unresolved after routine screening of known CSVD genes.
Objective: To identify novel genes and mechanisms associated with familial CSVD.
FMR1 premutation female carriers are at risk of developing premature/primary ovarian insufficiency (POI) with an incomplete penetrance. In this study, we determined the CGG repeat size among 1095 women with diminished ovarian reserve (DOR) / POI and characterized the CGG/AGG substructure in 44 women carrying an abnormal FMR1 repeat expansion number, compared to a group of 25 pregnant women carrying an abnormal FMR1 CGG repeat size. Allelic complexity scores of the FMR1 gene were calculated and compared between the two groups.
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- A family with autosomal dominant early-onset cerebral amyloid angiopathy (CAA) and Alzheimer disease (AD) showed a triplication of the amyloid-β precursor protein (APP) gene, linked to higher mRNA expression levels.
- Genetic testing using quantitative PCR and other methods confirmed the presence of four copies of the APP gene in the proband, along with abnormal biomarker profiles indicative of AD.
- The findings suggest that increased APP gene copies could lead to earlier onset of AD and CAA, as exemplified by severe symptoms developing at age 39 in the proband, compared to his father's earlier medical issues.