Publications by authors named "E Sukarova-Stefanovska"

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The Roma population is a European ethnic minority characterized by recent and multiple dispersals and founder effects. After their origin in South Asia around 1,500 years ago, they migrated West. In Europe, they diverged into ethnolinguistically distinct migrant groups that spread across the continent.

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Article Synopsis
  • The Roma Diaspora, originating from India and migrating through Western Asia to Europe, remains largely unexamined in historical migratory studies.
  • Genetic analysis of 46 Roma individuals showed a significant founder effect and a 44% reduction in population size, indicating past bottlenecks and endogamy.
  • Despite gene flow from other groups, over 50% of Roma genomes stem from non-Roma Europeans, highlighting the lingering genetic signatures of their early migration experiences.
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The most prevalent "rare" disease worldwide, cystic fibrosis (CF), is an autosomal recessive multisystem disease, caused by mutations in the gene. The knowledge of mutations present in certain population is important for designing a simple, fast and cost-effective genetic testing approach, also for better management of CF patients, including the administration of novel targeted therapies. Here, we present genetic results of 158 unrelated CF patients from the National CF Registry of the Republic of North Macedonia.

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Background: The quantitative fluorescent polymerase chain reaction (QF-PCR) has proven to be a reliable method for detection of common fetal chromosomal aneuploidies. However, there are some technical shortcomings, such as uncertainty of aneuploidy determination when the short tandem repeats (STR) height ratio is unusual due to a large size difference between alleles or failure due to the presence of maternal cell contamination (MCC). The aim of our study is to facilitate the implementation of the QF-PCR as a rapid diagnostic test for common fetal aneuploidies.

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