Croatian medical journal
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Croatian medical journal · Jun 2024
Pregnant couples' attitude toward extended pre-conceptional genomic screening.
To determine the attitudes of pregnant couples toward carrier screening genomic tests. ⋯ Most respondents expressed considerable interest in receiving information about their carrier status through genetic tests.
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Croatian medical journal · Jun 2024
Strong association of TLR2 and TLR3 polymorphisms with keratoacanthoma and common warts: a case-control study.
To determine variations in allele and genotype frequencies between keratoacanthoma (KA) and common warts (CW), compared with the control group, in three single nucleotide polymorphisms (SNPs) within the TLR2, TLR3, and TLR9 genes. ⋯ Genetic variants in TLR2 (rs4696480) and TLR3 (rs7657186) genes may affect KA and CW development, influencing immune responses and susceptibility to these skin lesions. Further research is required to elucidate TLR expression patterns and their role in KA development.
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Croatian medical journal · Jun 2024
Precise identification of cascading alpha satellite higher order repeats in T2T-CHM13 assembly of human chromosome 3.
To precisely identify and analyze alpha-satellite higher-order repeats (HORs) in T2T-CHM13 assembly of human chromosome 3. ⋯ Our findings emphasize the complexity within the chromosome 3 centromere as well as deviations from expected highly regular patterns.
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Croatian medical journal · Jun 2024
Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.
To determine the spectrum and frequency of disease-causing variants in patients with non-syndromic hearing loss (NSHL) and to investigate the diagnostic yield of the applied genetic methods. ⋯ We were able to elucidate the genetic cause of hearing loss in 121 patients, with an overall diagnostic rate of 39.5%. The c.35delG was the most common variant. CES allowed us to diagnose almost half of the patients with HL; to distinguish NSHL from the syndromic form of HL in cases where the phenotype was unclear or where symptoms were absent from an early age; and to discover novel variants.
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Croatian medical journal · Jun 2024
Association of ACE2 and TMPRSS2 genes variants with disease severity and most important biomarkers in COVID-19 patients in Bosnia and Herzegovina.
To assess the association of single nucleotide polymorphisms (SNPs) in the ACE2 and TMPRSS2 genes with COVID-19 severity and key biomarkers. ⋯ This study highlights the role of genetic factors, particularly SNPs in the ACE2 and TMPRSS2 genes, in determining COVID-19 severity, aiding patient risk assessment and prognosis.