Publications by authors named "Rauf Baylarov"
Article Synopsis
- - This study investigates DNA variants related to autosomal recessive polycystic kidney disease using next-generation sequencing (NGS) on 304 patients suspected of having the condition.
- - Researchers identified 82 different DNA variants, including 16 novel ones, with the majority being missense variants, and classified them based on their pathogenic significance according to ACMG guidelines.
- - The findings support the use of NGS as a fast and cost-effective method for prenatal diagnostics and carrier identification, enhancing the accuracy of diagnosing the disease.
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View Article and Find Full Text PDFNPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.
Saudi J Kidney Dis Transpl
January 2021
Nephrotic syndrome (NS) is characterized by proteinuria in children. Steroid- resistant NS (SRNS) is defined by resistance to standard steroid therapy, and it continues to be one of the most common causes of chronic renal failure. Molecular studies have revealed specialized molecules in different regions of the podocytes that play a role in proteinuria.
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