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Influence of the detection of parent-of-origin on the pregnancy outcomes of fetuses with copy number variation of unknown significance
The widespread application of high-resolution chromosome detection technology in clinical practice has identified many variants of unknown...
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Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting
Fetal growth restriction (FGR), a leading cause of perinatal morbidity and mortality, is caused by fetal, maternal, and placental factors....
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FISH improves risk stratification in acute leukemia by identifying KMT2A abnormal copy number and rearrangements
Most cases of acute leukemia (AL) with KMT2A rearrangement ( KMT2A -r) have a dismal prognosis. Detection of this aberration in Chinese adult patients...
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Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases
Increased sequencing depth can improve the detection rate of noninvasive prenatal testing (NIPT) for chromosome aneuploidies and copy number...
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Preventive efficiency of Cornelian cherry (Cornus mas L.) fruit extract in diniconazole fungicide-treated Allium cepa L. roots
Cornelian cherry ( Cornus mas L.) is a medicinal plant with antioxidant-rich fruits. Diniconazole, a broad-spectrum fungicide, is employed...
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Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes
Many fetuses are found to have ultrasonic abnormalities in the late pregnancy. The association of fetal ultrasound abnormalities in late pregnancy...
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Oocyte aneuploidy rates in river and swamp buffalo types (Bubalus bubalis) determined by Multi-color Fluorescence In Situ Hybridization (M-FISH)
Aneuploidy is one of the main causes of fetal and embryonic mortality in mammals. Nonetheless, its incidence in domestic ruminants has been...
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Clinical and ultrasound features associated with congenital cytomegalovirus infection as potential predictors for targeted newborn screening in high-risk pregnancies
This prospective cohort study aimed to determine clinical factors associated with congenital cytomegalovirus (CMV) infection in pregnancy. Newborns...
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Importance of TREC and KREC as molecular markers for immunological evaluation of down syndrome children
Recurrent and severe infections occurred in children with Down Syndrome (DS) due to immunological parameter defects have been reported. The aim of...
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Diagnostic value of maternal alpha-fetoprotein variants in second-trimester biochemical screening for trisomy 21 and 18
To evaluate the clinical predictive value of serum alpha-fetoprotein variants (AFP-L2, AFP-L3) in combination with maternal serum prenatal screening...
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Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes
Myelodysplastic syndromes (MDS) are a group of clonal hematological disease with high risk of progression to AML. Accurate risk stratification is of...
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Loss of Nudt15 thiopurine detoxification increases direct DNA damage in hematopoietic stem cells
Thiopurines, such as 6-mercaptopurine (6-MP), are widely used as cytotoxic agents and immunosuppressants for leukemia and autoimmune or inflammatory...
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Molecular docking assisted biological functions and phytochemical screening of Amaranthus lividus L. extract
In this study, the phytochemical content of Amaranthus lividus extract and its multi-biological activities were investigated. Total protein, phenol,...
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Phytochemical fingerprint and biological activity of raw and heat-treated Ornithogalum umbellatum
The plants that we use as food in our daily diet and as risk preventers against many diseases have many biological and pharmacological activities....
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Predicting the relationship between pesticide genotoxicity and breast cancer risk in South Indian women in in vitro and in vivo experiments
Breast cancer is the third most common cancer in women after skin and lung cancer. Pesticides are of interest in etiologic studies of breast cancer...
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Cytogenetic testing by fluorescence in situ hybridization is improved by plasma cell sorting in multiple myeloma
Accurate detection of cytogenetic abnormalities has become more important for improving risk-adapted treatment strategies in multiple myeloma (MM)....
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Concepts of Double Hit and Triple Hit Disease in Multiple Myeloma, Entity and Prognostic Significance
Risk assessment in newly diagnosed multiple myeloma patients (NDMM) is the first and the most crucial determinant of treatment. With the utilization...
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The impact of COVID-19 on microRNA and CD marker expression in AML patients
Acute myeloid leukaemia (AML) is an aggressive leukaemia characterised by uncontrolled blast cell proliferation. miRNAs and Clusters of...
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Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype
Numeric sex chromosome abnormalities are commonly associated with an increased cancer risk. Here, we report a 14-year-old boy with a rare mosaic 45,...
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Infertility risk assessment with ultrasound in congenital adrenal hyperplasia male patients
Testicular adrenal rest tumor (TART) is a prevalent complication associated with congenital adrenal hyperplasia (CAH), culminating in gonadal...