Results 21 to 30 of about 709,841 (333)
Ultrasound in Obstetrics and Gynecology, 2016 To evaluate the performance of a single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow‐up and review patient choices for women with ...
S. Gross +14 more
semanticscholar +1 more source
Single Nucleotide Polymorphism Clustering in Systemic Autoimmune Diseases. [PDF]
PLoS ONE, 2016 Systemic Autoimmune Diseases, a group of chronic inflammatory conditions, have variable symptoms and difficult diagnosis. In order to reclassify them based on genetic markers rather than clinical criteria, we performed clustering of Single Nucleotide ...
Thomas Charlon +8 more
doaj +1 more source
Association of Single Nucleotide Polymorphisms in the PYGO2 and PRDM9 Genes with Idiopathic Azoospermia in Iranian Infertile Male Patients [PDF]
Iranian Journal of Medical Sciences, 2023 Background: Azoospermia is a risk factor for infertility affecting approximately 1% of the male population. Genetic factors are associated with non-obstructive azoospermia (NOA). Pygo2 and PRDM9 genes are involved in the spermatogenesis process.
Sanaz Soleymani Moud +3 more
doaj +1 more source
Copy-number-variation and copy-number-alteration region detection by cumulative plots [PDF]
BMC Bioinformatics, 10(suppl 1):S67 (2009), 2009 Background: Regions with copy number variations (in germline cells) or copy number alteration (in somatic cells) are of great interest for human disease gene mapping and cancer studies. They represent a new type of mutation and are larger-scaled than the single nucleotide polymorphisms.
arxiv +1 more source
p53 codon 72 polymorphism in Taiwanese breast cancer patients
Kaohsiung Journal of Medical Sciences, 2013 There are clear discrepancies between ethnicity and geographic area regarding the peak age incidence and mortality of breast cancer. Underlying variances include genetic, environmental, and socioeconomic factors.
Fang-Ming Chen +4 more
doaj +1 more source
Picking single-nucleotide polymorphisms in forests [PDF]
BMC Proceedings, 2007 Abstract With the development of high-throughput single-nucleotide polymorphism (SNP) technologies, the vast number of SNPs in smaller samples poses a challenge to the application of classical statistical procedures. A possible solution is to use a two-stage approach for case-control data in which, in the first stage, a screening test selects
Silke Szymczak +3 more
openaire +3 more sources
Scientific Reports, 2015 Restriction-enzyme (RE)-based next-generation sequencing methods have revolutionized marker-assisted genetic studies; however, the use of REs has limited their widespread adoption, especially in field samples with low-quality DNA and/or small quantities ...
Y. Suyama, Y. Matsuki
semanticscholar +1 more source
Annals of Gastroenterological Surgery, Volume 7, Issue 1, Page 63-70, January 2023., 2023 We found that microRNA‐196b‐5p was significantly upregulated in precancerous lesions and that combining it with other microRNAs increased the accuracy of detection. Since endoscopy is associated with risk, the identification of high‐risk groups for gastric cancer is expected to make it possible to clearly identify groups that should undergo endoscopy ...
Hajime Otsu +9 more
wiley +1 more source
Balkan Medical Journal, 2017 Background: Atopic dermatitis is the most common chronic inflammatory skin disease. A complex interaction of both genetic and environmental factors is thought to contribute to the disease. Aims: To evaluate whether single nucleotide polymorphisms in the
Ceren Can +5 more
doaj +1 more source
Superoxide dismutase coding of gene polymorphisms associated with susceptibility to Parkinson’s disease [PDF]
Journal of Integrative Neuroscience, 2019 Oxidative stress linked to the etiology of Parkinson’s disease, which is characterized by chronic and progressive neurodegeneration of dopamine neurons.
Chunlei Liu, Jinju Fang, Wenke Liu
doaj +1 more source