Results 21 to 30 of about 690,386 (352)

Association of the leptin receptor Q223R (rs1137101) polymorphism with obesity measures in Sri Lankans [PDF]

open access: yes, 2020
OBJECTIVE: The role of genetic factors in the development of obesity is largely unreported in Sri Lankans. The Q223R (rs1137101) single nucleotide polymorphism (SNP) of the leptin receptor (LEPR) gene has been associated with obesity measures in various ...
Dalton, C.F.   +3 more
core   +1 more source

DIYABC v2.0: a software to make approximate Bayesian computation inferences about population history using single nucleotide polymorphism, DNA sequence and microsatellite data

open access: yesBioinform., 2014
MOTIVATION DIYABC is a software package for a comprehensive analysis of population history using approximate Bayesian computation on DNA polymorphism data. Version 2.0 implements a number of new features and analytical methods. It allows (i) the analysis
J. Cornuet   +7 more
semanticscholar   +1 more source

Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes

open access: yesRevista Brasileira de Hematologia e Hemoterapia, 2015
Objective: To standardize the single nucleotide polymorphism array (SNPa) method in acute myeloid leukemia/myelodysplastic syndromes, and to identify the similarities and differ- ences between the results of this method and karyotyping.
Thiago Rodrigo de Noronha   +2 more
doaj   +1 more source

The C242T polymorphism of the NAD(P)H oxidase p22(phox) subunit is associated with an enhanced risk for cerebrovascular disease at a young age [PDF]

open access: yes, 2008
Background and Purpose: Oxidative stress has been proposed as a major contributing factor for vascular disease, that acts independently from its participation in predisposing disorders such as diabetes and arterial hypertension.
Genius, Just   +2 more
core   +1 more source

Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array

open access: yesHaematologica, 2012
Background The recent advent of genome-wide molecular platforms has facilitated our understanding of the human genome and disease, particularly copy number aberrations.
Hee-Jin Kim   +10 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]

open access: yesIranian 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

Simultaneous profiling of transcriptome and DNA methylome from a single cell. [PDF]

open access: yes, 2016
BackgroundSingle-cell transcriptome and single-cell methylome technologies have become powerful tools to study RNA and DNA methylation profiles of single cells at a genome-wide scale. A major challenge has been to understand the direct correlation of DNA
An, Qin   +9 more
core   +3 more sources

Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

open access: yesUltrasound 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

p53 codon 72 polymorphism in Taiwanese breast cancer patients

open access: yesKaohsiung 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

Single Nucleotide Polymorphism Clustering in Systemic Autoimmune Diseases. [PDF]

open access: yesPLoS 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

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