Results 21 to 30 of about 715,579 (403)

Clinical experience with a single‐nucleotide polymorphism‐based non‐invasive prenatal test for five clinically significant microdeletions

open access: yesClinical Genetics, 2018
Single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal testing (NIPT) can currently predict a subset of submicroscopic abnormalities associated with severe clinical manifestations.
K. Martin   +11 more
semanticscholar   +1 more source

The Interleukin-1 (IL-1) Superfamily Cytokines and Their Single Nucleotide Polymorphisms (SNPs)

open access: yesJournal of Immunological Research, 2022
Interleukins (ILs)—which are important members of cytokines—consist of a vast group of molecules, including a wide range of immune mediators that contribute to the immunological responses of many cells and tissues.
P. Behzadi   +10 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

Bulk segregant analysis using single nucleotide polymorphism microarrays. [PDF]

open access: yesPLoS ONE, 2011
Bulk segregant analysis (BSA) using microarrays, and extreme array mapping (XAM) have recently been used to rapidly identify genomic regions associated with phenotypes in multiple species.
Anthony Becker   +4 more
doaj   +1 more source

A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of onset: HapMap tag-sincle-nucleotide polymorphism analysis [PDF]

open access: yes, 2012
Background: Dopamine D2 receptor (DRD2) is thought to be critical in regulating the dopaminergic pathway in the brain which is known to be important in the aetiology of schizophrenia. It is therefore not surprising that most antipsychotic medication acts
Hughes, Ian   +5 more
core   +2 more sources

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

Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype [PDF]

open access: yes, 2009
Nucleotide excision repair (NER) is responsible for repairing bulky helix-distorting DNA lesions and is essential for the maintenance of genomic integrity.
Alison Spiers   +11 more
core   +1 more source

Picking single-nucleotide polymorphisms in forests [PDF]

open access: yesBMC 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

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

Single Nucleotide Polymorphism Markers Associated with Seed Quality Characteristics of Cultivated Lentil

open access: yesThe Plant Genome, 2018
Only a few genomic regions control seed shape in lentil. Single nucleotide polymorphism markers associated with seed dimensions were identified. Lentil seed size is not dependent on cotyledon color.
H. Khazaei   +4 more
semanticscholar   +1 more source

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