Results 21 to 30 of about 709,557 (336)

Investigations into the molecular effects of single nucleotide polymorphism [PDF]

, 2000
Objectives: DNA sequences are very rich in short repeats and their pattern can be altered by point mutations. We wanted to investigate the effect of single nucleotide polymorphism (SNP) on the pattern of short DNA repeats and its biological consequences.
Lohrer, Horst D., Tangen, Uwe
core   +1 more source

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

, 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, Lawford, Bruce, Morris, Phillip, Swagell, Christopher, Voisey, Joanne, Young, Ross   +5 more
core   +2 more sources

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

Revista 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, Sandra Serson Rohr, Maria de Lourdes Lopes Ferrari Chauffaille   +2 more
doaj   +1 more source

Detection of Single Nucleotide Polymorphism Rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate [PDF]

, 2019
Background: Cleft lip and palate are congenital disorders which induce affected individuals medically, socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide Polymorphism(SNP); rs2013162 of ...
Shehzad, H. (Husnain), Shehzad, O. (Osheen)   +1 more
core   +4 more sources

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

Haematologica, 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, Duk-Kyung Kim, Ki-Young Yoo, Chur-Woo You, Jong-Ha Yoo, Ki-O Lee, In-Ae Park, Hae-Sun Choung, Hee-Jung Kim, Min-Jung Song, Sun-Hee Kim   +10 more
doaj   +1 more source

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

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, M. Stosic, D. McDonald-McGinn, A. Bassett, A. Norvez, R. Dhamankar, Katie Kobara, E. Kırkızlar, B. Zimmermann, N. Wayham, Joshua Babiarz, A. Ryan, Kristine N. Jinnett, Z. Demko, P. Benn   +14 more
semanticscholar   +1 more source

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

PLoS 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, Dai-Yin Chao, Xu Zhang, David E Salt, Ivan Baxter   +4 more
doaj   +1 more source

Transcriptional immune response in mesenteric lymph nodes in pigs with different levels of resistance to Ascaris suum [PDF]

, 2017
A single nucleotide polymorphism on chromosome 4 (SNP TXNIP) has been reported to be associated with ...
Cirera, Susanna, Fredholm, Merete, Jørgensen, Claus B, Nejsum, Peter, Pipper, Christian B., Skallerup, Per, Skovgaard, Kerstin, Thamsborg, Stig M.   +7 more
core   +1 more source

MIG-seq: an effective PCR-based method for genome-wide single-nucleotide polymorphism genotyping using the next-generation sequencing platform

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

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, Manuel Martínez-Bueno, Lara Bossini-Castillo, F David Carmona, Alessandro Di Cara, Jérôme Wojcik, Sviatoslav Voloshynovskiy, Javier Martín, Marta E Alarcón-Riquelme   +8 more
doaj   +1 more source