Results 141 to 150 of about 746,762 (326)

DNA Nanoarray for Multiplexed RNA Detection With Single‐Molecule Readout

open access: yesAdvanced Science, EarlyView.
A carrier‐based DNA nanoarray integrates programmable nucleic acid hybridization with solid‐state nanopore readout for direct RNA detection at single‐molecule resolution. A ternary encoding system enables 27 carriers with 81 addressable sensing sites, allowing the simultaneous identification of targets spanning a wide size range, from short microRNAs ...
Yunxuan Li   +12 more
wiley   +1 more source

The association of C3435T single-nucleotide polymorphism, Pgp-glycoprotein gene expression levels and carbamazepine maintenance dose in patients with epilepsy

open access: yesNeuropsychiatric Disease and Treatment, 2012
Zoran Sterjev1, Gordana Kiteva Trencevska2, Emilija Cvetkovska2, Igor Petrov2, Igor Kuzmanovski2, Jasmina T Ribarska3, Aleksandra K Nestorovska1, Nadica Matevska1, Zorica Naumovska1, Suzana Jolevska-Trajkovic3, Aleksandar Dimovski1, Ljubica ...
Sterjev Z   +11 more
doaj  

Machine Learning‐Augmented Loop‐Mediated Isothermal Amplification‐Enabled Point‐of‐Care for Mpox‐Specific Detection

open access: yesAdvanced Intelligent Systems, EarlyView.
A low‐cost, portable point‐of‐care platform for rapid Mpox detection using loop‐mediated isothermal amplification is reported. The device integrates fluorescence readout and mobile monitoring. A machine‐learning model analyzes temperature data and correlates thermal changes with DNA concentration, enabling sensitive and reliable molecular diagnosis in ...
Nazente Atceken   +4 more
wiley   +1 more source

Close association between A118G single nucleotide polymorphism and opioid, alcohol, and nicotine dependence

open access: yesPsychology Research and Behavior Management, 2012
Shailendra KapoorRichmond, VA, USAI read with great interest the article by Cosci et al in a recent issue of your journal.1 The article provides for highly interesting reading and is very thought-provoking. Interestingly, the past few years have seen the
Kapoor S
doaj  

The Longitudinal Effect of APOL1 Risk Alleles on Sickle Cell Anemia‐Associated Kidney Function

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Progressive kidney injury is a major cause of morbidity and mortality in sickle cell anemia (SCA). The high risk APOL1 G1/G2 variants contribute to the development of kidney disease in individuals of African ancestry, including those with SCA.
Sara R. Rashkin   +7 more
wiley   +1 more source

Determination of single-nucleotide polymorphism in the proximal promoter region of apolipoprotein M gene in coronary artery diseases

open access: yesInternational Journal of General Medicine, 2009
Lu Zheng1, Guanghua Luo1, Xiaoying Zhang1, Jun Zhang1, Jiang Zhu1, Jiang Wei1, Qinfeng Mu1, Lujun Chen1, Peter Nilsson-Ehle2, Ning Xu21Comprehensive Laboratory, The Third Affiliated Hospital, Suzhou University, Changzhou China; 2Division of Clinical ...
Lu Zheng   +3 more
doaj  

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle   +10 more
wiley   +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
J. Cornuet   +7 more
semanticscholar   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George   +11 more
wiley   +1 more source

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