Results 111 to 120 of about 67,701 (309)

Serological evidence for multiple strains of canine norovirus in the UK dog population.

open access: yesPLoS ONE, 2013
Noroviruses are associated with intestinal disease in humans, cows, pigs, mice, and, more recently, dogs. In 2007, the first canine norovirus (CNV) was identified and characterized in Italy.
Sarah Caddy   +6 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

CNV calling, analysis, filtering methodology and results. [PDF]

open access: yes, 2019
In addition to GC waviness correction and log2 ratio filtering, we applied a rigid quality control pipeline at sample, CNV and annotation levels to identify disease-associated CNV candidates.
Peter Andrews (45652)   +9 more
core   +1 more source

In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy?

open access: yesFrontiers in Medicine
PurposeCopy number variation sequencing (CNV-Seq) has become a first-line prenatal diagnostic technology. The purpose of this study was to investigate the changes in the target population for prenatal diagnosis in the CNV-Seq era and to assess the ...
Shaozhe Yang   +13 more
doaj   +1 more source

Detection of copy number variations in brown and white layers based on genotyping panels with different densities

open access: yesGenetics Selection Evolution, 2018
Background Copy number variations (CNV) are an important source of genetic variation that has gained increasing attention over the last couple of years.
Wioleta Drobik-Czwarno   +3 more
doaj   +1 more source

Prevalence of Phelan McDermid Syndrome Estimated To Be ~1:7300 Using a Multisource Model

open access: yesAutism Research, EarlyView.
ABSTRACT Estimating the prevalence of genetic disorders is complicated by many factors including sampling bias and differing methods of estimation. However, establishing the true prevalence of these disorders is critical for understanding disease burden, pharmacoeconomic modeling, and resource allocation for testing and care.
Tess Levy   +22 more
wiley   +1 more source

Mouse Laser-Induced CNV Assay. [PDF]

open access: yes, 2014
(A) Subretinal injection of MSA-CEP does not increase CNV area compared to mice injected with saline or MSA-CTL2. Bar graph shows mean area of CNV +/− SEM from first experiment evaluating the effect of subretinal injection of saline, 0.5 µg of rhVEGF165,
Bruce Jaffee (649237)   +26 more
core   +1 more source

Single‐Cell Profiling Reveals Distinct Immune Hallmarks in Untreated Primary Colorectal and Liver Metastasis Cancers

open access: yesChronic Diseases and Translational Medicine, EarlyView.
Features the major cell type compositions among colon and liver metastasis. (A) The study design for single‐cell data analysis. (B) The annotated major cell types. Each type was labeled with a special color. (C) Dot plot of canonical marker genes for major cell types. (D) Bar plot of the percentage for each cell type in individuals. (E) Bar plot of the
Zhixun Zhao   +10 more
wiley   +1 more source

Transpupillary thermotherapy of occult CNV with no or minimally classic CNV in age-related macular degeneration [PDF]

open access: yes, 2001
Transpupillary thermotherapy (TTT) has been suggested as a putative treatment for choroidal neovascularization (CNV) in age-related macular degeneration (AMD).
Seregard, S,, Libert, C, Algvere, PV
core   +1 more source

Does Next Generation Sequencing (NGS)‐Based CYP2D6 Sequencing Improve Genotype–Phenotype Concordance in Tamoxifen‐Treated Patients?

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
CYP2D6 metabolizes about 20% of commonly used drugs, including tamoxifen, a major hormone therapy for breast cancer. Although the relationship between tamoxifen pharmacokinetics and CYP2D6 genotype has been demonstrated, residual variability in drug exposure remains unexplained.
Jeanne Petit   +7 more
wiley   +1 more source

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