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An evolving view of copy number variants
Current Genetics, 2019Copy number variants (CNVs) are regions of the genome that vary in integer copy number. CNVs, which comprise both amplifications and deletions of DNA sequence, have been identified across all domains of life, from bacteria and archaea to plants and animals.
Stephanie Lauer, D. Gresham
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Copy number variants in autism spectrum disorders
Progress in Neuro-Psychopharmacology and Biological Psychiatry, 2019&NA; In recent years, there has been an explosive increase in genetic studies related to autism spectrum disorder (ASD). This implicated the accumulation of a large amount of molecular data that may be used to verify various hypotheses and models ...
S. Vicari +7 more
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Ultrasound in Obstetrics and Gynecology, 2021
To assess the clinical utility of prenatal chromosomal microarray analysis (CMA) in fetuses with abnormal renal sonographic findings, and to evaluate the association of pathogenic or likely pathogenic copy number variants (P/LP CNVs) with different types
J. Su +13 more
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To assess the clinical utility of prenatal chromosomal microarray analysis (CMA) in fetuses with abnormal renal sonographic findings, and to evaluate the association of pathogenic or likely pathogenic copy number variants (P/LP CNVs) with different types
J. Su +13 more
semanticscholar +1 more source
Somatic copy number variants in neuropsychiatric disorders
Current Opinion in Genetics & Development, 2021Copy number variants (CNVs) have been implicated in neuropsychiatric disorders, with rare-inherited and de novo CNVs (dnCNVs) having large effects on disease liability. Recent studies started exploring a class of dnCNVs that occur post-zygotically, and are therefore present in some but not all cells of the body.
Eduardo A Maury, Christopher A Walsh
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Copy Number Variants and Pharmacogenomics
Pharmacogenomics, 2005The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we
Karim, Ouahchi +2 more
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2011
The progression of cytogenetics from banded chromosomes to DNA segment dosage as detected by comparative genomic hybridization-microarray analysis (aCGH, also abbreviated as CMA) has greatly increased the frequency of positive findings and difficulties of interpretation. The technique of aCGH (Fig.
Herman E. Wyandt, Vijay S. Tonk
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The progression of cytogenetics from banded chromosomes to DNA segment dosage as detected by comparative genomic hybridization-microarray analysis (aCGH, also abbreviated as CMA) has greatly increased the frequency of positive findings and difficulties of interpretation. The technique of aCGH (Fig.
Herman E. Wyandt, Vijay S. Tonk
openaire +1 more source
Copy number variants and fetal growth in stillbirths
American Journal of Obstetrics and Gynecology, 2023Fetal growth abnormalities are associated with a higher incidence of stillbirth, with small and large for gestational age infants incurring a 3 to 4- and 2 to 3-fold increased risk, respectively. Although clinical risk factors such as diabetes, hypertension, and placental insufficiency have been associated with fetal growth aberrations and stillbirth ...
Susan E. Dalton +9 more
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