Results 261 to 270 of about 9,740,536 (302)

Copy Number Variants and Pharmacogenomics

Pharmacogenomics, 2005
The 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, Neal, Lindeman, Charles, Lee   +2 more
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Copy number variants and fetal growth in stillbirths

American Journal of Obstetrics and Gynecology, 2023
Fetal 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, Tsegaselassie Workalemahu, Amanda A. Allshouse, Jessica M. Page, Uma M. Reddy, George R. Saade, Halit Pinar, Robert L. Goldenberg, Donald J. Dudley, Robert M. Silver   +9 more
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An evolving view of copy number variants

Current Genetics, 2019
Copy 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, David Gresham
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Somatic copy number variants in neuropsychiatric disorders

Current Opinion in Genetics & Development, 2021
Copy 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

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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Copy Number Variants, Aneuploidies, and Human Disease [PDF]

Clinics in Perinatology, 2015
In the perinatal setting, chromosome imbalances cause a range of clinically significant disorders and increase the risk for other particular phenotypes. As technologies have improved to detect increasingly smaller deletions and duplications, collectively referred to as copy number variants (CNVs), clinicians are learning the significant role that these
David H. Ledbetter, Christa Lese Martin
exaly   +3 more sources

Prenatal detection of copy number variants

Best Practice & Research Clinical Obstetrics & Gynaecology
Prenatal detection of copy number variants (CNVs) plays an important role in the diagnosis of fetal genetic abnormalities. Understanding the methods used for prenatal CNV detection and their clinical significance contributes to the implementation of advanced genetic screening techniques in prenatal care; facilitating early identification and management
Mohamed, Wafik, Alice, Pendlebury-Watt, Kelly, Price, Charlotte, Tomlinson, Emma, Fowler, Natalie, Chandler, Muriel, Holder-Espinasse   +6 more
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Copy Number Variants

Abstract Knowing what is “normal” and what is not is a particular challenge in this era of molecular karyotyping. This chapter discusses the concept of the copy number variant (CNV) and how the harmlessness, or not, of a CNV may be assessed, including the nuanced concept of penetrance as it is applied to neurodevelopmental phenotypes.
David J. Amor, R. J. McKinlay Gardner
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Copy number variants in autism spectrum disorders

Progress in Neuro-Psychopharmacology and Biological Psychiatry, 2019
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 developed to explore the complex genetic component of ASD.
Vicari S., Napoli E., Cordeddu V., Menghini D., Alesi V., Loddo S., Novelli A., Tartaglia M.   +7 more
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