Results 11 to 20 of about 10,451,845 (193)
Copy Number Variations and Schizophrenia [PDF]
Molecular Neurobiology, 2023 Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors involved in its aetiology. Genetic liability contributing to the development of schizophrenia is a subject of extensive research activity, as reliable data regarding ...
Łaczmańska, Izabela +4 more
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Copy Number Variations in Neuropsychiatric Disorders
International Journal of Molecular Sciences, 2023 Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances in recent years have improved our understanding of the genetic architecture of the ...
Kinga Hadzsiev +2 more
core +3 more sources
Copy number variations of five Y chromosome genes in donkeys [PDF]
Archives Animal Breeding, 2017 In mammals, the Y chromosome plays a pivotal role in male sex determination and is essential for normal sperm production. A number of studies were conducted on Y chromosome genes of various species and identified single-copy and multi-copy genes ...
H. Han +5 more
doaj +3 more sources
Eight Y chromosome genes show copy number variations in horses [PDF]
Archives Animal Breeding, 2018 Copy number variations (CNVs), which represent a significant source of genetic diversity on the Y chromosome in mammals, have been shown to be associated with the development of many complex phenotypes, such as reproduction and male fertility.
H. Han +6 more
doaj +3 more sources
Identification and characterization of disease-related copy number variations (CNVs) by high-dense SNP oligonucleotide microarrays [PDF]
, 2012 Genomic microarray analysis is rapidly replacing conventional chromosome analysis by molecular karyotyping due to the significant increase in the power to detect causative CNVs.
Rivera Brugués, Núria
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Copy number variation and neuropsychiatric illness [PDF]
Current Opinion in Genetics & Development, 2021 Copy number variants (CNVs) at specific loci have been identified as important risk factors for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder, intellectual disability (ID) and depression. These CNVs are individually rare (
Rees, Elliott, Kirov, George
openaire +2 more sources
Copy number variations and stroke [PDF]
Neurological Sciences, 2016 Stroke is the third leading cause of death worldwide after heart disease and all forms of cancers. Monogenic disorders, genetic, and environmental risk factors contribute to damaging cerebral blood vessels and, consequently, cause stroke. Developments in genomic research led to the discovery of numerous copy number variants (CNVs) that have been ...
Colaianni V, Mazzei R, Cavallaro S
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A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region [PDF]
, 2022 The human genome contains repetitive regions, such as segmental duplications, known to be prone to copy number variation. Segmental duplications are highly identical and homologous sequences, posing a specific challenge for most mutation detection ...
Kiiski, Kirsi +4 more
core +1 more source
Copy Number Variation in Schizophrenia [PDF]
Neuropsychopharmacology, 2014 Copy number variation contributes substantially to human evolution, normal phenotypic variation, and human disease (Malhotra and Sebat, 2012). To date, thousands of different genomic duplications and deletions, each spanning hundreds to millions of basepairs, have been mapped genome-wide, and collectively account for a significant fraction of human ...
Suleyman, Gulsuner, Jon M, McClellan
openaire +2 more sources
Scientific Journal of King Faisal University: Basic and Applied Sciences, 2022 The heterogeneity of ovarian cancer (Ov Ca) is attributed to multiple genetic and epigenetic changes, rendering it difficult to detect the most relevant molecular alterations.
Heba Mohammed Tawfik +7 more
doaj +1 more source