Results 1 to 10 of about 176,003 (260)
New copy number variations in schizophrenia. [PDF]
PLoS ONE, 2010 Genome-wide screenings for copy number variations (CNVs) in patients with schizophrenia have demonstrated the presence of several CNVs that increase the risk of developing the disease and a growing number of large rare CNVs; the contribution of these ...
Chiara Magri +8 more
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Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series [PDF]
Molecular Genetics & Genomic MedicineBackground Williams‐Beuren syndrome (WBS; OMIM #194050), caused by 7q11.23 deletions, is well‐characterized postnatally, but prenatal manifestations remain poorly defined.
Jiong Yan, Ziyang Liu, Song Yi, Nian Liu
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Copy number variations in the Brazilian High-Risk Cohort for Mental Conditions [PDF]
Brazilian Journal of PsychiatryObjective: This study’s purpose was to characterize copy number variations in a Brazilian cohort regarding frequency and inheritance patterns and to determine the effect of copy number variations previously associated with mental health disorders on the
Júlia Arendt +13 more
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Copy Number Variations and Schizophrenia
Molecular Neurobiology, 2022 Abstract 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 its aetiology would enable the improvement of its therapy and the development of new methods ...
Kamila Szecówka +4 more
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Frontiers in Endocrinology, 2023 IntroductionEmbryonic chromosomal abnormalities represent a major causative factor in early pregnancy loss, highlighting the importance of understanding their role in spontaneous abortion.
Wei Bai +6 more
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Advanced maternal age: copy number variations and pregnancy outcomes
Frontiers in Genetics, 2023 Objective: Adverse pregnancy outcomes are closely related to advanced maternal age (AMA; age at pregnancy ≥35 years). Little research has been reported on aneuploid abnormalities and pathogenic copy number variations (CNVs) affecting pregnancy outcomes ...
Luoyuan Cao +9 more
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Analysis of gene mutations and clinical phenotypes in children with retinoblastoma
Di-san junyi daxue xuebao, 2020 Objective To analyze the characteristics of gene mutations and clinical phenotypes in children with retinoblastoma. Methods We performed molecular genetic screening in 23 children with sporadic retinoblastoma (bilateral in 4 and unilateral in 19 children)
LI Weiwei, LIU Danning, ZHOU Xiyuan
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aCNViewer: Comprehensive genome-wide visualization of absolute copy number and copy neutral variations. [PDF]
PLoS ONE, 2017 Copy number variations (CNV) include net gains or losses of part or whole chromosomal regions. They differ from copy neutral loss of heterozygosity (cn-LOH) events which do not induce any net change in the copy number and are often associated with ...
Victor Renault +8 more
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Frontiers in Veterinary Science, 2023 Understanding how genetic variants alter phenotypes is an essential aspect of genetic research. Copy number variations (CNVs), a type of prevalent genetic variation in the genome, have been the subject of extensive study for decades.
Xiangwei Tang +5 more
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A map of copy number variations in Chinese populations. [PDF]
PLoS ONE, 2011 It has been shown that the human genome contains extensive copy number variations (CNVs). Investigating the medical and evolutionary impacts of CNVs requires the knowledge of locations, sizes and frequency distribution of them within and between ...
Haiyi Lou +8 more
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