Results 1 to 10 of about 190,844 (114)
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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Identification of Copy Number Variations and Genetic Diversity in Italian Insular Sheep Breeds
Animals, 2022 Copy number variants (CNVs) are one of the major contributors to genetic diversity and phenotypic variation in livestock. The aim of this work is to identify CNVs and perform, for the first time, a CNV-based population genetics analysis with five Italian
Rosalia Di Gerlando +7 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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Genome-wide association study of copy number variations in Parkinson’s disease [PDF]
npj Parkinson's DiseaseWe investigated the role of copy number variations (CNVs) in Parkinson’s disease (PD) using genotyping data from 10,815 patients (2731 early-onset PD, EOPD) and 8901 controls from the COURAGE-PD consortium.
Zied Landoulsi +85 more
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Potential Value of Genomic Copy Number Variations in Schizophrenia
Frontiers in Molecular Neuroscience, 2017 Schizophrenia is a devastating neuropsychiatric disorder affecting approximately 1% of the global population, and the disease has imposed a considerable burden on families and society.
Chuanjun Zhuo +6 more
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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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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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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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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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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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