Results 11 to 20 of about 181,134 (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, Emilio Sacchetti, Michele Traversa, Paolo Valsecchi, Rita Gardella, Cristian Bonvicini, Alessandra Minelli, Massimo Gennarelli, Sergio Barlati   +8 more
doaj   +5 more sources

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, Wenxu Dong, Qinjuan Wu, Xiaomin Huang, Xiaomei Zeng, Jing Yang, Jiaojiao Lu, Xunyan Chen, Xian Zheng, Xianguo Fu   +9 more
exaly   +3 more sources

Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series [PDF]

Molecular Genetics & Genomic Medicine
Background 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
doaj   +2 more sources

Copy number variations in the Brazilian High-Risk Cohort for Mental Conditions [PDF]

Brazilian Journal of Psychiatry
Objective: 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, Malú Zamariolli, Liriel Almodobar, Lucas Toshio Ito, Rafaella Ormond, Adrielle M. Oliveira, Vanessa Kiyomi Ota, Luis Augusto Rohde, Euripedes Constantino Miguel, Pedro Mario Pan, Rodrigo Affonseca Bressan, Giovanni Salum, Sintia Belangero, Marcos Leite Santoro   +13 more
doaj   +2 more sources

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, Błażej Misiak, Izabela Łaczmańska, Dorota Frydecka, Ahmed A. Moustafa   +4 more
openaire   +3 more sources

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

Analysis of copy number variations and possible candidate genes in spontaneous abortion by copy number variation sequencing

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, Qi Zhang, Zhi Lin, Jin Ye, Xiaoqi Shen, Linshuang Zhou, Wenpin Cai   +6 more
doaj   +1 more source

Copy Number Variation in Domestication [PDF]

Trends in Plant Science, 2019
Domesticated plants have long served as excellent models for studying evolution. Many genes and mutations underlying important domestication traits have been identified, and most causal mutations appear to be SNPs. Copy number variation (CNV) is an important source of genetic variation that has been largely neglected in studies of domestication ...
Zoe N, Lye, Michael D, Purugganan
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
openaire   +4 more sources

Copy number variations and cancer [PDF]

Genome Medicine, 2009
DNA copy number variations (CNVs) are an important component of genetic variation, affecting a greater fraction of the genome than single nucleotide polymorphisms (SNPs). The advent of high-resolution SNP arrays has made it possible to identify CNVs. Characterization of widespread constitutional (germline) CNVs has provided insight into their role in ...
Shlien, Adam, Malkin, David
openaire   +2 more sources