Results 21 to 30 of about 475,380 (299)

Lessons Learned From Neuroimaging Studies of Copy Number Variants: A Systematic Review.

Biological Psychiatry, 2021
Pathogenic copy number variants (CNVs) and aneuploidies alter gene dosage and are associated with neurodevelopmental psychiatric disorders such as autism spectrum disorder and schizophrenia.
C. Modenato, S. Martin-Brevet, C. Moreau, B. Rodríguez-Herreros, Kuldeep Kumar, Bogdan Draganski, I. Sønderby, S. Jacquemont   +7 more
semanticscholar   +1 more source

Copy number variants in pharmacogenetic genes [PDF]

Trends in Molecular Medicine, 2011
Variation in drug efficacy and toxicity remains an important clinical concern. Presently, single nucleotide polymorphisms (SNP) only explain a portion of this problem, even in situations where the pharmacological trait is clearly heritable. The Human CNV Project identified copy number variations (CNVs) across approximately 12% of the human genome, and ...
Yijing, He, Janelle M, Hoskins, Howard L, McLeod   +2 more
openaire   +2 more sources

Identification of copy number variants contributing to hallux valgus

Frontiers in Genetics, 2023
Hallux valgus is a common form of foot deformity, and genetic factors contribute substantially to the pathogenesis of hallux valgus deformity. We conducted a genetic study on the structural variants underlying familial hallux valgus using whole exome ...
Wentao Zhou, Jun Jia, Hui-Qi Qu, Feier Ma, Junyi Li, Xiaohui Qi, Xinyi Meng, Zhiyong Ding, Gang Zheng, Hakon Hakonarson, Hakon Hakonarson, Hakon Hakonarson, Xiantie Zeng, Jin Li, Qianghua Xia, Qianghua Xia   +15 more
doaj   +1 more source

Endometriosis is associated with rare copy number variants. [PDF]

PLoS ONE, 2014
Endometriosis is a complex gynecological condition that affects 6-10% of women in their reproductive years and is defined by the presence of endometrial glands and stroma outside the uterus.
Rakesh Chettier, Kenneth Ward, Hans M Albertsen   +2 more
doaj   +1 more source

Copy number variants in neurexin genes: phenotypes and mechanisms

Current Opinion in Genetics and Development, 2021
Neurexins are central to trans-synaptic cell adhesion and signaling during synapse specification and maintenance. The past two decades of human genetics research have identified structural variations in the neurexin gene family, in particular NRXN1 copy ...
M. Fuccillo, ChangHui Pak
semanticscholar   +1 more source

Mitochondrial DNA Haplogroups and Variants Predispose to Chagas Disease Cardiomyopathy

Hearts, 2023
Cardiomyopathies are major causes of heart failure. Chagas disease (CD) is caused by the parasite Trypanosoma cruzi, and it is endemic in Central and South America.
Frédéric Gallardo, Pauline Brochet, David Goudenège, João Paulo Silva Nunes, Pauline Andrieux, Barbara Maria Ianni, Amanda Farage Frade, Charles Mady, Ronaldo Honorato Barros Santos, Andreia Kuramoto, Samuel Steffen, Antonio Noedir Stolf, Pablo Pomerantzeff, Alfredo Inacio Fiorelli, Edimar Alcides Bocchi, Cristina Wide Pissetti, Bruno Saba, Fabrício C. Dias, Marcelo Ferraz Sampaio, Fabio Antônio Gaiotto, José Antonio Marin-Neto, Abílio Fragata, Ricardo Costa Fernandes Zaniratto, Sergio Siqueira, Giselle De Lima Peixoto, Fernando Bacal, Paula Buck, Rafael Ribeiro Almeida, Hui Tzu Lin-Wang, André Schmidt, Mario Hiroyuki Hirata, Eduardo Antonio Donadi, Alexandre Costa Pereira, Virmondes Rodrigues Junior, Martino Martinelli, Michel Naslavsky, Jorge Kalil, Vincent Procaccio, Edecio Cunha-Neto, Christophe Chevillard   +39 more
doaj   +1 more source

Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Genetics in Medicine, 2019
Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound ...
E. Riggs, Erica F Andersen, A. Cherry, S. Kantarci, H. Kearney, Ankita Patel, G. Raca, D. Ritter, S. South, E. Thorland, D. Pineda-Alvarez, S. Aradhya, C. Martin   +12 more
semanticscholar   +1 more source

Copy number variants outperform SNPs to reveal genotype-temperature association in a marine species

bioRxiv, 2020
Copy number variants (CNVs) are a major component of genotypic and phenotypic variation in genomes. Yet, our knowledge on genotypic variation and evolution is often limited to single nucleotide polymorphism (SNPs) and the role of CNVs has been overlooked
Yann Dorant, H. Cayuela, K. Wellband, M. Laporte, Quentin Rougemont, C. Mérot, Éric Normandeau, R. Rochette, L. Bernatchez   +8 more
semanticscholar   +1 more source

Association testing of copy number variants in schizophrenia and autism spectrum disorders

Journal of Neurodevelopmental Disorders, 2012
Background Autism spectrum disorders and schizophrenia have been associated with an overlapping set of copy number variant loci, but the nature and degree of overlap in copy number variants (deletions compared to duplications) between these two disorders
Crespi Bernard J, Crofts Helen J
doaj   +1 more source

On the frequency of copy number variants [PDF]

Bioinformatics, 2008
Abstract Motivation: Estimating the frequency distribution of copy number variants (CNVs) is an important aspect of the effort to characterize this new type of genetic variation. Currently, most studies report a strong skew toward low-frequency CNVs. In this article, our goal is to investigate the frequencies of CNVs.
Iuliana, Ionita-Laza, Nan M, Laird, Benjamin A, Raby, Scott T, Weiss, Christoph, Lange   +4 more
openaire   +2 more sources