Results 21 to 30 of about 517,834 (299)

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

Copy Number Variants in Epileptic Encephalopathy

Pediatric Neurology Briefs, 2012
An international group of investigators at University of Washington, Seattle, USA, and various centers in Australia, New Zealand, Canada, and Israel evaluated 315 patients with epileptic encephalopathies for rare copy number variants (CNVs) using a whole-
J Gordon Millichap
doaj   +1 more source

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates. [PDF]

, 2020
Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP)
Aldana, Ileana, Araya, Carmen, Araya, Xinia, Bearden, Carrie E, Bedoya, Gabriel, Bejarano, Julio, Cantor, Rita M, Castrillón, Gabriel, Coppola, Giovanni, Escobar, Javier I, Fears, Scott C, Freimer, Nelson B, Gomez-Makhinson, Juliana, Huang, Alden Y, Hwang, Sun-Goo, Kremeyer, Barbara, Lopez, Maria C, Lopez-Jaramillo, Carlos, Macaya, Gabriel, Molina, Julio, Montoya, Claudia P, Montoya, Gabriel, Mullins, Niamh, Olde Loohuis, Loes M, Ophoff, Roel A, Ori, Anil PS, Ospina-Duque, Jorge, Park, YoungJun, Ramensky, Vasily, Ramirez, Margarita, Reus, Victor, Ruiz-Linares, Andres, Sabatti, Chiara, Service, Susan K, Spesny, Mitzi, Sul, Jae Hoon, Teshiba, Terri M, Zhang, Zhongyang   +37 more
core   +3 more sources

Copy number variants in locally raised Chinese chicken genomes determined using array comparative genomic hybridization [PDF]

, 2013
BACKGROUND: Copy number variants contribute to genetic variation in birds. Analyses of copy number variants in chicken breeds had focused primarily on those from commercial varieties with nothing known about the occurrence and diversity of copy number ...
Chungang Feng, Ming Tian, Ning Li, Suyun Fang, Xiaorong Gu, Xiaoxiang Hu, Yanqiang Wang   +6 more
core   +1 more source

A Review of Copy Number Variants in Inherited Neuropathies [PDF]

Current Genomics, 2018
The rapid development in the last 10-15 years of microarray technologies, such as oligonucleotide array Comparative Genomic Hybridization (CGH) and Single Nucleotide Polymorphisms (SNP) genotyping array, has improved the identification of fine chromosomal structural variants, ranging in length from kilobases (kb) to megabases (Mb), as an important ...
Salpietro V., Manole A., Efthymiou S., Houlden H.   +3 more
openaire   +4 more sources

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

Copy Number Variants in Alzheimer’s Disease

Journal of Alzheimer's Disease, 2016
Alzheimer’s disease (AD) is a devastating disease mainly afflicting elderly people, characterized by decreased cognition, loss of memory, and eventually death. Although risk and deterministic genes are known, major genetics research programs are underway to gain further insights into the inheritance of AD.
Cuccaro Denis, De Marco Elvira Valeria, Cittadella Rita, Cavallaro Sebastiano   +3 more
openaire   +5 more sources

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders

Frontiers in Genetics, 2020
Background: Both whole exome sequencing and copy number variants sequencing were applied to identify the genetic cause of rare pediatric disorders.
Xuyun Hu, Xuyun Hu, Xuyun Hu, Ruolan Guo, Ruolan Guo, Ruolan Guo, Jun Guo, Jun Guo, Jun Guo, Zhan Qi, Zhan Qi, Zhan Qi, Wei Li, Wei Li, Wei Li, Chanjuan Hao, Chanjuan Hao, Chanjuan Hao   +17 more
doaj   +1 more source

MYC amplifications are common events in childhood osteosarcoma

The Journal of Pathology: Clinical Research, 2021
Osteosarcoma, the most common primary malignant tumour of bone, affects both children and adults. No fundamental biological differences between paediatric and adult osteosarcoma are known.
Solange De Noon, Jannat Ijaz, Tim HH Coorens, Fernanda Amary, Hongtao Ye, Anna Strobl, Iben Lyskjær, Adrienne M Flanagan, Sam Behjati   +8 more
doaj   +1 more source

A hierarchical Bayesian model for inference of copy number variants and their association to gene expression [PDF]

, 2014
A number of statistical models have been successfully developed for the analysis of high-throughput data from a single source, but few methods are available for integrating data from different sources.
Cassese, Alberto, Falciani, Francesco, Guindani, Michele, Tadesse, Mahlet G., Vannucci, Marina   +4 more
core   +2 more sources