Results 1 to 10 of about 475,380 (299)

Copy number variants in Ebstein anomaly. [PDF]

PLoS ONE, 2017
Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with
Andreas Giannakou, Robert J Sicko, Wei Zhang, Paul Romitti, Marilyn L Browne, Michele Caggana, Lawrence C Brody, Laura Jelliffe-Pawlowski, Gary M Shaw, Denise M Kay, James L Mills   +10 more
doaj   +4 more sources

Copy Number Variants in Four Italian Turkey Breeds [PDF]

Animals, 2021
Heritage breeds can be considered a genetic reservoir of genetic variability to be conserved and valorized considering their historical, cultural, and adaptive characteristics and possibly for their high potential in commercial hybrid genetic improvement
Maria Giuseppina Strillacci, Stefano Paolo Marelli, Raffaella Milanesi, Luisa Zaniboni, Chiara Punturiero, Silvia Cerolini   +5 more
doaj   +3 more sources

Bias of selection on human copy-number variants. [PDF]

PLoS Genetics, 2006
Although large-scale copy-number variation is an important contributor to conspecific genomic diversity, whether these variants frequently contribute to human phenotype differences remains unknown.
Duc-Quang Nguyen, Caleb Webber, Chris P Ponting   +2 more
doaj   +5 more sources

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study [PDF]

Annals of Clinical and Translational Neurology
Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood.
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
doaj   +2 more sources

Copy number variants in the kallikrein gene cluster. [PDF]

PLoS ONE, 2013
The kallikrein gene family (KLK1-KLK15) is the largest contiguous group of protease genes within the human genome and is associated with both risk and outcome of cancer and other diseases.
Pernilla Lindahl, Torbjörn Säll, Anders Bjartell, Anna M Johansson, Hans Lilja, Christer Halldén   +5 more
doaj   +8 more sources

ClassifyCNV: a tool for clinical annotation of copy-number variants

Scientific Reports, 2020
Copy-number variants (CNVs) are an important part of human genetic variation. They can be benign or can play a role in human disease by creating dosage imbalances and disrupting genes and regulatory elements.
Tatiana A. Gurbich, Valery Vladimirovich Ilinsky   +1 more
doaj   +2 more sources

Copy number variants in German patients with schizophrenia. [PDF]

PLoS ONE, 2013
Large rare copy number variants (CNVs) have been recognized as significant genetic risk factors for the development of schizophrenia (SCZ). However, due to their low frequency (1∶150 to 1∶1000) among patients, large sample sizes are needed to detect an ...
Lutz Priebe, Franziska Degenhardt, Jana Strohmaier, René Breuer, Stefan Herms, Stephanie H Witt, Per Hoffmann, Rebecca Kulbida, Manuel Mattheisen, Susanne Moebus, Andreas Meyer-Lindenberg, Henrik Walter, Rainald Mössner, Igor Nenadic, Heinrich Sauer, Dan Rujescu, Wolfgang Maier, Marcella Rietschel, Markus M Nöthen, Sven Cichon   +19 more
doaj   +6 more sources

Rare copy-number variants as modulators of common disease susceptibility

Genome Medicine
Background Copy-number variations (CNVs) have been associated with rare and debilitating genomic disorders (GDs) but their impact on health later in life in the general population remains poorly described.
Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Sven Ojavee, Charlie J. Clark, Reedik Mägi, Estonian Biobank Research Team, Alexandre Reymond, Zoltán Kutalik   +9 more
doaj   +2 more sources

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   +3 more sources

Population-Based Risk of Psychiatric Disorders Associated With Recurrent Copy Number Variants.

JAMA Psychiatry
This genetic association study assesses data from a case-cohort sample of individuals born in Denmark to provide population-based estimates of prevalence and risk associated with psychiatric disorders for recurrent copy number variants.
Vaez M, Montalbano S, Calle Sánchez X, Georgii Hellberg KL, Dehkordi SR, Krebs MD, Meijsen J, Shorter J, Bybjerg-Grauholm J, Mortensen PB, Børglum AD, Hougaard DM, Nordentoft M, Geschwind DH, Buil A, Schork AJ, Helenius D, Raznahan A, Thompson WK, Werge T, Ingason A, iPSYCH Investigators.   +21 more
europepmc   +2 more sources