Results 11 to 20 of about 9,740,536 (302)

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   +9 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 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   +2 more sources

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   +4 more sources

Mitochondrial Copy Number and D-Loop Variants in Pompe Patients

Cell Journal, 2016
Objective: Pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. Over the past two decades, mitochondrial abnormalities have been recognized as an important contributor to an array of ...
Fatemeh Bahreini, Massoud Houshmand, Mohammad Hossein Modaresi, Hassan Tonekaboni, Shahriar Nafissi, Ferdoss Nazarisi, Seyed Mohammad Akrami   +6 more
doaj   +1 more source

Psychopathology in adults with copy number variants [PDF]

Psychological Medicine, 2022
AbstractBackgroundCopy number variants (CNVs) have been associated with the risk of schizophrenia, autism and intellectual disability. However, little is known about their spectrum of psychopathology in adulthood.MethodsWe investigated the psychiatric phenotypes of adult CNV carriers and compared probands, who were ascertained through clinical genetics
Rachael L. Adams, Alister Baird, Jacqueline Smith, Nigel Williams, Marianne B. M. van den Bree, David E. J. Linden, Michael J. Owen, Jeremy Hall, Stefanie C. Linden   +8 more
openaire   +3 more sources

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact [PDF]

, 2022
Copy-number variants and structural variants (CNVs/SVs) drive many neurodevelopmental-related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex phenotypes, the overlap in phenotypic presentation between independent CNVs can ...
Commission on Novel Technologies for Neurodevelopmental Copy Number Variants
core   +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 0003   +4 more
openaire   +3 more sources

Identification of copy number variants in horses [PDF]

Genome Research, 2012
Copy number variants (CNVs) represent a substantial source of genetic variation in mammals. However, the occurrence of CNVs in horses and their subsequent impact on phenotypic variation is unknown. We performed a study to identify CNVs in 16 horses representing 15 distinct breeds (Equus caballus) and an individual gray donkey (Equus asinus) using a ...
Ryan, Doan, Noah, Cohen, Jessica, Harrington, Kylee, Veazey, Kylee, Veazy, Rytis, Juras, Gus, Cothran, Molly E, McCue, Loren, Skow, Scott V, Dindot   +9 more
openaire   +3 more sources

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