Results 51 to 60 of about 253,893 (144)

Rare copy number variation in autoimmune Addison’s disease

Frontiers in Immunology
Autoimmune Addison’s disease (AAD) is a rare but life-threatening endocrine disorder caused by an autoimmune destruction of the adrenal cortex. A previous genome-wide association study (GWAS) has shown that common variants near immune-related genes ...
Haydee Artaza, Haydee Artaza, Daniel Eriksson, Daniel Eriksson, Ksenia Lavrichenko, Ksenia Lavrichenko, Maribel Aranda-Guillén, Eirik Bratland, Eirik Bratland, Eirik Bratland, Marc Vaudel, Marc Vaudel, Marc Vaudel, Per Knappskog, Per Knappskog, Eystein S. Husebye, Eystein S. Husebye, Sophie Bensing, Sophie Bensing, Anette S. B. Wolff, Anette S. B. Wolff, Anette S. B. Wolff, Olle Kämpe, Ellen C. Røyrvik, Ellen C. Røyrvik, Ellen C. Røyrvik, Stefan Johansson, Stefan Johansson   +27 more
doaj   +1 more source

A comparison of genomic copy number calls by Partek Genomics Suite, Genotyping Console and Birdsuite algorithms to quantitative PCR

BioData Mining, 2011
Background Copy number variants are >1 kb genomic amplifications or deletions that can be identified using array platforms. However, arrays produce substantial background noise that contributes to high false discovery rates of variants.
Grayson Britney L, Aune Thomas M
doaj   +1 more source

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts [PDF]

, 2022
Giuliana Giannuzzi, Nicolas Chatron, Katrin Männik, Chiara Auwerx, Sylvain Pradervand, Gilles Willemin, Kendra Hoekzema, Xander Nuttle, Jacqueline Chrast, Marie C. Sadler, Eleonora Porcu, Katrin Männik, Damien Sanlaville, Caroline Schluth‐Bolard, Cédric Le Caignec, Mathilde Nizon, Sandra Mariel Martin, Sébastien Jacquemont, Armand Bottani, Marion Gérard, Sacha Weber, Aurélia Jacquette, Catherine Vincent-Delorme, Aurora Currò, Francesca Mari, Alessandra Renieri, Alfredo Brusco, Giovanni Battista Ferrero, Yann Hérault, Bertrand Isidor, Brigitte Gilbert‐Dussardier, Evan E. Eichler, Zoltán Kutalik, Alexandre Reymond   +33 more
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Rare copy number deletions predict individual variation in intelligence.

PLoS ONE, 2011
Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible ...
Ronald A Yeo, Steven W Gangestad, Jingyu Liu, Vince D Calhoun, Kent E Hutchison   +4 more
doaj   +1 more source

The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges [PDF]

, 2013
Boon‐Peng Hoh, Khalid Yusoff
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Copy number variation in MODY diabetes - Familial case presentation

Genetics & Applications, 2018
MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion.
Naida Lojo-Kadric, Zelija Velija Asimi, Jasmin Ramic, Ksenija Radic, Lejla Pojskic   +4 more
doaj   +1 more source

Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal age [PDF]

, 2023
yunyun liu, Sha Liu, Jianlong Liu, Ting Bai, Xiaosha Jing, Cechuan Deng, Tianyu Xia, Jing Cheng, Lingling Xing, Xiangjin Wei, Yuan Luo, Quanfang Zhou, Dan Xie, Yueyue Xiong, Ling Liu, Qian Zhu, Hongqian Liu   +16 more
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Copy Number Variations in the Human Genome: Potential Source for Individual Diversity and Disease Association Studies [PDF]

, 2008
Tae‐Min Kim, Seon‐Hee Yim, Yeun‐Jun Chung   +2 more
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Functional and population genetic features of copy number variations in two dairy cattle populations [PDF]

, 2019
Young-Lim Lee, Mirte Bosse, Erik Mullaart, Martien A. M. Groenen, R.F. Veerkamp, A.C. Bouwman   +5 more
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Burden of copy number variation in common variable immunodeficiency [PDF]

, 2013
Michael D. Keller, Joseph Glessner, Eric Resnick, Elena Pérez, Helen Chapel, Mary Lucas, Kathleen E. Sullivan, Charlotte Cunningham‐Rundles, Jordan S. Orange, Håkon Håkonarson   +9 more
openalex   +1 more source