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Copy number variation

DNA copy number variations in children with vesicoureteral reflux and urinary tract infections

Dong Liang, Kirk M. McHugh, Pat D. Brophy, Nader Shaikh, J. Robert Manak, Peter Andrews, Inessa Hakker, Zihua Wang, Andrew L. Schwaderer, David S. Hains

published 12 Aug 2019

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Association between polymorphisms in the SOX9 region and canine disorder of sex development (78,XX; SRY-negative) revisited in a multibreed case-control study

Joanna Nowacka-Woszuk, Izabela Szczerbal, Monika Stachowiak, Maciej Szydlowski, Wojciech Nizanski, Stanislaw Dzimira, Artur Maslak, Rita Payan-Carreira, Eline Wydooghe, Tomasz Nowak, Marek Switonski

published 20 Jun 2019

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Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease

Svetlana Frenkel, Charles N. Bernstein, Michael Sargent, Qin Kuang, Wenxin Jiang, John Wei, Bhooma Thiruvahindrapuram, Elizabeth Spriggs, Stephen W. Scherer, Pingzhao Hu

published 11 Jun 2019

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Multiple strain infection of Mycobacterium leprae in a family having 4 patients: A study employing short tandem repeats

Partha Sarathi Mohanty, Avi Kumar Bansal, Farah Naaz, Mamta Arora, Umesh Datta Gupta, Pushpa Gupta, Sandeep Sharma, Haribhan Singh

published 04 Apr 2019

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Copy number variation study in Japanese quail associated with stress related traits using whole genome re-sequencing data

Bhuwan Khatri, Seong Kang, Stephanie Shouse, Nicholas Anthony, Wayne Kuenzel, Byungwhi C. Kong

published 28 Mar 2019

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Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma

Julia González-Rincón, Miriam Méndez, Sagrario Gómez, Juan F. García, Paloma Martín, Carmen Bellas, Lucía Pedrosa, Socorro M. Rodríguez-Pinilla, Francisca I. Camacho, Cristina Quero, David Pérez-Callejo, Antonio Rueda, Marta Llanos, José Gómez-Codina, Miguel A. Piris, Santiago Montes-Moreno, Carmen Bárcena, Delvys Rodríguez-Abreu, Javier Menárguez, Luis de la Cruz-Merino, Silvia Monsalvo, Consuelo Parejo, Ana Royuela, Ivo Kwee, Luciano Cascione, Alberto Arribas, Francesco Bertoni, Manuela Mollejo, Mariano Provencio, Margarita Sánchez-Beato

published 25 Feb 2019

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Increasing the diagnostic yield of exome sequencing by copy number variant analysis

Daniel S. Marchuk, Kristy Crooks, Natasha Strande, Kathleen Kaiser-Rogers, Laura V. Milko, Alicia Brandt, Alexandra Arreola, Christian R. Tilley, Chris Bizon, Neeta L. Vora, Kirk C. Wilhelmsen, James P. Evans, Jonathan S. Berg

published 17 Dec 2018

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Copy number variation in the susceptibility to systemic lupus erythematosus

Fernanda Bueno Barbosa, Milena Simioni, Cláudia Emília Vieira Wiezel, Fábio Rossi Torres, Miriam Coelho Molck, Melvin M. Bonilla, Tânia Kawasaki de Araujo, Eduardo Antônio Donadi, Vera Lúcia Gil-da-Silva-Lopes, Bernardo Lemos, Aguinaldo Luiz Simões

published 28 Nov 2018

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In silico identification of conserved miRNAs and their selective target gene prediction in indicine (Bos indicus) cattle

Quratulain Hanif, Muhammad Farooq, Imran Amin, Shahid Mansoor, Yi Zhang, Qaiser Mahmood Khan

published 26 Oct 2018

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Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

Fabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, Sylvain Hanein, Marie-Claude Stolzenberg, Zhi Li, Sandra Pellegrini, Nicolas Garcelon, Marc Jeanpierre, Bénédicte Neven, Isabelle Loge, Capucine Picard, Jérémie Rosain, Jacinta Bustamante, Marc Le Lorc’h, Bénédicte Pigneur, Alicia Fernandes, GENIUS Group , Frédéric Rieux-Laucat, Jorge Amil Dias, Frank M. Ruemmele, Nadine Cerf-Bensussan

published 26 Oct 2018

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Detection of genetic alterations in gastric cancer patients from Saudi Arabia using comparative genomic hybridization (CGH)

Fehmida Bibi, Isse Ali, Muhammad Imran Naseer, Hussein Sheikh Ali Mohamoud, Muhammad Yasir, Sana Akhtar Alvi, Asif Ahmed Jiman-Fatani, Ali Sawan, Esam Ibraheem Azhar

published 13 Sep 2018

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A population genomic characterization of copy number variation in the opportunistic fungal pathogen Aspergillus fumigatus

Shu Zhao, John G. Gibbons

published 02 Aug 2018

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A remark on copy number variation detection methods

Shuo Li, Xialiang Dou, Ruiqi Gao, Xinzhou Ge, Minping Qian, Lin Wan

published 27 Apr 2018

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