Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux

BACKGROUND: Vesicoureteral reflux (VUR) is a common, familial genitourinary disorder, and a major cause of pediatric urinary tract infection (UTI) and kidney failure. The genetic basis of VUR is not well understood. METHODS: A diagnostic analysis sought rare, pathogenic copy number variant (CNV) dis...

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Опубликовано в: :J Am Soc Nephrol
Главные авторы: Verbitsky, Miguel, Krithivasan, Priya, Batourina, Ekaterina, Khan, Atlas, Graham, Sarah E., Marasà, Maddalena, Kim, Hyunwoo, Lim, Tze Y., Weng, Patricia L., Sánchez-Rodríguez, Elena, Mitrotti, Adele, Ahram, Dina F., Zanoni, Francesca, Fasel, David A., Westland, Rik, Sampson, Matthew G., Zhang, Jun Y., Bodria, Monica, Kil, Byum Hee, Shril, Shirlee, Gesualdo, Loreto, Torri, Fabio, Scolari, Francesco, Izzi, Claudia, van Wijk, Joanna A.E., Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Barton, David E., Dobson, Mark G., Puri, Prem, Furth, Susan L., Warady, Bradley A., Pisani, Isabella, Fiaccadori, Enrico, Allegri, Landino, Degl'Innocenti, Maria Ludovica, Piaggio, Giorgio, Alam, Shumyle, Gigante, Maddalena, Zaza, Gianluigi, Esposito, Pasquale, Lin, Fangming, Simões-e-Silva, Ana Cristina, Brodkiewicz, Andrzej, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Szczepanska, Maria, Adamczyk, Piotr, Tkaczyk, Marcin, Tomczyk, Daria, Sikora, Przemyslaw, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Lozanovski, Vladimir J., Gucev, Zoran, Ionita-Laza, Iuliana, Stanaway, Ian B., Crosslin, David R., Wong, Craig S., Hildebrandt, Friedhelm, Barasch, Jonathan, Kenny, Eimear E., Loos, Ruth J.F., Levy, Brynn, Ghiggeri, Gian Marco, Hakonarson, Hakon, Latos-Bieleńska, Anna, Materna-Kiryluk, Anna, Darlow, John M., Tasic, Velibor, Willer, Cristen, Kiryluk, Krzysztof, Sanna-Cherchi, Simone, Mendelsohn, Cathy L., Gharavi, Ali G.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society of Nephrology 2021
Предметы:
Basic Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8017540/
https://ncbi.nlm.nih.gov/pubmed/33597122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2020050681
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