Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 et...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Burgess, Katelyn E., Bodria, Monica, Sampson, Matthew G., Hadley, Dexter, Nees, Shannon N., Verbitsky, Miguel, Perry, Brittany J., Sterken, Roel, Lozanovski, Vladimir J., Materna-Kiryluk, Anna, Barlassina, Cristina, Kini, Akshata, Corbani, Valentina, Carrea, Alba, Somenzi, Danio, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Izzi, Claudia, Bianco, Beatrice, Zaniew, Marcin, Flogelova, Hana, Weng, Patricia L., Kacak, Nilgun, Giberti, Stefania, Gigante, Maddalena, Arapovic, Adela, Drnasin, Kristina, Caridi, Gianluca, Curioni, Simona, Allegri, Franca, Ammenti, Anita, Ferretti, Stefania, Goj, Vinicio, Bernardo, Luca, Jobanputra, Vaidehi, Chung, Wendy K., Lifton, Richard P., Sanders, Stephan, State, Matthew, Clark, Lorraine N., Saraga, Marijan, Padmanabhan, Sandosh, Dominiczak, Anna F., Foroud, Tatiana, Gesualdo, Loreto, Gucev, Zoran, Allegri, Landino, Latos-Bielenska, Anna, Cusi, Daniele, Scolari, Francesco, Tasic, Velibor, Hakonarson, Hakon, Ghiggeri, Gian Marco, Gharavi, Ali G.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3516596/
https://ncbi.nlm.nih.gov/pubmed/23159250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.10.007
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados