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Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Nephrol Dial Transplant. 2022 Mar 25;37(4):687-696. doi: 10.1093/ndt/gfab019.
Nephrol Dial Transplant. 2022.
PMID: 33532864
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Bullich G, Domingo-Gallego A, Vargas I, Ruiz P, Lorente-Grandoso L, Furlano M, Fraga G, Madrid Á, Ariceta G, Borregán M, Piñero-Fernández JA, Rodríguez-Peña L, Ballesta-Martínez MJ, Llano-Rivas I, Meñica MA, Ballarín J, Torrents D, Torra R, Ars E.
Bullich G, et al. Among authors: domingo gallego a.
Kidney Int. 2018 Aug;94(2):363-371. doi: 10.1016/j.kint.2018.02.027. Epub 2018 May 22.
Kidney Int. 2018.
PMID: 29801666
Free article.
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Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.
Domingo-Gallego A, Pybus M, Madariaga L, Piñero-Fernández JA, González-Pastor S, López-González M, Simarro-Rueda E, Quintanilla-Mata ML, Matoses-Ruipérez ML, Ejarque-Vila L, Cornec-Le Gall E, Guirado L, Torra R, Ariceta G, Ars E.
Domingo-Gallego A, et al.
Nephrol Dial Transplant. 2022 Sep 22;37(10):1906-1915. doi: 10.1093/ndt/gfab285.
Nephrol Dial Transplant. 2022.
PMID: 34610128
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Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
Domingo-Gallego A, Furlano M, Pybus M, Barraca D, Martínez AB, Mora Muñoz E, Torra R, Ars E.
Domingo-Gallego A, et al.
BMC Nephrol. 2019 Apr 11;20(1):126. doi: 10.1186/s12882-019-1317-y.
BMC Nephrol. 2019.
PMID: 30975089
Free PMC article.
Review.
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Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.
Ammar S, Kanoun H, Kammoun K, Domingo-Gallego A, Ruiz P, Lorente-Grandoso L, Pybus M, Maalej B, Boudawara T, Kamoun H, Ben Hmida M, Ars E, Jarraya F.
Ammar S, et al. Among authors: domingo gallego a.
J Hum Genet. 2021 Aug;66(8):795-803. doi: 10.1038/s10038-021-00912-2. Epub 2021 Mar 2.
J Hum Genet. 2021.
PMID: 33654185
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