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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG. Sanna-Cherchi S, et al. Among authors: westland r. Am J Hum Genet. 2017 Dec 7;101(6):1034. doi: 10.1016/j.ajhg.2017.11.003. Am J Hum Genet. 2017. PMID: 29220675 Free PMC article. No abstract available.
Clinical implications of the solitary functioning kidney.
Westland R, Schreuder MF, van Goudoever JB, Sanna-Cherchi S, van Wijk JA. Westland R, et al. Clin J Am Soc Nephrol. 2014 May;9(5):978-86. doi: 10.2215/CJN.08900813. Epub 2013 Dec 26. Clin J Am Soc Nephrol. 2014. PMID: 24370773 Free PMC article. Review.
Phenotypic expansion of DGKE-associated diseases.
Westland R, Bodria M, Carrea A, Lata S, Scolari F, Fremeaux-Bacchi V, D'Agati VD, Lifton RP, Gharavi AG, Ghiggeri GM, Sanna-Cherchi S. Westland R, et al. J Am Soc Nephrol. 2014 Jul;25(7):1408-14. doi: 10.1681/ASN.2013080886. Epub 2014 Feb 7. J Am Soc Nephrol. 2014. PMID: 24511134 Free PMC article.
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.
Westland R, Verbitsky M, Vukojevic K, Perry BJ, Fasel DA, Zwijnenburg PJ, Bökenkamp A, Gille JJ, Saraga-Babic M, Ghiggeri GM, D'Agati VD, Schreuder MF, Gharavi AG, van Wijk JA, Sanna-Cherchi S. Westland R, et al. Kidney Int. 2015 Dec;88(6):1402-1410. doi: 10.1038/ki.2015.239. Epub 2015 Sep 9. Kidney Int. 2015. PMID: 26352300 Free PMC article.
67 results