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Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.
Hopp K, Cornec-Le Gall E, Senum SR, Te Paske IBAW, Raj S, Lavu S, Baheti S, Edwards ME, Madsen CD, Heyer CM, Ong ACM, Bae KT, Fatica R, Steinman TI, Chapman AB, Gitomer B, Perrone RD, Rahbari-Oskoui FF, Torres VE; HALT Progression of Polycystic Kidney Disease Group, the ADPKD Modifier Study; Harris PC. Hopp K, et al. Kidney Int. 2020 Feb;97(2):370-382. doi: 10.1016/j.kint.2019.08.038. Epub 2019 Oct 9. Kidney Int. 2020. PMID: 31874800 Free PMC article.
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
Vujic M, Heyer CM, Ars E, Hopp K, Markoff A, Orndal C, Rudenhed B, Nasr SH, Torres VE, Torra R, Bogdanova N, Harris PC. Vujic M, et al. Among authors: hopp k. J Am Soc Nephrol. 2010 Jul;21(7):1097-102. doi: 10.1681/ASN.2009101070. Epub 2010 Jun 17. J Am Soc Nephrol. 2010. PMID: 20558538 Free PMC article.
The mutation, a key determinant of phenotype in ADPKD.
Harris PC, Hopp K. Harris PC, et al. Among authors: hopp k. J Am Soc Nephrol. 2013 May;24(6):868-70. doi: 10.1681/ASN.2013040417. Epub 2013 May 16. J Am Soc Nephrol. 2013. PMID: 23687354 No abstract available.
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
Paul BM, Consugar MB, Ryan Lee M, Sundsbak JL, Heyer CM, Rossetti S, Kubly VJ, Hopp K, Torres VE, Coto E, Clementi M, Bogdanova N, de Almeida E, Bichet DG, Harris PC. Paul BM, et al. Among authors: hopp k. Kidney Int. 2014 Feb;85(2):383-92. doi: 10.1038/ki.2013.227. Epub 2013 Jun 12. Kidney Int. 2014. PMID: 23760289 Free PMC article.
74 results