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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: consugar mb. 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.
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.
Consugar MB, Wong WC, Lundquist PA, Rossetti S, Kubly VJ, Walker DL, Rangel LJ, Aspinwall R, Niaudet WP, Ozen S, David A, Velinov M, Bergstralh EJ, Bae KT, Chapman AB, Guay-Woodford LM, Grantham JJ, Torres VE, Sampson JR, Dawson BD, Harris PC; CRISP Consortium. Consugar MB, et al. Kidney Int. 2008 Dec;74(11):1468-79. doi: 10.1038/ki.2008.485. Epub 2008 Sep 24. Kidney Int. 2008. PMID: 18818683 Free PMC article.
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, Bennett WM, Meyers CM, Walker DL, Bae K, Zhang QJ, Thompson PA, Miller JP, Harris PC; CRISP Consortium. Rossetti S, et al. Among authors: consugar mb. J Am Soc Nephrol. 2007 Jul;18(7):2143-60. doi: 10.1681/ASN.2006121387. Epub 2007 Jun 20. J Am Soc Nephrol. 2007. PMID: 17582161
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Hopp K, Heyer CM, Hommerding CJ, Henke SA, Sundsbak JL, Patel S, Patel P, Consugar MB, Czarnecki PG, Gliem TJ, Torres VE, Rossetti S, Harris PC. Hopp K, et al. Among authors: consugar mb. Hum Mol Genet. 2011 Jul 1;20(13):2524-34. doi: 10.1093/hmg/ddr151. Epub 2011 Apr 14. Hum Mol Genet. 2011. PMID: 21493627 Free PMC article.
Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease.
Harris PC, Bae KT, Rossetti S, Torres VE, Grantham JJ, Chapman AB, Guay-Woodford LM, King BF, Wetzel LH, Baumgarten DA, Kenney PJ, Consugar M, Klahr S, Bennett WM, Meyers CM, Zhang QJ, Thompson PA, Zhu F, Miller JP. Harris PC, et al. J Am Soc Nephrol. 2006 Nov;17(11):3013-9. doi: 10.1681/ASN.2006080835. Epub 2006 Oct 11. J Am Soc Nephrol. 2006. PMID: 17035604
29 results