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2002 2
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Page 1
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Mohney BG, Pulido JS, Lindor NM, Hogan MC, Consugar MB, Peters J, Pankratz VS, Nasr SH, Smith SJ, Gloor J, Kubly V, Spencer D, Nielson R, Puffenberger EG, Strauss KA, Morton DH, Eldahdah L, Harris PC. Mohney BG, et al. Ophthalmology. 2011 Jun;118(6):1137-44. doi: 10.1016/j.ophtha.2010.10.009. Epub 2011 Jan 13. Ophthalmology. 2011. PMID: 21236492 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. 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.
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. 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
14 results