Lens XM - Search Results

1

Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK, Lan Z, Allen E, Qian F, Lens XM, Pei Y, Germino GG, Watnick TJ. Garcia-Gonzalez MA, et al. Among authors: lens xm. Mol Genet Metab. 2007 Sep-Oct;92(1-2):160-7. doi: 10.1016/j.ymgme.2007.05.004. Epub 2007 Jun 18. Mol Genet Metab. 2007. PMID: 17574468 Free PMC article.

2

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.

Watnick TJ, Piontek KB, Cordal TM, Weber H, Gandolph MA, Qian F, Lens XM, Neumann HP, Germino GG. Watnick TJ, et al. Among authors: lens xm. Hum Mol Genet. 1997 Sep;6(9):1473-81. doi: 10.1093/hmg/6.9.1473. Hum Mol Genet. 1997. PMID: 9285784

3

Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.

Reynolds DM, Hayashi T, Cai Y, Veldhuisen B, Watnick TJ, Lens XM, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning MH, Germino GG, Peters DJ, Somlo S. Reynolds DM, et al. Among authors: lens xm. J Am Soc Nephrol. 1999 Nov;10(11):2342-51. doi: 10.1681/ASN.V10112342. J Am Soc Nephrol. 1999. PMID: 10541293

4

Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.

Rezende-Lima W, Parreira KS, García-González M, Riveira E, Banet JF, Lens XM. Rezende-Lima W, et al. Among authors: lens xm. Kidney Int. 2004 Aug;66(2):558-63. doi: 10.1111/j.1523-1755.2004.00774.x. Kidney Int. 2004. PMID: 15253706 Free article.

5

An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region.

Lens XM, Onuchic LF, Wu G, Hayashi T, Daoust M, Mochizuki T, Santarina LB, Stockwin JM, Mücher G, Becker J, Sweeny WE Jr, Avner ED, Guay-Woodford L, Zerres K, Somlo S, Germino GG. Lens XM, et al. Genomics. 1997 May 1;41(3):463-6. doi: 10.1006/geno.1997.4671. Genomics. 1997. PMID: 9169147 Free article.

6

A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis.

Sanchez-Ares M, Garcia-Vidal M, Antucho EE, Julio P, Eduardo VM, Lens XM, Garcia-Gonzalez MA. Sanchez-Ares M, et al. Among authors: lens xm. Kidney Int. 2013 Jan;83(1):153-9. doi: 10.1038/ki.2012.325. Epub 2012 Sep 12. Kidney Int. 2013. PMID: 22971997 Free article.

7

Modifier effect of ENOS in autosomal dominant polycystic kidney disease.

Persu A, Stoenoiu MS, Messiaen T, Davila S, Robino C, El-Khattabi O, Mourad M, Horie S, Feron O, Balligand JL, Wattiez R, Pirson Y, Chauveau D, Lens XM, Devuyst O. Persu A, et al. Among authors: lens xm. Hum Mol Genet. 2002 Feb 1;11(3):229-41. doi: 10.1093/hmg/11.3.229. Hum Mol Genet. 2002. PMID: 11823442

8

Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.

Viribay M, Hayashi T, Tellería D, Mochizuki T, Reynolds DM, Alonso R, Lens XM, Moreno F, Harris PC, Somlo S, San Millán JL. Viribay M, et al. Among authors: lens xm. Hum Genet. 1997 Dec;101(2):229-34. doi: 10.1007/s004390050621. Hum Genet. 1997. PMID: 9402976

9

A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.

Lens XM, Banet JF, Outeda P, Barrio-Lucía V. Lens XM, et al. Am J Kidney Dis. 2005 Jul;46(1):52-7. doi: 10.1053/j.ajkd.2005.04.003. Am J Kidney Dis. 2005. PMID: 15983957

10

A comparative study of three kidney biomarker tests in autosomal-dominant polycystic kidney disease.

Casal JA, Hermida J, Lens XM, Tutor JC. Casal JA, et al. Among authors: lens xm. Kidney Int. 2005 Sep;68(3):948-54. doi: 10.1111/j.1523-1755.2005.00488.x. Kidney Int. 2005. PMID: 16105025 Free article.

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