Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 227

1.

Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.

Qi XP, Du ZF, Ma JM, Chen XL, Zhang Q, Fei J, Wei XM, Chen D, Ke HP, Liu XZ, Li F, Chen ZG, Su Z, Jin HY, Liu WT, Zhao Y, Jiang HL, Lan ZZ, Li PF, Fang MY, Dong W, Zhang XN.

Gene. 2013 Mar 1;516(1):93-100. doi: 10.1016/j.gene.2012.12.060. Epub 2012 Dec 21.

PMID:
23266634
2.

Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing.

Yang T, Meng Y, Wei X, Shen J, Zhang M, Qi C, Wang C, Liu J, Ma M, Huang S.

Clin Chim Acta. 2014 Jun 10;433:12-9. doi: 10.1016/j.cca.2014.02.011. Epub 2014 Feb 26.

PMID:
24582653
3.

A new PKD1 mutation discovered in a Chinese family with autosomal polycystic kidney disease.

Wang Z, Wang Y, Xiong J.

Kidney Blood Press Res. 2014;39(1):1-8. doi: 10.1159/000355772. Epub 2014 Apr 30.

4.

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Rossetti S, Hopp K, Sikkink RA, Sundsbak JL, Lee YK, Kubly V, Eckloff BW, Ward CJ, Winearls CG, Torres VE, Harris PC.

J Am Soc Nephrol. 2012 May;23(5):915-33. doi: 10.1681/ASN.2011101032. Epub 2012 Mar 1.

5.

Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.

Choi R, Park HC, Lee K, Lee MG, Kim JW, Ki CS, Hwang YH, Ahn C.

BMC Med Genet. 2014 Dec 10;15:129. doi: 10.1186/s12881-014-0129-y.

6.

[Identification of mutations in PKD1 and PKD2 genes in two Chinese families with autosomal dominant polycystic kidney disease].

Yu CW, Yang Y, Zhang SZ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):485-9. doi: 10.3760/cma.j.issn.1003-9406.2011.05.002. Chinese.

PMID:
21983717
7.

Putative mutation of PKD1 gene responsible for autosomal dominant polycystic kidney disease in a Chinese family.

Li J, Yu C, Tao Y, Yang Y, Hu Z, Zhang S.

Int J Urol. 2011 Mar;18(3):240-2. doi: 10.1111/j.1442-2042.2010.02709.x.

8.

Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.

Yu C, Yang Y, Zou L, Hu Z, Li J, Liu Y, Ma Y, Ma M, Su D, Zhang S.

BMC Med Genet. 2011 Dec 20;12:164. doi: 10.1186/1471-2350-12-164.

9.

Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations.

Zhao X, Paterson AD, Zahirieh A, He N, Wang K, Pei Y.

Clin J Am Soc Nephrol. 2008 Jan;3(1):146-52. Epub 2007 Dec 12.

10.

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Obeidova L, Elisakova V, Stekrova J, Reiterova J, Merta M, Tesar V, Losan F, Kohoutova M.

BMC Med Genet. 2014 Apr 3;15:41. doi: 10.1186/1471-2350-15-41.

11.

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

Tan YC, Blumenfeld JD, Anghel R, Donahue S, Belenkaya R, Balina M, Parker T, Levine D, Leonard DG, Rennert H.

Hum Mutat. 2009 Feb;30(2):264-73. doi: 10.1002/humu.20842.

PMID:
18837007
12.

Development and validation of a whole genome amplification long-range PCR sequencing method for ADPKD genotyping of low-level DNA samples.

Liu G, Tan AY, Michaeel A, Blumenfeld J, Donahue S, Bobb W, Parker T, Levine D, Rennert H.

Gene. 2014 Oct 15;550(1):131-5. doi: 10.1016/j.gene.2014.07.008. Epub 2014 Jul 8.

PMID:
25010725
13.

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

Stekrova J, Reiterova J, Svobodova S, Kebrdlova V, Lnenicka P, Merta M, Viklicky O, Kohoutova M.

BMC Med Genet. 2009 Aug 17;10:78. doi: 10.1186/1471-2350-10-78.

14.

High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Bataille S, Berland Y, Fontes M, Burtey S.

BMC Nephrol. 2011 Oct 18;12:57. doi: 10.1186/1471-2369-12-57.

15.

[Mutation detection of ADPKD PKD1 gene in Hans by denaturing high-performance liquid chromatography].

Zhang SZ, Zhang YH, Zhang DY, Mei CL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Jun;23(3):283-8. Chinese.

PMID:
16767665
16.

Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, Bénech C, Maestri S, Le Meur Y, Férec C.

Hum Mutat. 2012 Aug;33(8):1239-50. doi: 10.1002/humu.22103. Epub 2012 May 24.

PMID:
22508176
17.

Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

Tan AY, Michaeel A, Liu G, Elemento O, Blumenfeld J, Donahue S, Parker T, Levine D, Rennert H.

J Mol Diagn. 2014 Mar;16(2):216-28. doi: 10.1016/j.jmoldx.2013.10.005. Epub 2013 Dec 27.

18.

Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.

Ding L, Zhang S, Qiu W, Xiao C, Wu S, Zhang G, Cheng L, Zhang S.

Nephrol Dial Transplant. 2002 Jan;17(1):75-80.

PMID:
11773467
19.

Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).

Hoefele J, Mayer K, Scholz M, Klein HG.

Nephrol Dial Transplant. 2011 Jul;26(7):2181-8. doi: 10.1093/ndt/gfq720. Epub 2010 Nov 29.

PMID:
21115670
20.

[A Chinese autosomal dominant polycystic kidney disease family probably related to PKD2 gene].

Sun Y, Ding L, Wang YQ, Zhou HY, Zhang SZ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Oct;22(5):554-6. Chinese.

PMID:
16215947

Supplemental Content

Support Center