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Items: 1 to 20 of 89

1.

Autosomal dominant polycystic kidney disease in University Clinic of Nephrology and Haemodialysis of Cotonou: clinical and genetical findings.

Laleye A, Awede B, Agboton B, Azonbakin S, Biaou O, Sagbo G, Adjagba M, Audrezet MP, Ferec C, Darboux R.

Genet Couns. 2012;23(4):435-45.

PMID:
23431742
2.

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D, Pei Y.

J Am Soc Nephrol. 2003 May;14(5):1164-74.

3.

PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.

Stekrová J, Reiterová J, Merta M, Damborsky J, Zidovská J, Kebrdlová V, Kohoutová M.

Nephrol Dial Transplant. 2004 May;19(5):1116-22. Epub 2004 Feb 19.

PMID:
14993477
4.

A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.

Ali H, Hussain N, Naim M, Zayed M, Al-Mulla F, Kehinde EO, Seaburg LM, Sundsbak JL, Harris PC.

BMC Nephrol. 2015 Mar 1;16:26. doi: 10.1186/s12882-015-0015-7.

5.

Polycystic kidney disease: a review and occurrence in Slovenia with comparison between ultrasound and genetic testing.

Domanjko-Petric A, Cernec D, Cotman M.

J Feline Med Surg. 2008 Apr;10(2):115-9. Epub 2007 Nov 7. Review.

PMID:
17988914
6.

Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.

Chang MY, Chen HM, Jenq CC, Lee SY, Chen YM, Tian YC, Chen YC, Hung CC, Fang JT, Yang CW, Wu-Chou YH.

J Hum Genet. 2013 Nov;58(11):720-7. doi: 10.1038/jhg.2013.91. Epub 2013 Aug 29.

PMID:
23985799
7.

Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease.

Tan YC, Blumenfeld J, Michaeel A, Donahue S, Balina M, Parker T, Levine D, Rennert H.

Clin Genet. 2011 Sep;80(3):287-92. doi: 10.1111/j.1399-0004.2010.01555.x. Epub 2010 Oct 18.

PMID:
20950398
8.

Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system.

Gonzalez-Paredes FJ, Ramos-Trujillo E, Claverie-Martin F.

Gene. 2016 Mar 1;578(1):117-23. doi: 10.1016/j.gene.2015.12.019. Epub 2015 Dec 10.

PMID:
26692149
9.

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.

10.

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.

11.

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.

12.

[Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease].

Gómez PF, Moro EC, García-Cosmes P, Sarmiento RG, Romo JM.

Nefrologia. 2009;29(6):562-8. doi: 10.3265/Nefrologia.2009.29.6.5511.en.full. Spanish.

13.

[Mutation detection of PKD1 gene in patients with autosomal dominant polycystic kidney diseases].

Li L, Li LY, Zhong CG, Gao BD, Lu GX.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):666-9. Chinese.

PMID:
18067079
14.

Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

Inoue S, Inoue K, Utsunomiya M, Nozaki J, Yamada Y, Iwasa T, Mori E, Yoshinaga T, Koizumi A.

Hum Mutat. 2002 Jun;19(6):622-8.

PMID:
12007219
15.

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.

16.

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.

17.

Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.

Torra R, Badenas C, Pérez-Oller L, Luis J, Millán S, Nicolau C, Oppenheimer F, Milà M, Darnell A.

Am J Kidney Dis. 2000 Oct;36(4):728-34.

PMID:
11007674
18.

Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.

Neumann HP, Jilg C, Bacher J, Nabulsi Z, Malinoc A, Hummel B, Hoffmann MM, Ortiz-Bruechle N, Glasker S, Pisarski P, Neeff H, Krämer-Guth A, Cybulla M, Hornberger M, Wilpert J, Funk L, Baumert J, Paatz D, Baumann D, Lahl M, Felten H, Hausberg M, Zerres K, Eng C; Else-Kroener-Fresenius-ADPKD-Registry.

Nephrol Dial Transplant. 2013 Jun;28(6):1472-87. doi: 10.1093/ndt/gfs551. Epub 2013 Jan 8.

PMID:
23300259
19.

[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
20.

Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.

Reiterová J, Štekrová J, Merta M, Kotlas J, Elišáková V, Lněnička P, Korabečná M, Kohoutová M, Tesař V.

BMC Nephrol. 2013 Mar 15;14:59. doi: 10.1186/1471-2369-14-59.

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