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Items: 1 to 20 of 102

1.

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

Bergmann C, von Bothmer J, Ortiz Brüchle N, Venghaus A, Frank V, Fehrenbach H, Hampel T, Pape L, Buske A, Jonsson J, Sarioglu N, Santos A, Ferreira JC, Becker JU, Cremer R, Hoefele J, Benz MR, Weber LT, Buettner R, Zerres K.

J Am Soc Nephrol. 2011 Nov;22(11):2047-56. doi: 10.1681/ASN.2010101080. Epub 2011 Oct 27.

2.

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.

3.

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
4.

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.

5.

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
6.

Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.

Peltola P, Lumiaho A, Miettinen R, Pihlajamäki J, Sandford R, Laakso M.

J Mol Med (Berl). 2005 Aug;83(8):638-46. Epub 2005 Mar 17.

PMID:
15772804
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.

[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.

9.

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
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.

Type of PKD1 mutation influences renal outcome in ADPKD.

Cornec-Le Gall E, Audrézet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, Guillodo MP, Grall-Jezequel A, Saliou P, Férec C, Le Meur Y.

J Am Soc Nephrol. 2013 May;24(6):1006-13. doi: 10.1681/ASN.2012070650. Epub 2013 Feb 21.

13.

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.

14.

Incident renal events and risk factors in autosomal dominant polycystic kidney disease: a population and family-based cohort followed for 22 years.

Dicks E, Ravani P, Langman D, Davidson WS, Pei Y, Parfrey PS.

Clin J Am Soc Nephrol. 2006 Jul;1(4):710-7. Epub 2006 Jun 8.

15.

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

Audrézet MP, Corbiere C, Lebbah S, Morinière V, Broux F, Louillet F, Fischbach M, Zaloszyc A, Cloarec S, Merieau E, Baudouin V, Deschênes G, Roussey G, Maestri S, Visconti C, Boyer O, Abel C, Lahoche A, Randrianaivo H, Bessenay L, Mekahli D, Ouertani I, Decramer S, Ryckenwaert A, Cornec-Le Gall E, Salomon R, Ferec C, Heidet L.

J Am Soc Nephrol. 2016 Mar;27(3):722-9. doi: 10.1681/ASN.2014101051. Epub 2015 Jul 2.

16.

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.

17.

Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease.

Rossetti S, Harris PC.

J Am Soc Nephrol. 2007 May;18(5):1374-80. Epub 2007 Apr 11. Review.

18.

Feline polycystic kidney disease is linked to the PKD1 region.

Young AE, Biller DS, Herrgesell EJ, Roberts HR, Lyons LA.

Mamm Genome. 2005 Jan;16(1):59-65.

PMID:
15674734
19.

Current advances in molecular genetics of autosomal-dominant polycystic kidney disease.

Wu G.

Curr Opin Nephrol Hypertens. 2001 Jan;10(1):23-31. Review.

PMID:
11195048
20.

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.

Losekoot M, Ruivenkamp CA, Tholens AP, Grimbergen JE, Vijfhuizen L, Vermeer S, Dijkman HB, Cornelissen EA, Bongers EM, Peters DJ.

J Med Genet. 2012 Jan;49(1):37-40. doi: 10.1136/jmedgenet-2011-100452. Epub 2011 Nov 23.

PMID:
22114106

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