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Results: 1 to 20 of 104

1.

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.

J Am Soc Nephrol. 2010 Jul;21(7):1097-102. doi: 10.1681/ASN.2009101070. Epub 2010 Jun 17.

PMID:
20558538
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

Rossetti S, Kubly VJ, Consugar MB, Hopp K, Roy S, Horsley SW, Chauveau D, Rees L, Barratt TM, van't Hoff WG, Niaudet P, Torres VE, Harris PC.

Kidney Int. 2009 Apr;75(8):848-55. doi: 10.1038/ki.2008.686. Epub 2009 Jan 21. Erratum in: Kidney Int. 2009 Jun;75(12):1359. Kidney Int. 2010 Feb;77(4):368. Niaudet, W Patrick [corrected to Niaudet, Patrick].

PMID:
19165178
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
23496908
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, Milliner DM, King BF, Torres VE, Harris PC.

Medicine (Baltimore). 2006 Jan;85(1):1-21.

PMID:
16523049
[PubMed - indexed for MEDLINE]
6.

Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations.

Freedman BS, Lam AQ, Sundsbak JL, Iatrino R, Su X, Koon SJ, Wu M, Daheron L, Harris PC, Zhou J, Bonventre JV.

J Am Soc Nephrol. 2013 Oct;24(10):1571-86. doi: 10.1681/ASN.2012111089. Epub 2013 Sep 5.

PMID:
24009235
[PubMed - indexed for MEDLINE]
7.

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schöneborn S, Furu L, Onuchic LF, De Baca M, Germino GG, Guay-Woodford L, Somlo S, Moser M, Büttner R, Zerres K.

J Am Soc Nephrol. 2003 Jan;14(1):76-89.

PMID:
12506140
[PubMed - indexed for MEDLINE]
Free Article
8.

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C, Senderek J, Schneider F, Dornia C, Küpper F, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Moser M, Büttner R, Zerres K.

Hum Mutat. 2004 May;23(5):487-95.

PMID:
15108281
[PubMed - indexed for MEDLINE]
9.

Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.

O'Brien K, Font-Montgomery E, Lukose L, Bryant J, Piwnica-Worms K, Edwards H, Riney L, Garcia A, Daryanani K, Choyke P, Mohan P, Heller T, Gahl WA, Gunay-Aygun M.

J Pediatr Gastroenterol Nutr. 2012 Jan;54(1):83-9. doi: 10.1097/MPG.0b013e318228330c.

PMID:
21694639
[PubMed - indexed for MEDLINE]
10.

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.

Rossetti S, Torra R, Coto E, Consugar M, Kubly V, Málaga S, Navarro M, El-Youssef M, Torres VE, Harris PC.

Kidney Int. 2003 Aug;64(2):391-403.

PMID:
12846734
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
Free Article
12.

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.

PMID:
17429049
[PubMed - indexed for MEDLINE]
Free Article
13.

Autosomal recessive and dominant polycystic kidney diseases.

Sessa A, Righetti M, Battini G.

Minerva Urol Nefrol. 2004 Dec;56(4):329-38. Review.

PMID:
15785425
[PubMed - indexed for MEDLINE]
14.

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K.

Hum Mutat. 2005 Mar;25(3):225-31. Review.

PMID:
15706593
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

Hopp K, Ward CJ, Hommerding CJ, Nasr SH, Tuan HF, Gainullin VG, Rossetti S, Torres VE, Harris PC.

J Clin Invest. 2012 Nov 1;122(11):4257-73. doi: 10.1172/JCI64313. Epub 2012 Oct 15.

PMID:
23064367
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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.

PMID:
22034641
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C, Senderek J, Küpper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Büttner R, Zerres K.

Hum Mutat. 2004 May;23(5):453-63. Review.

PMID:
15108277
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
24694054
[PubMed - indexed for MEDLINE]
Free PMC Article

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