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Items: 1 to 20 of 150

1.

Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.

Paul BM, Consugar MB, Ryan Lee M, Sundsbak JL, Heyer CM, Rossetti S, Kubly VJ, Hopp K, Torres VE, Coto E, Clementi M, Bogdanova N, de Almeida E, Bichet DG, Harris PC.

Kidney Int. 2014 Feb;85(2):383-92. doi: 10.1038/ki.2013.227. Epub 2013 Jun 12.

2.

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

Vouk K, Strmecki L, Stekrova J, Reiterova J, Bidovec M, Hudler P, Kenig A, Jereb S, Zupanic-Pajnic I, Balazic J, Haarpaintner G, Leskovar B, Adamlje A, Skoflic A, Dovc R, Hojs R, Komel R.

BMC Med Genet. 2006 Jan 23;7:6.

3.

Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.

Wang K, Zhao X, Chan S, Cil O, He N, Song X, Paterson AD, Pei Y.

Clin J Am Soc Nephrol. 2009 Feb;4(2):442-9. doi: 10.2215/CJN.00980208. Epub 2009 Jan 21.

4.

Genetic analysis of Iranian autosomal dominant polycystic kidney disease: new insight to haplotype analysis.

Entezam M, Khatami MR, Saddadi F, Ayati M, Roozbeh J, Saghafi H, Keramatipour M.

Cell Mol Biol (Noisy-le-grand). 2016 Feb 4;62(2):15-20.

PMID:
26950445
5.

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.

6.
7.

A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.

Ariza M, Alvarez V, Marín R, Aguado S, López-Larrea C, Alvarez J, Menéndez MJ, Coto E.

J Med Genet. 1997 Jul;34(7):587-9.

8.

Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.

Pei Y, Paterson AD, Wang KR, He N, Hefferton D, Watnick T, Germino GG, Parfrey P, Somlo S, St George-Hyslop P.

Am J Hum Genet. 2001 Feb;68(2):355-63. Epub 2001 Jan 10.

9.

A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease.

Kurashige M, Hanaoka K, Imamura M, Udagawa T, Kawaguchi Y, Hasegawa T, Hosoya T, Yokoo T, Maeda S.

Clin Genet. 2015 Mar;87(3):266-72. doi: 10.1111/cge.12372. Epub 2014 Apr 3.

PMID:
24611717
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.
12.

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
13.

Polycystic Kidney Disease without an Apparent Family History.

Iliuta IA, Kalatharan V, Wang K, Cornec-Le Gall E, Conklin J, Pourafkari M, Ting R, Chen C, Borgo AC, He N, Song X, Heyer CM, Senum SR, Hwang YH, Paterson AD, Harris PC, Khalili K, Pei Y.

J Am Soc Nephrol. 2017 Sep;28(9):2768-2776. doi: 10.1681/ASN.2016090938. Epub 2017 May 18.

PMID:
28522688
14.

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.

15.

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.

16.

Progression of kidney disease varies between families with defects in the polycystic kidney disease type 1 gene in eastern Finland.

Lumiaho A, Ikäheimo R, Pihlajamäki J, Miettinen R, Niemitukia L, Vanninen R, Lampainen E, Laakso M.

Scand J Urol Nephrol. 2003;37(4):352-8.

PMID:
12944197
17.

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.

18.

Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.

Reed B, McFann K, Kimberling WJ, Pei Y, Gabow PA, Christopher K, Petersen E, Kelleher C, Fain PR, Johnson A, Schrier RW.

Am J Kidney Dis. 2008 Dec;52(6):1042-50. doi: 10.1053/j.ajkd.2008.05.015. Epub 2008 Jul 21.

19.

[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
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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