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Items: 7

1.

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

Consugar MB, Wong WC, Lundquist PA, Rossetti S, Kubly VJ, Walker DL, Rangel LJ, Aspinwall R, Niaudet WP, Ozen S, David A, Velinov M, Bergstralh EJ, Bae KT, Chapman AB, Guay-Woodford LM, Grantham JJ, Torres VE, Sampson JR, Dawson BD, Harris PC; CRISP Consortium.

Kidney Int. 2008 Dec;74(11):1468-79. doi: 10.1038/ki.2008.485. Epub 2008 Sep 24.

2.

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
3.

Polycystic kidney disease. 1: Identification and analysis of the primary defect.

Harris PC, Ward CJ, Peral B, Hughes J.

J Am Soc Nephrol. 1995 Oct;6(4):1125-33. Review.

4.

Autosomal dominant polycystic kidney disease: molecular analysis.

Harris PC, Ward CJ, Peral B, Hughes J.

Hum Mol Genet. 1995;4 Spec No:1745-9. Review.

PMID:
8541874
5.

The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).

Rossetti S, Harris PC.

Curr Hypertens Rev. 2013 Feb;9(1):37-43. Review.

6.

Differential Diagnosis of Autosomal Dominant Polycystic Kidney Disease.

Alves M, Fonseca T, de Almeida EAF.

In: Li X, editor. Polycystic Kidney Disease [Internet]. Brisbane (AU): Codon Publications; 2015 Nov. Chapter 1.

7.

The diversity of PKD1 alleles: implications for disease pathogenesis and genetic counseling.

Sandford RN.

Kidney Int. 2009 Apr;75(8):765-7. doi: 10.1038/ki.2009.17. Review.

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