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Items: 1 to 20 of 124

1.

DNA structural transitions within the PKD1 gene.

Blaszak RT, Potaman V, Sinden RR, Bissler JJ.

Nucleic Acids Res. 1999 Jul 1;27(13):2610-7.

2.

A 2.5 kb polypyrimidine tract in the PKD1 gene contains at least 23 H-DNA-forming sequences.

Van Raay TJ, Burn TC, Connors TD, Petry LR, Germino GG, Klinger KW, Landes GM.

Microb Comp Genomics. 1996;1(4):317-27.

PMID:
9689215
3.
4.

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

Thomas R, McConnell R, Whittacker J, Kirkpatrick P, Bradley J, Sandford R.

Am J Hum Genet. 1999 Jul;65(1):39-49.

5.

Large deletions in the polycystic kidney disease 1 (PKD1) gene.

Ariyurek Y, Lantinga-van Leeuwen I, Spruit L, Ravine D, Breuning MH, Peters DJ.

Hum Mutat. 2004 Jan;23(1):99.

PMID:
14695542
6.

Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.

Ding L, Zhang S, Qiu W, Xiao C, Wu S, Zhang G, Cheng L, Zhang S.

Nephrol Dial Transplant. 2002 Jan;17(1):75-80.

PMID:
11773467
7.

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

Bouba I, Koptides M, Mean R, Costi CE, Demetriou K, Georgiou I, Pierides A, Siamopoulos K, Deltas CC.

Eur J Hum Genet. 2001 Sep;9(9):677-84.

8.

[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].

Torra R, Badenas C, Pérez-Oller L, San Millán JL, Tellería D, Estivill X, Darnell A.

Nefrologia. 2000 Jan-Feb;20(1):39-46. Spanish.

9.
10.

A novel cyclin gene (CCNF) in the region of the polycystic kidney disease gene (PKD1).

Kraus B, Pohlschmidt M, Leung AL, Germino GG, Snarey A, Schneider MC, Reeders ST, Frischauf AM.

Genomics. 1994 Nov 1;24(1):27-33.

PMID:
7896286
11.

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.

Watnick TJ, Piontek KB, Cordal TM, Weber H, Gandolph MA, Qian F, Lens XM, Neumann HP, Germino GG.

Hum Mol Genet. 1997 Sep;6(9):1473-81.

PMID:
9285784
12.

Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes.

Bogdanova N, Markoff A, Gerke V, McCluskey M, Horst J, Dworniczak B.

Genomics. 2001 Jun 15;74(3):333-41.

PMID:
11414761
13.

DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.

Perrichot RA, Mercier B, Simon PM, Whebe B, Cledes J, Ferec C.

Hum Genet. 1999 Sep;105(3):231-9.

PMID:
10987650
16.

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.

Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millán JL, Gamble V, Harris PC.

Nat Genet. 1995 Jun;10(2):151-60.

PMID:
7663510
17.

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

Torra R, Badenas C, San Millán JL, Pérez-Oller L, Estivill X, Darnell A.

Am J Hum Genet. 1999 Aug;65(2):345-52.

18.

Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes.

Aguiari G, Savelli S, Garbo M, Bozza A, Augello G, Penolazzi L, De Paoli Vitali E, La Torre C, Cappelli G, Piva R, del Senno L.

Hum Mutat. 2000 Nov;16(5):444-5.

PMID:
11058904
19.

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

Tan YC, Blumenfeld JD, Anghel R, Donahue S, Belenkaya R, Balina M, Parker T, Levine D, Leonard DG, Rennert H.

Hum Mutat. 2009 Feb;30(2):264-73. doi: 10.1002/humu.20842.

PMID:
18837007
20.

Multiple non-B-DNA conformations of polypurine.polypyrimidine sequences in plasmids.

Shimizu M, Hanvey JC, Wells RD.

Biochemistry. 1990 May 15;29(19):4704-13.

PMID:
2372553

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