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Items: 1 to 20 of 40

1.

Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families.

DALGAARD OZ.

Acta Med Scand Suppl. 1957;328:1-255. No abstract available.

PMID:
13469269
2.

The structure of intramolecular triplex DNA: atomic force microscopy study.

Tiner WJ Sr, Potaman VN, Sinden RR, Lyubchenko YL.

J Mol Biol. 2001 Nov 30;314(3):353-7.

PMID:
11846549
3.

The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage.

Colgin LM, Hackmann AF, Emond MJ, Monnat RJ Jr.

Proc Natl Acad Sci U S A. 2002 Feb 5;99(3):1437-42. Epub 2002 Jan 29.

4.

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.

Niida Y, Stemmer-Rachamimov AO, Logrip M, Tapon D, Perez R, Kwiatkowski DJ, Sims K, MacCollin M, Louis DN, Ramesh V.

Am J Hum Genet. 2001 Sep;69(3):493-503. Epub 2001 Jul 20.

5.

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
6.
7.

Pkd1 unusual DNA conformations are recognized by nucleotide excision repair.

Bacolla A, Jaworski A, Connors TD, Wells RD.

J Biol Chem. 2001 May 25;276(21):18597-604. Epub 2001 Feb 27.

8.

"Second hit" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation.

Kruse R, Rütten A, Hosseiny-Malayeri HR, Bisceglia M, Friedl W, Propping P, Ruzicka T, Mangold E.

J Invest Dermatol. 2001 Mar;116(3):463-5.

9.

Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients.

Badenas C, Torra R, Pérez-Oller L, Mallolas J, Talbot-Wright R, Torregrosa V, Darnell A.

Eur J Hum Genet. 2000 Jul;8(7):487-92.

10.

A search for evidence of somatic mutations in the NF1 gene.

John AM, Ruggieri M, Ferner R, Upadhyaya M.

J Med Genet. 2000 Jan;37(1):44-9.

11.

Lack of dependence on p53 for DNA double strand break repair of episomal vectors in human lymphoblasts.

Kohli M, Jorgensen TJ.

Biochem Biophys Res Commun. 1999 Nov 2;264(3):702-8.

PMID:
10543995
12.

Overcoming a barrier for DNA polymerization in triplex-forming sequences.

Potaman VN, Bissler JJ.

Nucleic Acids Res. 1999 Aug 1;27(15):e5.

13.

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.

14.

Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.

Koptides M, Constantinides R, Kyriakides G, Hadjigavriel M, Patsalis PC, Pierides A, Deltas CC.

Hum Genet. 1998 Dec;103(6):709-17.

PMID:
9921908
15.

Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.

Watnick TJ, Torres VE, Gandolph MA, Qian F, Onuchic LF, Klinger KW, Landes G, Germino GG.

Mol Cell. 1998 Aug;2(2):247-51.

16.

Transcription through a simple DNA repeat blocks replication elongation.

Krasilnikova MM, Samadashwily GM, Krasilnikov AS, Mirkin SM.

EMBO J. 1998 Sep 1;17(17):5095-102.

17.

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
18.

Gene conversion is a likely cause of mutation in PKD1.

Watnick TJ, Gandolph MA, Weber H, Neumann HP, Germino GG.

Hum Mol Genet. 1998 Aug;7(8):1239-43.

PMID:
9668165
19.

Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors.

Dahia PL, Marsh DJ, Zheng Z, Zedenius J, Komminoth P, Frisk T, Wallin G, Parsons R, Longy M, Larsson C, Eng C.

Cancer Res. 1997 Nov 1;57(21):4710-3.

20.

Autosomal dominant polycystic kidney disease: a two-hit model.

Germino GG.

Hosp Pract (1995). 1997 Mar 15;32(3):81-2, 85-8, 91-2 passim.

PMID:
9078975

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