Horst J - Search Results

1

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. Bogdanova N, et al. Among authors: horst j. Genomics. 2001 Jun 15;74(3):333-41. doi: 10.1006/geno.2001.6568. Genomics. 2001. PMID: 11414761

2

Autosomal dominant polycystic kidney disease - clinical and genetic aspects.

Bogdanova N, Markoff A, Horst J. Bogdanova N, et al. Among authors: horst j. Kidney Blood Press Res. 2002;25(5):265-83. doi: 10.1159/000066788. Kidney Blood Press Res. 2002. PMID: 12435872 Review.

3

A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1.

Hackmann K, Markoff A, Qian F, Bogdanova N, Germino GG, Pennekamp P, Dworniczak B, Horst J, Gerke V. Hackmann K, et al. Among authors: horst j. Hum Mol Genet. 2005 Nov 1;14(21):3249-62. doi: 10.1093/hmg/ddi356. Epub 2005 Sep 28. Hum Mol Genet. 2005. PMID: 16192288

4

Genetic heterogeneity of polycystic kidney disease in Bulgaria.

Bogdanova N, Dworniczak B, Dragova D, Todorov V, Dimitrakov D, Kalinov K, Hallmayer J, Horst J, Kalaydjieva L. Bogdanova N, et al. Among authors: horst j. Hum Genet. 1995 Jun;95(6):645-50. doi: 10.1007/BF00209481. Hum Genet. 1995. PMID: 7789949

5

Characterization of the murine polycystic kidney disease (Pkd2) gene.

Pennekamp P, Bogdanova N, Wilda M, Markoff A, Hameister H, Horst J, Dworniczak B. Pennekamp P, et al. Among authors: horst j. Mamm Genome. 1998 Sep;9(9):749-52. doi: 10.1007/s003359900857. Mamm Genome. 1998. PMID: 9716661

6

Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations.

Bogdanova N, McCluskey M, Sikmann K, Markoff A, Todorov V, Dimitrakov D, Schiavello T, Thomas M, Kalaydjieva L, Dworniczak B, Horst J. Bogdanova N, et al. Among authors: horst j. Hum Mutat. 2000;16(2):166-74. doi: 10.1002/1098-1004(200008)16:2<166::AID-HUMU9>3.0.CO;2-4. Hum Mutat. 2000. PMID: 10923038

7

Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A.

Bogdanova N, Markoff A, Pollmann H, Nowak-Göttl U, Eisert R, Dworniczak B, Eigel A, Horst J. Bogdanova N, et al. Among authors: horst j. Hum Mutat. 2002 Sep;20(3):236-7. doi: 10.1002/humu.9062. Hum Mutat. 2002. PMID: 12204009

8

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.

Bogdanova N, Markoff A, Pollmann H, Nowak-Göttl U, Eisert R, Wermes C, Todorova A, Eigel A, Dworniczak B, Horst J. Bogdanova N, et al. Among authors: horst j. Hum Mutat. 2005 Sep;26(3):249-54. doi: 10.1002/humu.20208. Hum Mutat. 2005. PMID: 16086318

9

Cardiovascular characterization of Pkd2(+/LacZ) mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD2).

Stypmann J, Engelen MA, Orwat S, Bilbilis K, Rothenburger M, Eckardt L, Haverkamp W, Horst J, Dworniczak B, Pennekamp P. Stypmann J, et al. Among authors: horst j. Int J Cardiol. 2007 Aug 21;120(2):158-66. doi: 10.1016/j.ijcard.2006.09.013. Epub 2006 Dec 19. Int J Cardiol. 2007. PMID: 17182135

10

Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.

Dworniczak B, Grudda K, Stümper J, Bartholomé K, Aulehla-Scholz C, Horst J. Dworniczak B, et al. Among authors: horst j. Genomics. 1991 Jan;9(1):193-9. doi: 10.1016/0888-7543(91)90238-a. Genomics. 1991. PMID: 1672290

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