Dworniczak B - Search Results

1

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.

Bogdanova N, Lemcke B, Markoff A, Pollmann H, Dworniczak B, Eigel A, Horst J. Bogdanova N, et al. Among authors: dworniczak b. Hum Mutat. 2001 Dec;18(6):546. doi: 10.1002/humu.1234. Hum Mutat. 2001. PMID: 11748850

2

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.

Bogdanova N, Lemcke B, Markoff A, Pollmann H, Dworniczak B, Eigel A, Horst J. Bogdanova N, et al. Among authors: dworniczak b. Hum Mutat. 2002 Jan;19(1):84. doi: 10.1002/humu.9007. Hum Mutat. 2002. PMID: 11754115

3

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: dworniczak b. Hum Mutat. 2002 Sep;20(3):236-7. doi: 10.1002/humu.9062. Hum Mutat. 2002. PMID: 12204009

4

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: dworniczak b. Hum Mutat. 2005 Sep;26(3):249-54. doi: 10.1002/humu.20208. Hum Mutat. 2005. PMID: 16086318

5

Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).

Tavassoli K, Eigel A, Dworniczak B, Valtseva E, Horst J. Tavassoli K, et al. Among authors: dworniczak b. Hum Mutat. 1998;Suppl 1:S260-2. doi: 10.1002/humu.1380110183. Hum Mutat. 1998. PMID: 9452104 No abstract available.

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: dworniczak b. 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

Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

McCluskey M, Schiavello T, Hunter M, Hantke J, Angelicheva D, Bogdanova N, Markoff A, Thomas M, Dworniczak B, Horst J, Kalaydjieva L. McCluskey M, et al. Among authors: dworniczak b. Hum Mutat. 2002 Mar;19(3):240-50. doi: 10.1002/humu.10045. Hum Mutat. 2002. PMID: 11857740

8

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: dworniczak b. 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

9

Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?

Dworniczak B, Kalaydjieva L, Pankoke S, Aulehla-Scholz C, Allen G, Horst J. Dworniczak B, et al. Hum Mutat. 1992;1(2):138-46. doi: 10.1002/humu.1380010209. Hum Mutat. 1992. PMID: 1363786

10

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene.

Dworniczak B, Kalaydjieva L, Aulehla-Scholz C, Ullrich K, Kremensky I, Radeva B, Horst J. Dworniczak B, et al. Hum Genet. 1991 Oct;87(6):731-3. doi: 10.1007/BF00201735. Hum Genet. 1991. PMID: 1682234

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