Dworniczak B - Search Results

1

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

2

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

3

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. Genomics. 1991 Jan;9(1):193-9. doi: 10.1016/0888-7543(91)90238-a. Genomics. 1991. PMID: 1672290

4

A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.

Eigel A, Dworniczak B, Kalaydjieva L, Horst J. Eigel A, et al. Among authors: dworniczak b. Hum Genet. 1991 Oct;87(6):739-41. doi: 10.1007/BF00201738. Hum Genet. 1991. PMID: 1682235

5

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.

Kalaydjieva L, Dworniczak B, Aulehla-Scholz C, Devoto M, Romeo G, Sturhmann M, Kucinskas V, Yurgelyavicius V, Horst J. Kalaydjieva L, et al. Among authors: dworniczak b. J Med Genet. 1991 Oct;28(10):686-90. doi: 10.1136/jmg.28.10.686. J Med Genet. 1991. PMID: 1682495 Free PMC article.

6

Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.

Dworniczak B, Aulehla-Scholz C, Kalaydjieva L, Bartholomé K, Grudda K, Horst J. Dworniczak B, et al. Genomics. 1991 Oct;11(2):242-6. doi: 10.1016/0888-7543(91)90129-3. Genomics. 1991. PMID: 1769645

7

The frequency of the CF delta F508 deletion in CF chromosomes of different ethnic origin.

Aulehla-Scholz C, Kaiser R, Weber J, Pivetta O, Eigel A, Dworniczak B, Olek K, Horst J. Aulehla-Scholz C, et al. Among authors: dworniczak b. Hum Genet. 1990 Sep;85(4):392-3. doi: 10.1007/BF02428269. Hum Genet. 1990. PMID: 2210740 No abstract available.

8

Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles.

Dworniczak B, Aulehla-Scholz C, Horst J. Dworniczak B, et al. Clin Genet. 1990 Oct;38(4):270-3. doi: 10.1111/j.1399-0004.1990.tb03580.x. Clin Genet. 1990. PMID: 2268974

9

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

Dworniczak B, Aulehla-Scholz C, Horst J. Dworniczak B, et al. Hum Genet. 1989 Dec;84(1):95-6. doi: 10.1007/BF00210683. Hum Genet. 1989. PMID: 2606484

10

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: dworniczak b. Hum Genet. 1995 Jun;95(6):645-50. doi: 10.1007/BF00209481. Hum Genet. 1995. PMID: 7789949

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