Berger R - Search Results

1

The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency.

Rootwelt H, Kvittingen EA, Høie K, Agsteribbe E, Hartog M, van Faassen H, Berger R. Rootwelt H, et al. Among authors: berger r. Hum Genet. 1992 May;89(2):229-33. doi: 10.1007/BF00217128. Hum Genet. 1992. PMID: 1350265

2

Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.

Kvittingen EA, Rootwelt H, van Dam T, van Faassen H, Berger R. Kvittingen EA, et al. Among authors: berger r. Pediatr Res. 1992 Jan;31(1):43-6. doi: 10.1203/00006450-199201000-00008. Pediatr Res. 1992. PMID: 1594329

3

Self-induced correction of the genetic defect in tyrosinemia type I.

Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P. Kvittingen EA, et al. Among authors: berger r. J Clin Invest. 1994 Oct;94(4):1657-61. doi: 10.1172/JCI117509. J Clin Invest. 1994. PMID: 7929843 Free PMC article.

4

Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.

Rootwelt H, Berger R, Gray G, Kelly DA, Coşkun T, Kvittingen EA. Rootwelt H, et al. Among authors: berger r. Am J Hum Genet. 1994 Oct;55(4):653-8. Am J Hum Genet. 1994. PMID: 7942842 Free PMC article.

5

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.

Rootwelt H, Chou J, Gahl WA, Berger R, Coşkun T, Brodtkorb E, Kvittingen EA. Rootwelt H, et al. Among authors: berger r. Hum Genet. 1994 Jun;93(6):615-9. doi: 10.1007/BF00201558. Hum Genet. 1994. PMID: 8005583

6

Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.

Rootwelt H, Kristensen T, Berger R, Høie K, Kvittingen EA. Rootwelt H, et al. Among authors: berger r. Hum Genet. 1994 Sep;94(3):235-9. doi: 10.1007/BF00208276. Hum Genet. 1994. PMID: 8076937

7

Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.

Kvittingen EA, Rootwelt H, Brandtzaeg P, Bergan A, Berger R. Kvittingen EA, et al. Among authors: berger r. J Clin Invest. 1993 Apr;91(4):1816-21. doi: 10.1172/JCI116393. J Clin Invest. 1993. PMID: 8473520 Free PMC article.

8

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.

Ploos van Amstel JK, Bergman AJ, van Beurden EA, Roijers JF, Peelen T, van den Berg IE, Poll-The BT, Kvittingen EA, Berger R. Ploos van Amstel JK, et al. Among authors: berger r. Hum Genet. 1996 Jan;97(1):51-9. doi: 10.1007/BF00218833. Hum Genet. 1996. PMID: 8557261

9

Fumarylacetoacetase mutations in tyrosinaemia type I.

Rootwelt H, Høie K, Berger R, Kvittingen EA. Rootwelt H, et al. Among authors: berger r. Hum Mutat. 1996;7(3):239-43. doi: 10.1002/(SICI)1098-1004(1996)7:3<239::AID-HUMU8>3.0.CO;2-5. Hum Mutat. 1996. PMID: 8829657

10

Nucleotide sequence of cDNA encoding human fumarylacetoacetase.

Agsteribbe E, van Faassen H, Hartog MV, Reversma T, Taanman JW, Pannekoek H, Evers RF, Welling GM, Berger R. Agsteribbe E, et al. Among authors: berger r. Nucleic Acids Res. 1990 Apr 11;18(7):1887. doi: 10.1093/nar/18.7.1887. Nucleic Acids Res. 1990. PMID: 2336361 Free PMC article. No abstract available.

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