Berger R - Search Results

1

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

2

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

3

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

van den Berg IE, van Beurden EA, Malingré HE, van Amstel HK, Poll-The BT, Smeitink JA, Lamers WH, Berger R. van den Berg IE, et al. Among authors: berger r. Am J Hum Genet. 1995 Feb;56(2):381-7. Am J Hum Genet. 1995. PMID: 7847371 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

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

van der Sijs-Bos CJ, Diepstraten CM, Juyn JA, Plaisier M, Giltay JC, van Spronsen FJ, Smit GP, Berger R, Smeitink JA, Poll-The BT, Ploos van Amstel JK. van der Sijs-Bos CJ, et al. Among authors: berger r. Hum Hered. 1996 Jul-Aug;46(4):185-90. doi: 10.1159/000154351. Hum Hered. 1996. PMID: 8807319

8

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

9

Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).

van Beurden EA, de Graaf M, Wendel U, Gitzelmann R, Berger R, van den Berg IE. van Beurden EA, et al. Among authors: berger r. Biochem Biophys Res Commun. 1997 Jul 30;236(3):544-8. doi: 10.1006/bbrc.1997.7006. Biochem Biophys Res Commun. 1997. PMID: 9245685

10

Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).

van den Berg IE, van Beurden EA, de Klerk JB, van Diggelen OP, Malingré HE, Boer MM, Berger R. van den Berg IE, et al. Among authors: berger r. Am J Hum Genet. 1997 Sep;61(3):539-46. doi: 10.1086/515502. Am J Hum Genet. 1997. PMID: 9326319 Free PMC article.

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