Lichter-Konecki U - Search Results

1

The phenylketonuria G272X haplotype 7 mutation in European populations.

Apold J, Eiken HG, Svensson E, Kunert E, Kozak L, Cechak P, Güttler F, Giltay J, Lichter-Konecki U, Melle D, et al. Apold J, et al. Hum Genet. 1993 Sep;92(2):107-9. doi: 10.1007/BF00219674. Hum Genet. 1993. PMID: 8370573

2

Multiple origins for phenylketonuria in Europe.

Eisensmith RC, Okano Y, Dasovich M, Wang T, Güttler F, Lou H, Guldberg P, Lichter-Konecki U, Konecki DS, Svensson E, et al. Eisensmith RC, et al. Am J Hum Genet. 1992 Dec;51(6):1355-65. Am J Hum Genet. 1992. PMID: 1361100 Free PMC article.

3

Molecular characterization of PKU allele prevalent in southern Europe and Ireland.

Dasovich M, Konecki D, Lichter-Konecki U, Eisensmith RC, Güttler F, Naughton E, Mullins C, Giovannini M, Riva E, Woo SL. Dasovich M, et al. Somat Cell Mol Genet. 1991 May;17(3):303-9. doi: 10.1007/BF01232824. Somat Cell Mol Genet. 1991. PMID: 2047941

4

The Genetic Landscape and Epidemiology of Phenylketonuria.

Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.

5

Molecular basis of phenotypic heterogeneity in phenylketonuria.

Okano Y, Eisensmith RC, Güttler F, Lichter-Konecki U, Konecki DS, Trefz FK, Dasovich M, Wang T, Henriksen K, Lou H, et al. Okano Y, et al. N Engl J Med. 1991 May 2;324(18):1232-8. doi: 10.1056/NEJM199105023241802. N Engl J Med. 1991. PMID: 2014036 Free article.

6

Haplotype distribution and mutations at the PAH locus in Croatia.

Barić I, Mardesić D, Gjurić G, Sarnavka V, Göbel-Schreiner B, Lichter-Konecki U, Konecki DS, Trefz FK. Barić I, et al. Hum Genet. 1992 Sep-Oct;90(1-2):155-7. doi: 10.1007/BF00210763. Hum Genet. 1992. PMID: 1358784

7

DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population.

Lichter-Konecki U, Schlotter M, Yaylak C, Ozgüç M, Coskun T, Ozalp I, Wendel U, Batzler U, Trefz FK, Konecki D. Lichter-Konecki U, et al. Hum Genet. 1989 Mar;81(4):373-6. doi: 10.1007/BF00283695. Hum Genet. 1989. PMID: 2564839

8

Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population.

Lichter-Konecki U, Schlotter M, Konecki DS, Labeit S, Woo SL, Trefz FK. Lichter-Konecki U, et al. Hum Genet. 1988 Apr;78(4):347-52. doi: 10.1007/BF00291733. Hum Genet. 1988. PMID: 2896156

9

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.

Konecki DS, Lichter-Konecki U. Konecki DS, et al. Hum Genet. 1991 Aug;87(4):377-88. doi: 10.1007/BF00197152. Hum Genet. 1991. PMID: 1679029 Review.

10

The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.

Konecki DS, Schlotter M, Trefz FK, Lichter-Konecki U. Konecki DS, et al. Hum Genet. 1991 Aug;87(4):389-93. doi: 10.1007/BF00197153. Hum Genet. 1991. PMID: 1679030

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