Konecki D - Search Results

1

PAHdb 2003: what a locus-specific knowledgebase can do.

Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, Erlandsen H, Stevens R, Waters PJ, Ryan S, McDonald D, Sarkissian C. Scriver CR, et al. Among authors: konecki d. Hum Mutat. 2003 Apr;21(4):333-44. doi: 10.1002/humu.10200. Hum Mutat. 2003. PMID: 12655543 Review.

2

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. Among authors: konecki d. Hum Genet. 1989 Mar;81(4):373-6. doi: 10.1007/BF00283695. Hum Genet. 1989. PMID: 2564839

3

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. Among authors: konecki ds. Hum Genet. 1992 Sep-Oct;90(1-2):155-7. doi: 10.1007/BF00210763. Hum Genet. 1992. PMID: 1358784

4

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.

5

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. Among authors: konecki ds. Hum Genet. 1988 Apr;78(4):347-52. doi: 10.1007/BF00291733. Hum Genet. 1988. PMID: 2896156

6

Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.

Lichter-Konecki U, Broman KW, Blau EB, Konecki DS. Lichter-Konecki U, et al. Among authors: konecki ds. Am J Hum Genet. 2001 Jan;68(1):264-8. doi: 10.1086/316923. Epub 2000 Nov 22. Am J Hum Genet. 2001. PMID: 11090339 Free PMC article.

7

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

8

DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles.

Lichter-Konecki U, Schlotter M, Konecki DS. Lichter-Konecki U, et al. Among authors: konecki ds. Hum Genet. 1994 Sep;94(3):307-10. doi: 10.1007/BF00208290. Hum Genet. 1994. PMID: 8076950

9

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene.

Goltsov AA, Eisensmith RC, Konecki DS, Lichter-Konecki U, Woo SL. Goltsov AA, et al. Among authors: konecki ds. Am J Hum Genet. 1992 Sep;51(3):627-36. Am J Hum Genet. 1992. PMID: 1353941 Free PMC article.

10

Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome.

Matsumoto N, David DE, Johnson EW, Konecki D, Burmester JK, Ledbetter DH, Weber JL. Matsumoto N, et al. Among authors: konecki d. Eur J Hum Genet. 2000 Nov;8(11):875-83. doi: 10.1038/sj.ejhg.5200549. Eur J Hum Genet. 2000. PMID: 11093278

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