Tümer Z - Search Results

1

Menkes disease.

Tümer Z, Møller LB. Tümer Z, et al. Eur J Hum Genet. 2010 May;18(5):511-8. doi: 10.1038/ejhg.2009.187. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888294 Free PMC article. Review.

2

Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease.

Tümer Z, Chelly J, Tommerup N, Ishikawa-Brush Y, Tønnesen T, Monaco AP, Horn N. Tümer Z, et al. Hum Mol Genet. 1992 Oct;1(7):483-9. doi: 10.1093/hmg/1.7.483. Hum Mol Genet. 1992. PMID: 1307248

3

Menkes disease: an X-linked neurological disorder of the copper metabolism.

Horn N, Tønnesen T, Tümer Z. Horn N, et al. Among authors: tumer z. Brain Pathol. 1992 Oct;2(4):351-62. doi: 10.1111/j.1750-3639.1992.tb00711.x. Brain Pathol. 1992. PMID: 1341968 Review.

4

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2.

Tümer Z, Tommerup N, Tønnesen T, Kreuder J, Craig IW, Horn N. Tümer Z, et al. Hum Genet. 1992 Mar;88(6):668-72. doi: 10.1007/BF02265295. Hum Genet. 1992. PMID: 1348049

5

Characterization of the exon structure of the Menkes disease gene using vectorette PCR.

Tümer Z, Vural B, Tønnesen T, Chelly J, Monaco AP, Horn N. Tümer Z, et al. Genomics. 1995 Apr 10;26(3):437-42. doi: 10.1016/0888-7543(95)80160-n. Genomics. 1995. PMID: 7607665

6

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis.

Tümer Z, Tønnesen T, Horn N. Tümer Z, et al. J Inherit Metab Dis. 1994;17(3):267-70. doi: 10.1007/BF00711804. J Inherit Metab Dis. 1994. PMID: 7807930 No abstract available.

7

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

Tümer Z, Tønnesen T, Böhmann J, Marg W, Horn N. Tümer Z, et al. J Med Genet. 1994 Aug;31(8):615-7. doi: 10.1136/jmg.31.8.615. J Med Genet. 1994. PMID: 7815418 Free PMC article.

8

X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization.

Beck J, Enders H, Schliephacke M, Buchwald-Saal M, Tümer Z. Beck J, et al. Among authors: tumer z. Clin Genet. 1994 Oct;46(4):295-8. doi: 10.1111/j.1399-0004.1994.tb04163.x. Clin Genet. 1994. PMID: 7834894

9

Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: detection of a break in the centromeric alpha-satellite sequences.

Tümer Z, Berg A, Mikkelsen M. Tümer Z, et al. Hum Genet. 1995 Mar;95(3):299-302. doi: 10.1007/BF00225197. Hum Genet. 1995. PMID: 7868122

10

Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice.

George AM, Reed V, Glenister P, Chelly J, Tümer Z, Horn N, Monaco AP, Boyd Y. George AM, et al. Among authors: tumer z. Genomics. 1994 Jul 1;22(1):27-35. doi: 10.1006/geno.1994.1341. Genomics. 1994. PMID: 7959788

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