Tümer Z - Search Results

1

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T. Møller RS, et al. Among authors: tumer z. Hum Genet. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11. Hum Genet. 2014. PMID: 24326587

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

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

4

Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes.

Silahtaroglu AN, Tümer Z, Kristensen T, Sottrup-Jensen L, Tommerup N. Silahtaroglu AN, et al. Among authors: tumer z. Cytogenet Cell Genet. 1993;62(4):214-6. doi: 10.1159/000133479. Cytogenet Cell Genet. 1993. PMID: 7679961

5

A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.

Tommerup N, Tümer Z, Tønnesen T, Horn N. Tommerup N, et al. Among authors: tumer z. J Med Genet. 1993 Apr;30(4):314-5. doi: 10.1136/jmg.30.4.314. J Med Genet. 1993. PMID: 8487278 Free PMC article. No abstract available.

6

Not para-, not peri-, but centric inversion of chromosome 12.

Silahtaroglu AN, Hacihanefioglu S, Güven GS, Cenani A, Wirth J, Tommerup N, Tümer Z. Silahtaroglu AN, et al. Among authors: tumer z. J Med Genet. 1998 Aug;35(8):682-4. doi: 10.1136/jmg.35.8.682. J Med Genet. 1998. PMID: 9719380 Free PMC article.

7

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.

Silahtaroglu A, Hol FA, Jensen PK, Erdel M, Duba HC, Geurds MP, Knoers NV, Mariman EC, Tümer Z, Utermann G, Wirth J, Bugge M, Tommerup N. Silahtaroglu A, et al. Among authors: tumer z. Eur J Hum Genet. 1999 Jan;7(1):68-76. doi: 10.1038/sj.ejhg.5200260. Eur J Hum Genet. 1999. PMID: 10094193

8

Møller LB, Tümer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR, Horn N. Møller LB, et al. Among authors: tumer z. Am J Hum Genet. 2000 Apr;66(4):1211-20. doi: 10.1086/302857. Epub 2000 Mar 17. Am J Hum Genet. 2000. PMID: 10739752 Free PMC article.

9

Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation.

Harboe TL, Tümer Z, Hansen C, Jensen NA, Tommerup N. Harboe TL, et al. Among authors: tumer z. Cytogenet Cell Genet. 2000;89(3-4):156-7. doi: 10.1159/000015600. Cytogenet Cell Genet. 2000. PMID: 10965110 No abstract available.

10

Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33-->q23.

Rendtorff ND, Vissing H, Tümer Z, Silahtaroglu A, Tommerup N. Rendtorff ND, et al. Among authors: tumer z. Cytogenet Cell Genet. 2000;89(3-4):279-80. doi: 10.1159/000015635. Cytogenet Cell Genet. 2000. PMID: 10965145 No abstract available.

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