Erdel M - Search Results

1

Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype.

Erdel M, Duba HC, Verdorfer I, Lingenhel A, Geiger R, Gutenberger KH, Ludescher E, Utermann B, Utermann G. Erdel M, et al. Hum Genet. 1997 May;99(5):596-601. doi: 10.1007/s004390050412. Hum Genet. 1997. PMID: 9150724

2

The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.

Duba HC, Doll A, Neyer M, Erdel M, Mann C, Hammerer I, Utermann G, Grzeschik KH. Duba HC, et al. Among authors: erdel m. Eur J Hum Genet. 2002 Jun;10(6):351-61. doi: 10.1038/sj.ejhg.5200812. Eur J Hum Genet. 2002. PMID: 12080386

3

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism.

Loeffler J, Soelder E, Erdel M, Utermann B, Janecke A, Duba HC, Utermann G. Loeffler J, et al. Among authors: erdel m. Am J Med Genet A. 2003 Jan 30;116A(3):290-4. doi: 10.1002/ajmg.a.10902. Am J Med Genet A. 2003. PMID: 12503109 Review.

4

Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).

Erdel M, Schuffenhauer S, Buchholz B, Barth-Witte U, Köchl S, Utermann B, Duba HC, Utermann G. Erdel M, et al. Hum Genet. 1996 Jun;97(6):784-93. doi: 10.1007/BF02346190. Hum Genet. 1996. PMID: 8641697

5

Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.

Duba HC, Erdel M, Löffler J, Bereuther L, Fischer H, Utermann B, Utermann G. Duba HC, et al. Among authors: erdel m. J Med Genet. 1997 Apr;34(4):309-13. doi: 10.1136/jmg.34.4.309. J Med Genet. 1997. PMID: 9138155 Free PMC article.

6

Characterisation of a collecting duct carcinoma by cytogenetic analysis and comparative genomic hybridisation.

Verdorfer I, Culig Z, Hobisch A, Bartsch G, Hittmair A, Duba HC, Erdel M. Verdorfer I, et al. Among authors: erdel m. Int J Oncol. 1998 Sep;13(3):461-4. doi: 10.3892/ijo.13.3.461. Int J Oncol. 1998. PMID: 9683779

7

Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier.

Duba HC, Erdel M, Löffler J, Wirth J, Utermann B, Utermann G. Duba HC, et al. Among authors: erdel m. Eur J Hum Genet. 1998 Jan;6(1):75-9. doi: 10.1038/sj.ejhg.5200155. Eur J Hum Genet. 1998. PMID: 9781017

8

Cytogenetic characterization of 22 human renal cell tumors in relation to a histopathological classification.

Verdorfer I, Hobisch A, Hittmair A, Duba HC, Bartsch G, Utermann G, Erdel M. Verdorfer I, et al. Among authors: erdel m. Cancer Genet Cytogenet. 1999 May;111(1):61-70. doi: 10.1016/s0165-4608(98)00217-9. Cancer Genet Cytogenet. 1999. PMID: 10326593

9

Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7).

Löffler J, Utermann B, Duba HC, Mayr U, Utermann G, Erdel M. Löffler J, et al. Among authors: erdel m. Am J Med Genet. 2000 Apr 10;91(4):291-7. doi: 10.1002/(sici)1096-8628(20000410)91:4<291::aid-ajmg10>3.0.co;2-3. Am J Med Genet. 2000. PMID: 10766986

10

Combined study of prostatic carcinoma by classical cytogenetic analysis and comparative genomic hybridization.

Verdorfer I, Hobisch A, Culig Z, Hittmair A, Bartsch G, Erdel M, Duba HC, Utermann G. Verdorfer I, et al. Among authors: erdel m. Int J Oncol. 2001 Dec;19(6):1263-70. doi: 10.3892/ijo.19.6.1263. Int J Oncol. 2001. PMID: 11713598

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