Schwanitz G - Search Results

1

Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2.

Trost D, Wiebe W, Uhlhaas S, Schwindt P, Schwanitz G. Trost D, et al. Among authors: schwanitz g. J Med Genet. 2000 Jun;37(6):452-4. doi: 10.1136/jmg.37.6.452. J Med Genet. 2000. PMID: 10928854 Free PMC article. No abstract available.

2

[Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2].

Trost D, Engels H, Bauriedel G, Wiebe W, Schwanitz G. Trost D, et al. Among authors: schwanitz g. Dtsch Med Wochenschr. 1999 Jan 8;124(1-2):3-7. doi: 10.1055/s-2008-1062601. Dtsch Med Wochenschr. 1999. PMID: 9951451 German.

3

New trends in chromosomal investigation in children with cardiovascular malformations.

Schellberg R, Schwanitz G, Grävinghoff L, Kallenberg R, Trost D, Raff R, Wiebe W. Schellberg R, et al. Among authors: schwanitz g. Cardiol Young. 2004 Dec;14(6):622-9. doi: 10.1017/S1047951104006079. Cardiol Young. 2004. PMID: 15679998

4

Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: clinical report and review of the literature.

Schubert R, Eggermann T, Hofstaetter C, von Netzer B, Knöpfle G, Schwanitz G. Schubert R, et al. Among authors: schwanitz g. Am J Med Genet. 2002 Jul 1;110(3):278-82. doi: 10.1002/ajmg.10442. Am J Med Genet. 2002. PMID: 12116238 Review.

5

Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

Wieczorek D, Engels H, Viersbach R, Henke B, Schwanitz G, Passarge E. Wieczorek D, et al. Among authors: schwanitz g. J Med Genet. 1998 Jul;35(7):545-53. doi: 10.1136/jmg.35.7.545. J Med Genet. 1998. PMID: 9678698 Free PMC article.

6

Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.

Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM. Roos A, et al. Among authors: schwanitz g. Eur J Med Genet. 2006 Nov-Dec;49(6):505-10. doi: 10.1016/j.ejmg.2006.06.002. Epub 2006 Aug 4. Eur J Med Genet. 2006. PMID: 16905374

7

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

Horsthemke B, Maat-Kievit A, Sleegers E, van den Ouweland A, Buiting K, Lich C, Mollevanger P, Beverstock G, Gillessen-Kaesbach G, Schwanitz G. Horsthemke B, et al. Among authors: schwanitz g. J Med Genet. 1996 Oct;33(10):848-51. doi: 10.1136/jmg.33.10.848. J Med Genet. 1996. PMID: 8933339 Free PMC article.

8

Identification of supernumerary der(20) chromosomes by FISH in three patients.

Viersbach R, Engels H, Schwanitz G. Viersbach R, et al. Among authors: schwanitz g. Am J Med Genet. 1997 Jun 13;70(3):278-83. Am J Med Genet. 1997. PMID: 9188666

9

First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.

Gamerdinger U, Bosse K, Eggermann T, Kalscheuer V, Schwanitz G, Engels H. Gamerdinger U, et al. Among authors: schwanitz g. Eur J Med Genet. 2006 May-Jun;49(3):225-34. doi: 10.1016/j.ejmg.2005.07.002. Epub 2005 Aug 19. Eur J Med Genet. 2006. PMID: 16762824

10

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1).

Zahn S, Ehrbrecht A, Bosse K, Kalscheuer V, Propping P, Schwanitz G, Albrecht B, Engels H. Zahn S, et al. Among authors: schwanitz g. Am J Med Genet A. 2005 Nov 15;139(1):19-24. doi: 10.1002/ajmg.a.30995. Am J Med Genet A. 2005. PMID: 16222663

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