Tzschach A - Search Results

1

12q24.33 deletion: report of a patient with intellectual disability and review of the literature.

Kehrer M, Singer S, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Schöning M, Tzschach A. Kehrer M, et al. Among authors: tzschach a. Am J Med Genet A. 2013 Jun;161A(6):1409-13. doi: 10.1002/ajmg.a.35877. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613162 Review.

2

Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype.

Kotzot D, Dufke A, Tzschach A, Baeckert-Sifeddine IT, Geppert M, Holland H, Florus JM, Froster UG. Kotzot D, et al. Among authors: tzschach a. Am J Med Genet. 2002 Sep 15;112(1):51-5. doi: 10.1002/ajmg.10612. Am J Med Genet. 2002. PMID: 12239720

3

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.

Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H. Garshasbi M, et al. Among authors: tzschach a. Hum Genet. 2006 Feb;118(6):708-15. doi: 10.1007/s00439-005-0104-y. Epub 2005 Nov 26. Hum Genet. 2006. PMID: 16311745

4

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.

Tzschach A, Krause-Plonka I, Menzel C, Kalscheuer V, Toennies H, Scherthan H, Knoblauch A, Radke M, Ropers HH, Hoeltzenbein M. Tzschach A, et al. Am J Med Genet A. 2006 Mar 1;140(5):496-502. doi: 10.1002/ajmg.a.31105. Am J Med Genet A. 2006. PMID: 16470790

5

Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.

Tzschach A, Krause-Plonka I, Menzel C, Knoblauch A, Toennies H, Hoeltzenbein M, Radke M, Ropers HH, Kalscheuer V. Tzschach A, et al. Am J Med Genet A. 2006 May 15;140(10):1108-10. doi: 10.1002/ajmg.a.31226. Am J Med Genet A. 2006. PMID: 16619204

6

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.

Erdogan F, Ullmann R, Chen W, Schubert M, Adolph S, Hultschig C, Kalscheuer V, Ropers HH, Spaich C, Tzschach A. Erdogan F, et al. Among authors: tzschach a. Am J Med Genet A. 2007 Jan 15;143A(2):172-8. doi: 10.1002/ajmg.a.31541. Am J Med Genet A. 2007. PMID: 17163532

7

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann LM, Tzschach A, Shoichet SA, Menzel C, Erdogan F, Arkesteijn G, Ropers HH, Ullmann R. Kalscheuer VM, et al. Among authors: tzschach a. Hum Genet. 2007 May;121(3-4):501-9. doi: 10.1007/s00439-006-0284-0. Epub 2007 Jan 9. Hum Genet. 2007. PMID: 17211639

8

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

Tzschach A, Menzel C, Erdogan F, Schubert M, Hoeltzenbein M, Barbi G, Petzenhauser C, Ropers HH, Ullmann R, Kalscheuer V. Tzschach A, et al. Am J Med Genet A. 2007 Feb 15;143(4):333-7. doi: 10.1002/ajmg.a.31601. Am J Med Genet A. 2007. PMID: 17230488

9

Characterization of interstitial Xp duplications in two families by tiling path array CGH.

Tzschach A, Chen W, Erdogan F, Hoeller A, Ropers HH, Castellan C, Ullmann R, Schinzel A. Tzschach A, et al. Am J Med Genet A. 2008 Jan 15;146A(2):197-203. doi: 10.1002/ajmg.a.32070. Am J Med Genet A. 2008. PMID: 18076117

10

Chromosome deletions in 13q33-34: report of four patients and review of the literature.

Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A. Walczak-Sztulpa J, et al. Among authors: tzschach a. Am J Med Genet A. 2008 Feb 1;146A(3):337-42. doi: 10.1002/ajmg.a.32127. Am J Med Genet A. 2008. PMID: 18203171 Review.

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