Trautmann U - Search Results

1

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.

Hoyer J, Dreweke A, Becker C, Göhring I, Thiel CT, Peippo MM, Rauch R, Hofbeck M, Trautmann U, Zweier C, Zenker M, Hüffmeier U, Kraus C, Ekici AB, Rüschendorf F, Nürnberg P, Reis A, Rauch A. Hoyer J, et al. Among authors: trautmann u. J Med Genet. 2007 Oct;44(10):629-36. doi: 10.1136/jmg.2007.050914. Epub 2007 Jun 29. J Med Genet. 2007. PMID: 17601928 Free PMC article.

2

Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11).

Zenker M, Wermuth B, Trautmann U, Knerr I, Kraus C, Rauch A, Reis A. Zenker M, et al. Among authors: trautmann u. Am J Med Genet A. 2005 Jan 15;132A(2):185-8. doi: 10.1002/ajmg.a.30414. Am J Med Genet A. 2005. PMID: 15578616

3

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, Zenker M, Hüffmeier U, Thiel C, Rüschendorf F, Nürnberg P, Reis A, Trautmann U. Rauch A, et al. Among authors: trautmann u. Am J Med Genet A. 2006 Oct 1;140(19):2063-74. doi: 10.1002/ajmg.a.31416. Am J Med Genet A. 2006. PMID: 16917849

4

A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.

Melichar VO, Guth S, Hellebrand H, Meindl A, von der Hardt K, Kraus C, Trautmann U, Rascher W, Rauch A, Zenker M. Melichar VO, et al. Among authors: trautmann u. Am J Med Genet A. 2007 Jan 15;143A(2):135-41. doi: 10.1002/ajmg.a.31451. Am J Med Genet A. 2007. PMID: 17163525

5

A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome.

Zweier C, Trautmann U, Ekici A, Rauch A. Zweier C, et al. Among authors: trautmann u. Eur J Med Genet. 2008 Jul-Aug;51(4):358-61. doi: 10.1016/j.ejmg.2008.01.005. Epub 2008 Feb 8. Eur J Med Genet. 2008. PMID: 18342594

6

A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.

Thiel CT, Dörr HG, Trautmann U, Hoyer J, Hofmann K, Kraus C, Ekici AB, Reis A, Rauch A. Thiel CT, et al. Among authors: trautmann u. Eur J Med Genet. 2008 Jul-Aug;51(4):362-7. doi: 10.1016/j.ejmg.2008.03.001. Epub 2008 Mar 20. Eur J Med Genet. 2008. PMID: 18434272

7

6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development.

Göhring I, Blümlein HM, Hoyer J, Ekici AB, Trautmann U, Rauch A. Göhring I, et al. Among authors: trautmann u. Eur J Med Genet. 2008 Nov-Dec;51(6):666-71. doi: 10.1016/j.ejmg.2008.07.009. Epub 2008 Aug 12. Eur J Med Genet. 2008. PMID: 18757044

8

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies.

Göhring I, Tagariello A, Endele S, Stolt CC, Ghassibé M, Fisher M, Thiel CT, Trautmann U, Vikkula M, Winterpacht A, FitzPatrick DR, Rauch A. Göhring I, et al. Among authors: trautmann u. J Med Genet. 2010 Feb;47(2):91-8. doi: 10.1136/jmg.2009.069799. Epub 2009 Oct 19. J Med Genet. 2010. PMID: 19843505

9

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.

Zahnleiter D, Trautmann U, Ekici AB, Goehring I, Reis A, Dörr HG, Rauch A, Thiel CT. Zahnleiter D, et al. Among authors: trautmann u. Eur J Med Genet. 2011 Sep-Oct;54(5):e521-4. doi: 10.1016/j.ejmg.2011.06.007. Epub 2011 Jul 12. Eur J Med Genet. 2011. PMID: 21777705

10

Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome".

Rauch A, Trautmann U, Pfeiffer RA. Rauch A, et al. Among authors: trautmann u. Am J Med Genet. 1996 May 3;63(1):243-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<243::AID-AJMG42>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 8723117 Review.

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