Tönnies H - Search Results

1

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Among authors: tonnies h. Am J Med Genet A. 2006 Apr 15;140(8):873-7. doi: 10.1002/ajmg.a.31163. Am J Med Genet A. 2006. PMID: 16528753

2

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Among authors: tonnies h. Eur J Hum Genet. 2006 Dec;14(12):1274-9. doi: 10.1038/sj.ejhg.5201696. Epub 2006 Aug 9. Eur J Hum Genet. 2006. PMID: 16896345

3

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R. Klopocki E, et al. Among authors: tonnies h. Eur J Pediatr. 2008 Aug;167(8):903-8. doi: 10.1007/s00431-007-0616-7. Epub 2007 Oct 12. Eur J Pediatr. 2008. PMID: 17932688 Free PMC article.

4

Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis.

Stumm M, Klopocki E, Gasiorek-Wiens A, Knoll U, Wirjadi D, Sarioglu N, Wegner RD, Tönnies H. Stumm M, et al. Among authors: tonnies h. Prenat Diagn. 2007 May;27(5):475-8. doi: 10.1002/pd.1703. Prenat Diagn. 2007. PMID: 17330228 Review.

5

Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome.

Borck G, Wirth J, Hardt T, Tönnies H, Brøndum-Nielsen K, Bugge M, Tommerup N, Nothwang HG, Ropers HH, Haaf T. Borck G, et al. Among authors: tonnies h. J Med Genet. 2001 Feb;38(2):117-21. doi: 10.1136/jmg.38.2.117. J Med Genet. 2001. PMID: 11288711 Free PMC article. No abstract available.

6

Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.

Bürger J, Horn D, Tönnies H, Neitzel H, Reis A. Bürger J, et al. Among authors: tonnies h. Am J Med Genet. 2002 Aug 15;111(3):233-7. doi: 10.1002/ajmg.10498. Am J Med Genet. 2002. PMID: 12210318

7

Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature.

Tönnies H, Neumann LM, Grüneberg B, Neitzel H. Tönnies H, et al. Am J Med Genet A. 2003 Aug 30;121A(2):163-7. doi: 10.1002/ajmg.a.20225. Am J Med Genet A. 2003. PMID: 12910498

8

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K. Endele S, et al. Among authors: tonnies h. Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890276

9

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.

Horn D, Neitzel H, Tönnies H, Kalscheuer V, Kunze J, Hinkel GK, Bartsch O. Horn D, et al. Among authors: tonnies h. Am J Med Genet A. 2003 Mar 15;117A(3):236-44. doi: 10.1002/ajmg.a.10017. Am J Med Genet A. 2003. PMID: 12599186 Review.

10

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

Horn D, Tönnies H, Neitzel H, Wahl D, Hinkel GK, von Moers A, Bartsch O. Horn D, et al. Among authors: tonnies h. Am J Med Genet A. 2004 Jul 1;128A(1):85-92. doi: 10.1002/ajmg.a.30031. Am J Med Genet A. 2004. PMID: 15211664

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