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Page 1
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy.
Muhle H, Steinich I, von Spiczak S, Franke A, Weber Y, Lerche H, Wittig M, Heidemann S, Suls A, de Jonghe P, Marini C, Guerrini R, Scheffer IE, Berkovic SF, Stephani U, Siebert R, Sander T, Helbig I, Tönnies H. Muhle H, et al. Among authors: tonnies h. Epilepsia. 2010 Dec;51(12):2453-6. doi: 10.1111/j.1528-1167.2010.02712.x. Epub 2010 Sep 24. Epilepsia. 2010. PMID: 21204805 Free article.
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.
Reutlinger C, Helbig I, Gawelczyk B, Subero JI, Tönnies H, Muhle H, Finsterwalder K, Vermeer S, Pfundt R, Sperner J, Stefanova I, Gillessen-Kaesbach G, von Spiczak S, van Baalen A, Boor R, Siebert R, Stephani U, Caliebe A. Reutlinger C, et al. Among authors: tonnies h. Epilepsia. 2010 Sep;51(9):1870-3. doi: 10.1111/j.1528-1167.2010.02555.x. Epilepsia. 2010. PMID: 20384727 Free article.
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tönnies H, van 't Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M. Caliebe A, et al. Among authors: tonnies h. Eur J Med Genet. 2010 Jul-Aug;53(4):179-85. doi: 10.1016/j.ejmg.2010.04.001. Epub 2010 Apr 9. Eur J Med Genet. 2010. PMID: 20382278
Deregulation of the telomerase reverse transcriptase (TERT) gene by chromosomal translocations in B-cell malignancies.
Nagel I, Szczepanowski M, Martín-Subero JI, Harder L, Akasaka T, Ammerpohl O, Callet-Bauchu E, Gascoyne RD, Gesk S, Horsman D, Klapper W, Majid A, Martinez-Climent JA, Stilgenbauer S, Tönnies H, Dyer MJ, Siebert R. Nagel I, et al. Among authors: tonnies h. Blood. 2010 Aug 26;116(8):1317-20. doi: 10.1182/blood-2009-09-240440. Epub 2010 May 11. Blood. 2010. PMID: 20460502 Free article.
Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15.
Weissbach A, Djarmati A, Klein C, Dragasević N, Zühlke C, Raković A, Guzvić M, Butz E, Tönnies H, Siebert R, Petrović I, Svetel M, Kostić VS, Lohmann K. Weissbach A, et al. Among authors: tonnies h. Mov Disord. 2010 Aug 15;25(11):1577-82. doi: 10.1002/mds.22857. Mov Disord. 2010. PMID: 20589871
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
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C. Lohmann K, et al. Among authors: tonnies h. JAMA Neurol. 2017 Jul 1;74(7):806-812. doi: 10.1001/jamaneurol.2017.0666. JAMA Neurol. 2017. PMID: 28558098 Free PMC article.
Autosomal dominant Parkinson's disease in a large German pedigree.
Brüggemann N, Külper W, Hagenah J, Bauer P, Pattaro C, Tadic V, Lohnau T, Winkler S, Tönnies H, Sprenger A, Pramstaller P, Rolfs A, Siebert R, Riess O, Vieregge P, Lohmann K, Klein C. Brüggemann N, et al. Among authors: tonnies h. Acta Neurol Scand. 2012 Aug;126(2):129-37. doi: 10.1111/j.1600-0404.2011.01621.x. Epub 2011 Nov 23. Acta Neurol Scand. 2012. PMID: 22107061
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