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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: siebert r. Epilepsia. 2010 Sep;51(9):1870-3. doi: 10.1111/j.1528-1167.2010.02555.x. Epilepsia. 2010. PMID: 20384727 Free article.
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: siebert r. 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.
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: siebert r. 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
Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.
Mitter D, Chiaie BD, Lüdecke HJ, Gillessen-Kaesbach G, Bohring A, Kohlhase J, Caliebe A, Siebert R, Roepke A, Ramos-Arroyo MA, Nieva B, Menten B, Loeys B, Mortier G, Wieczorek D. Mitter D, et al. Among authors: siebert r. Am J Med Genet A. 2010 May;152A(5):1213-24. doi: 10.1002/ajmg.a.33344. Am J Med Genet A. 2010. PMID: 20425826
770 results