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Page 1
Congenital CLN disease in two siblings.
Meyer S, Yilmaz U, Kim YJ, Steinfeld R, Meyberg-Solomayer G, Oehl-Jaschkowitz B, Tzschach A, Gortner L, Igel J, Schofer O. Meyer S, et al. Among authors: tzschach a. Wien Med Wochenschr. 2015 May;165(9-10):210-3. doi: 10.1007/s10354-015-0359-4. Epub 2015 Jun 10. Wien Med Wochenschr. 2015. PMID: 26059544
Christianson syndrome in a patient with an interstitial Xq26.3 deletion.
Tzschach A, Ullmann R, Ahmed A, Martin T, Weber G, Decker-Schwering O, Pauly F, Shamdeen MG, Reith W, Oehl-Jaschkowitz B. Tzschach A, et al. Am J Med Genet A. 2011 Nov;155A(11):2771-4. doi: 10.1002/ajmg.a.34230. Epub 2011 Sep 19. Am J Med Genet A. 2011. PMID: 21932316
Next-generation sequencing in X-linked intellectual disability.
Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P. Tzschach A, et al. Eur J Hum Genet. 2015 Nov;23(11):1513-8. doi: 10.1038/ejhg.2015.5. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649377 Free PMC article.
The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.
Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznański J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM. Charzewska A, et al. Among authors: tzschach a. Clin Genet. 2018 Nov;94(5):450-456. doi: 10.1111/cge.13412. Epub 2018 Aug 9. Clin Genet. 2018. PMID: 30006928
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P. Giannandrea M, et al. Among authors: tzschach a. Am J Hum Genet. 2010 Feb 12;86(2):185-95. doi: 10.1016/j.ajhg.2010.01.011. Am J Hum Genet. 2010. PMID: 20159109 Free PMC article.
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Czeschik JC, Bauer P, Buiting K, Dufke C, Guillén-Navarro E, Johnson DS, Koehler U, López-González V, Lüdecke HJ, Male A, Morrogh D, Rieß A, Tzschach A, Wieczorek D, Kuechler A. Czeschik JC, et al. Among authors: tzschach a. Orphanet J Rare Dis. 2013 Sep 21;8:146. doi: 10.1186/1750-1172-8-146. Orphanet J Rare Dis. 2013. PMID: 24053514 Free PMC article.
147 results