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Page 1
Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.
Sci Rep. 2022 Aug 5;12(1):13507. doi: 10.1038/s41598-022-17604-2.
Sci Rep. 2022.
PMID: 35931711
Free PMC article.
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Zacher P, Mayer T, Brandhoff F, Bartolomaeus T, Le Duc D, Finzel M, Heinze A, Horn S, Klöckner C, Körber G, Hentschel J, Kalita M, Krey I, Nastainczyk-Wulf M, Platzer K, Rebstock J, Popp B, Stiller M, Teichmann AC, Jamra RA, Lemke JR.
Zacher P, et al. Among authors: teichmann ac.
Genet Med. 2021 Aug;23(8):1492-1497. doi: 10.1038/s41436-021-01153-6. Epub 2021 Apr 28.
Genet Med. 2021.
PMID: 33911214
Free PMC article.
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A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik M, Schöls L, Schüle R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR.
Helbig KL, et al. Among authors: teichmann ac.
Ann Neurol. 2016 Oct;80(4):638-42. doi: 10.1002/ana.24762. Epub 2016 Sep 9.
Ann Neurol. 2016.
PMID: 27543892
Free PMC article.
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Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones.
Mrasek K, Schoder C, Teichmann AC, Behr K, Franze B, Wilhelm K, Blaurock N, Claussen U, Liehr T, Weise A.
Mrasek K, et al. Among authors: teichmann ac.
Int J Oncol. 2010 Apr;36(4):929-40. doi: 10.3892/ijo_00000572.
Int J Oncol. 2010.
PMID: 20198338
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Inversion 3 Cytogenetic Abnormality in an Allogeneic Hematopoietic Cell Transplant Recipient Representative of a Donor-Derived Constitutional Abnormality.
Dias A, Al-Kali A, Van Dyke D, Niederwieser D, Vucinic V, Lemke J, Muller C, Schwind S, Teichmann AC, Bakken R, Burns LJ, Litzow M.
Dias A, et al. Among authors: teichmann ac.
Biol Blood Marrow Transplant. 2017 Sep;23(9):1582-1587. doi: 10.1016/j.bbmt.2017.05.019. Epub 2017 May 23.
Biol Blood Marrow Transplant. 2017.
PMID: 28549770
Free article.
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Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G.
Kim GJ, et al. Among authors: teichmann ac.
J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20.
J Med Genet. 2015.
PMID: 25604083
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