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Page 1
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmüller J, Li Y, Wollnik B, Hoganson G, Plona MR, Cho MT; Deciphering Developmental Disorders Study; Thiel CT, Lüdecke HJ, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB, Reis A. Vasileiou G, et al. Among authors: buttner c. Am J Hum Genet. 2018 Mar 1;102(3):468-479. doi: 10.1016/j.ajhg.2018.01.014. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429572 Free PMC article.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, Büttner C, Cremer K, Czeschik JC, Engels H, van Gassen K, Graf E, van Haelst M, He W, Hogue JS, Kempers M, Koolen D, Monroe G, de Munnik S, Pastore M, Reis A, Reuter MS, Tegay DH, Veltman J, Visser G, van Hasselt P, Smeets EE, Vissers L, Wieland T, Wissink W, Yntema H, Zink AM, Strom TM, Lüdecke HJ, Kleefstra T, Wieczorek D. Kuechler A, et al. Among authors: buttner c. Hum Genet. 2015 Jan;134(1):97-109. doi: 10.1007/s00439-014-1498-1. Epub 2014 Oct 19. Hum Genet. 2015. PMID: 25326669
α-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy.
Ettle B, Kerman BE, Valera E, Gillmann C, Schlachetzki JC, Reiprich S, Büttner C, Ekici AB, Reis A, Wegner M, Bäuerle T, Riemenschneider MJ, Masliah E, Gage FH, Winkler J. Ettle B, et al. Among authors: buttner c. Acta Neuropathol. 2016 Jul;132(1):59-75. doi: 10.1007/s00401-016-1572-y. Epub 2016 Apr 8. Acta Neuropathol. 2016. PMID: 27059609 Free PMC article.
Hyperandrogenemia and high prolactin in congenital utero-vaginal aplasia patients.
Oppelt PG, Müller A, Stephan L, Dittrich R, Lermann J, Büttner C, Ekici AB, Conzelmann G, Seeger H, Schöller D, Rall K, Beckmann MW, Strissel PL, Brucker SY, Strick R. Oppelt PG, et al. Among authors: buttner c. Reproduction. 2017 May;153(5):555-563. doi: 10.1530/REP-16-0408. Epub 2017 Feb 28. Reproduction. 2017. PMID: 28246310
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT. Hauer NN, et al. Among authors: buttner c. Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29758562 Free PMC article.
177 results