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Very mild cases of Rett syndrome with skewed X inactivation.
Huppke P, Maier EM, Warnke A, Brendel C, Laccone F, Gärtner J. Huppke P, et al. Among authors: brendel c. J Med Genet. 2006 Oct;43(10):814-6. doi: 10.1136/jmg.2006.042077. Epub 2006 May 11. J Med Genet. 2006. PMID: 16690727 Free PMC article.
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J. Huppke P, et al. Among authors: brendel c. Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030. Am J Hum Genet. 2012. PMID: 22243965 Free PMC article.
Characterization of Staufen 1 ribonucleoprotein complexes.
Brendel C, Rehbein M, Kreienkamp HJ, Buck F, Richter D, Kindler S. Brendel C, et al. Biochem J. 2004 Dec 1;384(Pt 2):239-46. doi: 10.1042/BJ20040812. Biochem J. 2004. PMID: 15303970 Free PMC article.
Transcription factor IRF4 determines germinal center formation through follicular T-helper cell differentiation.
Bollig N, Brüstle A, Kellner K, Ackermann W, Abass E, Raifer H, Camara B, Brendel C, Giel G, Bothur E, Huber M, Paul C, Elli A, Kroczek RA, Nurieva R, Dong C, Jacob R, Mak TW, Lohoff M. Bollig N, et al. Among authors: brendel c. Proc Natl Acad Sci U S A. 2012 May 29;109(22):8664-9. doi: 10.1073/pnas.1205834109. Epub 2012 May 2. Proc Natl Acad Sci U S A. 2012. PMID: 22552227 Free PMC article.
150 results