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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J. Yokote K, et al. Among authors: schindler d. Hum Mutat. 2017 Jan;38(1):7-15. doi: 10.1002/humu.23128. Epub 2016 Oct 7. Hum Mutat. 2017. PMID: 27667302 Free PMC article. Review.
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
Dutrannoy V, Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, Gillessen-Kaesbach G, Radszewski J, Rothe S, Schellenberger MT, Nürnberg G, Nürnberg P, Teik KW, Nallusamy R, Reis A, Sperling K, Digweed M, Varon R. Dutrannoy V, et al. Among authors: schindler d. Hum Mutat. 2010 Sep;31(9):1059-68. doi: 10.1002/humu.21315. Hum Mutat. 2010. PMID: 20597108
RAG1 deficiency with a shifting B cell phenotype and chromosomal instability.
Ghosh S, Hönscheid A, Schwarz K, Eirich K, Schindler D, Schönberger S, Speckmann C, Borkhardt A, Laws HJ. Ghosh S, et al. Among authors: schindler d. Clin Immunol. 2014 May-Jun;152(1-2):65-7. doi: 10.1016/j.clim.2014.02.009. Epub 2014 Feb 26. Clin Immunol. 2014. PMID: 24583411 No abstract available.
siRNA screening identifies differences in the Fanconi anemia pathway in BALB/c-Trp53+/- with susceptibility versus C57BL/6-Trp53+/- mice with resistance to mammary tumors.
Böhringer M, Obermeier K, Griner N, Waldraff D, Dickinson E, Eirich K, Schindler D, Hagen M, Jerry DJ, Wiesmüller L. Böhringer M, et al. Among authors: schindler d. Oncogene. 2013 Nov 28;32(48):5458-70. doi: 10.1038/onc.2013.38. Epub 2013 Feb 25. Oncogene. 2013. PMID: 23435420 Free PMC article.
Hepatoblastoma in a 4-year-old girl with Fanconi anaemia.
Kopic S, Eirich K, Schuster B, Hanenberg H, Varon-Mateeva R, Rittinger O, Schimpl G, Schindler D, Jones N. Kopic S, et al. Among authors: schindler d. Acta Paediatr. 2011 May;100(5):780-3. doi: 10.1111/j.1651-2227.2010.02116.x. Epub 2011 Jan 12. Acta Paediatr. 2011. PMID: 21138478
Exploring the role of oxygen in Fanconi's anemia.
Liebetrau W, Rünge TM, Baumer A, Henning C, Gross O, Schindler D, Poot M, Hoehn H. Liebetrau W, et al. Among authors: schindler d. Recent Results Cancer Res. 1997;143:353-67. doi: 10.1007/978-3-642-60393-8_25. Recent Results Cancer Res. 1997. PMID: 8912432 Review. No abstract available.
506 results