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Spectrum of small length germline mutations in the RB1 gene.
Lohmann DR, Brandt B, Höpping W, Passarge E, Horsthemke B. Lohmann DR, et al. Hum Mol Genet. 1994 Dec;3(12):2187-93. doi: 10.1093/hmg/3.12.2187. Hum Mol Genet. 1994. PMID: 7881418
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.
Mitter D, Ullmann R, Muradyan A, Klein-Hitpass L, Kanber D, Ounap K, Kaulisch M, Lohmann D. Mitter D, et al. Eur J Hum Genet. 2011 Sep;19(9):947-58. doi: 10.1038/ejhg.2011.58. Epub 2011 Apr 20. Eur J Hum Genet. 2011. PMID: 21505449 Free PMC article.
Human PPP1R26P1 functions as cis-repressive element in mouse Rb1.
Steenpass L, Kanber D, Hiber M, Buiting K, Horsthemke B, Lohmann D. Steenpass L, et al. PLoS One. 2013 Sep 3;8(9):e74159. doi: 10.1371/journal.pone.0074159. eCollection 2013. PLoS One. 2013. PMID: 24019952 Free PMC article.
The origin of the RB1 imprint.
Kanber D, Buiting K, Roos C, Gromoll J, Kaya S, Horsthemke B, Lohmann D. Kanber D, et al. PLoS One. 2013 Nov 25;8(11):e81502. doi: 10.1371/journal.pone.0081502. eCollection 2013. PLoS One. 2013. PMID: 24282601 Free PMC article.
Clinical utility gene card for: retinoblastoma.
Lohmann D, Gallie B, Dommering C, Gauthier-Villars M. Lohmann D, et al. Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.200. Epub 2010 Dec 8. Eur J Hum Genet. 2011. PMID: 21150892 Free PMC article. No abstract available.
Retinoblastoma.
Lohmann D. Lohmann D. Adv Exp Med Biol. 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. Adv Exp Med Biol. 2010. PMID: 20687510 Review.
The human retinoblastoma gene is imprinted.
Kanber D, Berulava T, Ammerpohl O, Mitter D, Richter J, Siebert R, Horsthemke B, Lohmann D, Buiting K. Kanber D, et al. PLoS Genet. 2009 Dec;5(12):e1000790. doi: 10.1371/journal.pgen.1000790. Epub 2009 Dec 24. PLoS Genet. 2009. PMID: 20041224 Free PMC article.
Imprinting of RB1 (the new kid on the block).
Buiting K, Kanber D, Horsthemke B, Lohmann D. Buiting K, et al. Brief Funct Genomics. 2010 Jul;9(4):347-53. doi: 10.1093/bfgp/elq014. Epub 2010 Jun 15. Brief Funct Genomics. 2010. PMID: 20551090 Review.
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