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66 results
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Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma.
Genuardi M, Klutz M, Devriendt K, Caruso D, Stirpe M, Lohmann DR. Genuardi M, et al. Among authors: lohmann dr. Eur J Hum Genet. 2001 Sep;9(9):690-4. doi: 10.1038/sj.ejhg.5200694. Eur J Hum Genet. 2001. PMID: 11571558
Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies.
Rushlow DE, Mol BM, Kennett JY, Yee S, Pajovic S, Thériault BL, Prigoda-Lee NL, Spencer C, Dimaras H, Corson TW, Pang R, Massey C, Godbout R, Jiang Z, Zacksenhaus E, Paton K, Moll AC, Houdayer C, Raizis A, Halliday W, Lam WL, Boutros PC, Lohmann D, Dorsman JC, Gallie BL. Rushlow DE, et al. Lancet Oncol. 2013 Apr;14(4):327-34. doi: 10.1016/S1470-2045(13)70045-7. Epub 2013 Mar 13. Lancet Oncol. 2013. PMID: 23498719
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.
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.
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.
Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.
Zhang K, Nowak I, Rushlow D, Gallie BL, Lohmann DR. Zhang K, et al. Among authors: lohmann dr. Hum Mutat. 2008 Apr;29(4):475-84. doi: 10.1002/humu.20664. Hum Mutat. 2008. PMID: 18181215
Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma.
Mitter D, Rushlow D, Nowak I, Ansperger-Rescher B, Gallie BL, Lohmann DR. Mitter D, et al. Among authors: lohmann dr. Fam Cancer. 2009;8(1):55-8. doi: 10.1007/s10689-008-9198-4. Epub 2008 May 29. Fam Cancer. 2009. PMID: 18509746
Genomic gains on chromosome 1q in retinoblastoma: consequences on gene expression and association with clinical manifestation.
Gratias S, Schüler A, Hitpass LK, Stephan H, Rieder H, Schneider S, Horsthemke B, Lohmann DR. Gratias S, et al. Among authors: lohmann dr. Int J Cancer. 2005 Sep 10;116(4):555-63. doi: 10.1002/ijc.21051. Int J Cancer. 2005. PMID: 15825178
Detection of chromosomal imbalances in retinoblastoma by matrix-based comparative genomic hybridization.
Zielinski B, Gratias S, Toedt G, Mendrzyk F, Stange DE, Radlwimmer B, Lohmann DR, Lichter P. Zielinski B, et al. Among authors: lohmann dr. Genes Chromosomes Cancer. 2005 Jul;43(3):294-301. doi: 10.1002/gcc.20186. Genes Chromosomes Cancer. 2005. PMID: 15834944
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