Klopocki E - Search Results

1

Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma.

Smetsers S, Muter J, Bristow C, Patel L, Chandler K, Bonney D, Wynn RF, Whetton AD, Will AM, Rockx D, Joenje H, Strathdee G, Shanks J, Klopocki E, Gille JJ, Dorsman J, Meyer S. Smetsers S, et al. Among authors: klopocki e. Fam Cancer. 2012 Dec;11(4):661-5. doi: 10.1007/s10689-012-9553-3. Fam Cancer. 2012. PMID: 22829014

2

Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption.

Meyer S, Fergusson WD, Whetton AD, Moreira-Leite F, Pepper SD, Miller C, Saunders EK, White DJ, Will AM, Eden T, Ikeda H, Ullmann R, Tuerkmen S, Gerlach A, Klopocki E, Tönnies H. Meyer S, et al. Among authors: klopocki e. Genes Chromosomes Cancer. 2007 Apr;46(4):359-72. doi: 10.1002/gcc.20417. Genes Chromosomes Cancer. 2007. PMID: 17243162

3

Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D. Muhn F, et al. Among authors: klopocki e. Clin Genet. 2013 Dec;84(6):531-8. doi: 10.1111/cge.12106. Epub 2013 Feb 21. Clin Genet. 2013. PMID: 23425300

4

Characterization of six Merkel cell polyomavirus-positive Merkel cell carcinoma cell lines: Integration pattern suggest that large T antigen truncating events occur before or during integration.

Schrama D, Sarosi EM, Adam C, Ritter C, Kaemmerer U, Klopocki E, König EM, Utikal J, Becker JC, Houben R. Schrama D, et al. Among authors: klopocki e. Int J Cancer. 2019 Aug 15;145(4):1020-1032. doi: 10.1002/ijc.32280. Epub 2019 Apr 4. Int J Cancer. 2019. PMID: 30873613

5

Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia.

Ott CE, Hein H, Lohan S, Hoogeboom J, Foulds N, Grünhagen J, Stricker S, Villavicencio-Lorini P, Klopocki E, Mundlos S. Ott CE, et al. Among authors: klopocki e. J Med Genet. 2012 Jul;49(7):437-41. doi: 10.1136/jmedgenet-2012-100825. Epub 2012 Jun 20. J Med Genet. 2012. PMID: 22717651

6

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Am J Med Genet A. 2006 Apr 15;140(8):873-7. doi: 10.1002/ajmg.a.31163. Am J Med Genet A. 2006. PMID: 16528753

7

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Eur J Hum Genet. 2006 Dec;14(12):1274-9. doi: 10.1038/sj.ejhg.5201696. Epub 2006 Aug 9. Eur J Hum Genet. 2006. PMID: 16896345

8

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R. Klopocki E, et al. Eur J Pediatr. 2008 Aug;167(8):903-8. doi: 10.1007/s00431-007-0616-7. Epub 2007 Oct 12. Eur J Pediatr. 2008. PMID: 17932688 Free PMC article.

9

A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures.

Busche A, Klopocki E, Ullmann R, Mundlos S, Horn D. Busche A, et al. Among authors: klopocki e. Eur J Med Genet. 2008 Nov-Dec;51(6):615-21. doi: 10.1016/j.ejmg.2008.06.006. Epub 2008 Jul 12. Eur J Med Genet. 2008. PMID: 18674647

10

A BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE-1.

Türkmen S, Riehn M, Klopocki E, Molkentin M, Reinhardt R, Burmeister T. Türkmen S, et al. Among authors: klopocki e. Genes Chromosomes Cancer. 2011 Jun;50(6):389-96. doi: 10.1002/gcc.20863. Epub 2011 Mar 15. Genes Chromosomes Cancer. 2011. PMID: 21412927

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