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Page 1
Distal 22q11.2 microduplication encompassing the BCR gene.
Descartes M, Franklin J, Diaz de Ståhl T, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM. Descartes M, et al. Among authors: dumanski jp. Am J Med Genet A. 2008 Dec 1;146A(23):3075-81. doi: 10.1002/ajmg.a.32572. Am J Med Genet A. 2008. PMID: 19006218
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.
Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, Diaz de Ståhl T, Menzel U, Sandgren J, von Tell D, Poplawski A, Crowley M, Crasto C, Partridge EC, Tiwari H, Allison DB, Komorowski J, van Ommen GJ, Boomsma DI, Pedersen NL, den Dunnen JT, Wirdefeldt K, Dumanski JP. Bruder CE, et al. Among authors: dumanski jp. Am J Hum Genet. 2008 Mar;82(3):763-71. doi: 10.1016/j.ajhg.2007.12.011. Epub 2008 Feb 14. Am J Hum Genet. 2008. PMID: 18304490 Free PMC article.
Somatic mosaicism for copy number variation in differentiated human tissues.
Piotrowski A, Bruder CE, Andersson R, Diaz de Ståhl T, Menzel U, Sandgren J, Poplawski A, von Tell D, Crasto C, Bogdan A, Bartoszewski R, Bebok Z, Krzyzanowski M, Jankowski Z, Partridge EC, Komorowski J, Dumanski JP. Piotrowski A, et al. Among authors: dumanski jp. Hum Mutat. 2008 Sep;29(9):1118-24. doi: 10.1002/humu.20815. Hum Mutat. 2008. PMID: 18570184
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
Mantripragada KK, Thuresson AC, Piotrowski A, Díaz de Ståhl T, Menzel U, Grigelionis G, Ferner RE, Griffiths S, Bolund L, Mautner V, Nordling M, Legius E, Vetrie D, Dahl N, Messiaen L, Upadhyaya M, Bruder CE, Dumanski JP. Mantripragada KK, et al. Among authors: dumanski jp. J Med Genet. 2006 Jan;43(1):28-38. doi: 10.1136/jmg.2005.033795. Epub 2005 Jun 8. J Med Genet. 2006. PMID: 15944227 Free PMC article.
Copy-number polymorphisms: mining the tip of an iceberg.
Buckley PG, Mantripragada KK, Piotrowski A, Diaz de Ståhl T, Dumanski JP. Buckley PG, et al. Among authors: dumanski jp. Trends Genet. 2005 Jun;21(6):315-7. doi: 10.1016/j.tig.2005.04.007. Trends Genet. 2005. PMID: 15922827 Review.
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.
Díaz de Ståhl T, Sandgren J, Piotrowski A, Nord H, Andersson R, Menzel U, Bogdan A, Thuresson AC, Poplawski A, von Tell D, Hansson CM, Elshafie AI, Elghazali G, Imreh S, Nordenskjöld M, Upadhyaya M, Komorowski J, Bruder CE, Dumanski JP. Díaz de Ståhl T, et al. Among authors: dumanski jp. Hum Mutat. 2008 Mar;29(3):398-408. doi: 10.1002/humu.20659. Hum Mutat. 2008. PMID: 18058796
Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array.
Nord H, Hartmann C, Andersson R, Menzel U, Pfeifer S, Piotrowski A, Bogdan A, Kloc W, Sandgren J, Olofsson T, Hesselager G, Blomquist E, Komorowski J, von Deimling A, Bruder CE, Dumanski JP, Díaz de Ståhl T. Nord H, et al. Among authors: dumanski jp. Neuro Oncol. 2009 Dec;11(6):803-18. doi: 10.1215/15228517-2009-013. Neuro Oncol. 2009. PMID: 19304958 Free PMC article.
159 results