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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: bruder ce. 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
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: bruder ce. 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.
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.
Buckley PG, Mantripragada KK, Benetkiewicz M, Tapia-Páez I, Diaz De Ståhl T, Rosenquist M, Ali H, Jarbo C, De Bustos C, Hirvelä C, Sinder Wilén B, Fransson I, Thyr C, Johnsson BI, Bruder CE, Menzel U, Hergersberg M, Mandahl N, Blennow E, Wedell A, Beare DM, Collins JE, Dunham I, Albertson D, Pinkel D, Bastian BC, Faruqi AF, Lasken RS, Ichimura K, Collins VP, Dumanski JP. Buckley PG, et al. Among authors: bruder ce. Hum Mol Genet. 2002 Dec 1;11(25):3221-9. doi: 10.1093/hmg/11.25.3221. Hum Mol Genet. 2002. PMID: 12444106
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: bruder ce. Hum Mutat. 2008 Mar;29(3):398-408. doi: 10.1002/humu.20659. Hum Mutat. 2008. PMID: 18058796
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. 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: bruder ce. Hum Mutat. 2008 Sep;29(9):1118-24. doi: 10.1002/humu.20815. Hum Mutat. 2008. PMID: 18570184
Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression.
Popławski AB, Jankowski M, Erickson SW, Díaz de Ståhl T, Partridge EC, Crasto C, Guo J, Gibson J, Menzel U, Bruder CE, Kaczmarczyk A, Benetkiewicz M, Andersson R, Sandgren J, Zegarska B, Bała D, Srutek E, Allison DB, Piotrowski A, Zegarski W, Dumanski JP. Popławski AB, et al. Among authors: bruder ce. Eur J Hum Genet. 2010 May;18(5):560-8. doi: 10.1038/ejhg.2009.230. Epub 2010 Jan 6. Eur J Hum Genet. 2010. PMID: 20051991 Free PMC article.
36 results