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Page 1
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: diaz de stahl t. 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.
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: diaz de stahl t. 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
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: diaz de stahl t, de bustos c. Hum Mol Genet. 2002 Dec 1;11(25):3221-9. doi: 10.1093/hmg/11.25.3221. Hum Mol Genet. 2002. PMID: 12444106
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: diaz de stahl t. 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.
High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas.
Díaz de Ståhl T, Hansson CM, de Bustos C, Mantripragada KK, Piotrowski A, Benetkiewicz M, Jarbo C, Wiklund L, Mathiesen T, Nyberg G, Collins VP, Evans DG, Ichimura K, Dumanski JP. Díaz de Ståhl T, et al. Among authors: de bustos c. Hum Genet. 2005 Oct;118(1):35-44. doi: 10.1007/s00439-005-0002-3. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16078050
Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH.
Jarbo C, Buckley PG, Piotrowski A, Mantripragada KK, Benetkiewicz M, Diaz de Ståhl T, Langford CF, Gregory SG, Dralle H, Gimm O, Bäckdahl M, Geli J, Larsson C, Westin G, Akerström G, Dumanski JP. Jarbo C, et al. Among authors: diaz de stahl t. Int J Cancer. 2006 Mar 1;118(5):1159-64. doi: 10.1002/ijc.21385. Int J Cancer. 2006. PMID: 16161042
47 results