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Page 1
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperaviciūte D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Gumbs CE, Smith J, Cronin KD, Maia JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kälviäinen R, Eriksson K, Kantanen AM, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Wieser HG, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB. Heinzen EL, et al. Among authors: buckley pg. Am J Hum Genet. 2010 May 14;86(5):707-18. doi: 10.1016/j.ajhg.2010.03.018. Epub 2010 Apr 15. Am J Hum Genet. 2010. PMID: 20398883 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. Hum Mol Genet. 2002 Dec 1;11(25):3221-9. doi: 10.1093/hmg/11.25.3221. Hum Mol Genet. 2002. PMID: 12444106
Oncogenic activation of FOXR1 by 11q23 intrachromosomal deletion-fusions in neuroblastoma.
Santo EE, Ebus ME, Koster J, Schulte JH, Lakeman A, van Sluis P, Vermeulen J, Gisselsson D, Øra I, Lindner S, Buckley PG, Stallings RL, Vandesompele J, Eggert A, Caron HN, Versteeg R, Molenaar JJ. Santo EE, et al. Among authors: buckley pg. Oncogene. 2012 Mar 22;31(12):1571-81. doi: 10.1038/onc.2011.344. Epub 2011 Aug 22. Oncogene. 2012. PMID: 21860421
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: buckley pg. Int J Cancer. 2006 Mar 1;118(5):1159-64. doi: 10.1002/ijc.21385. Int J Cancer. 2006. PMID: 16161042 Free article.
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.
Buckley PG, Mantripragada KK, Díaz de Ståhl T, Piotrowski A, Hansson CM, Kiss H, Vetrie D, Ernberg IT, Nordenskjöld M, Bolund L, Sainio M, Rouleau GA, Niimura M, Wallace AJ, Evans DG, Grigelionis G, Menzel U, Dumanski JP. Buckley PG, et al. Hum Mutat. 2005 Dec;26(6):540-9. doi: 10.1002/humu.20255. Hum Mutat. 2005. PMID: 16287142
56 results