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Detectable clonal mosaicism and its relationship to aging and cancer.
Jacobs KB, Yeager M, Zhou W, Wacholder S, Wang Z, Rodriguez-Santiago B, Hutchinson A, Deng X, Liu C, Horner MJ, Cullen M, Epstein CG, Burdett L, Dean MC, Chatterjee N, Sampson J, Chung CC, Kovaks J, Gapstur SM, Stevens VL, Teras LT, Gaudet MM, Albanes D, Weinstein SJ, Virtamo J, Taylor PR, Freedman ND, Abnet CC, Goldstein AM, Hu N, Yu K, Yuan JM, Liao L, Ding T, Qiao YL, Gao YT, Koh WP, Xiang YB, Tang ZZ, Fan JH, Aldrich MC, Amos C, Blot WJ, Bock CH, Gillanders EM, Harris CC, Haiman CA, Henderson BE, Kolonel LN, Le Marchand L, McNeill LH, Rybicki BA, Schwartz AG, Signorello LB, Spitz MR, Wiencke JK, Wrensch M, Wu X, Zanetti KA, Ziegler RG, Figueroa JD, Garcia-Closas M, Malats N, Marenne G, Prokunina-Olsson L, Baris D, Schwenn M, Johnson A, Landi MT, Goldin L, Consonni D, Bertazzi PA, Rotunno M, Rajaraman P, Andersson U, Beane Freeman LE, Berg CD, Buring JE, Butler MA, Carreon T, Feychting M, Ahlbom A, Gaziano JM, Giles GG, Hallmans G, Hankinson SE, Hartge P, Henriksson R, Inskip PD, Johansen C, Landgren A, McKean-Cowdin R, Michaud DS, Melin BS, Peters U, Ruder AM, Sesso HD, Severi G, Shu XO, Visvanathan K, White E, Wolk A, Zeleniuch-Jacquotte A, Zheng W, Silverman DT, Kogevinas M,… See abstract for full author list ➔ Jacobs KB, et al. Nat Genet. 2012 May 6;44(6):651-8. doi: 10.1038/ng.2270. Nat Genet. 2012. PMID: 22561519 Free PMC article.
Direct tandem duplication in chromosome 19q characterized by array CGH.
Palomares Bralo M, Delicado A, Lapunzina P, Velázquez Fragua R, Villa O, Angeles Mori M, Luisa de Torres M, Fernández L, Pérez Jurado LA, López Pajares I. Palomares Bralo M, et al. Eur J Med Genet. 2008 May-Jun;51(3):257-63. doi: 10.1016/j.ejmg.2008.01.003. Epub 2008 Feb 2. Eur J Med Genet. 2008. PMID: 18342596
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.
Cuscó I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O, González E, Rodríguez-Santiago B, Vilella E, Del Campo M, Pérez-Jurado LA. Cuscó I, et al. Hum Mol Genet. 2009 May 15;18(10):1795-804. doi: 10.1093/hmg/ddp092. Epub 2009 Feb 26. Hum Mol Genet. 2009. PMID: 19246517 Free PMC article.
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.
Rodríguez-Santiago B, Malats N, Rothman N, Armengol L, Garcia-Closas M, Kogevinas M, Villa O, Hutchinson A, Earl J, Marenne G, Jacobs K, Rico D, Tardón A, Carrato A, Thomas G, Valencia A, Silverman D, Real FX, Chanock SJ, Pérez-Jurado LA. Rodríguez-Santiago B, et al. Am J Hum Genet. 2010 Jul 9;87(1):129-38. doi: 10.1016/j.ajhg.2010.06.002. Am J Hum Genet. 2010. PMID: 20598279 Free PMC article.
Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study.
Marenne G, Rodríguez-Santiago B, Closas MG, Pérez-Jurado L, Rothman N, Rico D, Pita G, Pisano DG, Kogevinas M, Silverman DT, Valencia A, Real FX, Chanock SJ, Génin E, Malats N. Marenne G, et al. Hum Mutat. 2011 Feb;32(2):240-8. doi: 10.1002/humu.21398. Epub 2011 Jan 25. Hum Mutat. 2011. PMID: 21089066 Free PMC article.
A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.
González JR, Cáceres A, Esko T, Cuscó I, Puig M, Esnaola M, Reina J, Siroux V, Bouzigon E, Nadif R, Reinmaa E, Milani L, Bustamante M, Jarvis D, Antó JM, Sunyer J, Demenais F, Kogevinas M, Metspalu A, Cáceres M, Pérez-Jurado LA. González JR, et al. Am J Hum Genet. 2014 Mar 6;94(3):361-72. doi: 10.1016/j.ajhg.2014.01.015. Epub 2014 Feb 20. Am J Hum Genet. 2014. PMID: 24560518 Free PMC article.
196 results