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Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.
Daly AF, Yuan B, Fina F, Caberg JH, Trivellin G, Rostomyan L, de Herder WW, Naves LA, Metzger D, Cuny T, Rabl W, Shah N, Jaffrain-Rea ML, Zatelli MC, Faucz FR, Castermans E, Nanni-Metellus I, Lodish M, Muhammad A, Palmeira L, Potorac I, Mantovani G, Neggers SJ, Klein M, Barlier A, Liu P, Ouafik L, Bours V, Lupski JR, Stratakis CA, Beckers A. Daly AF, et al. Among authors: lupski jr. Endocr Relat Cancer. 2016 Apr;23(4):221-33. doi: 10.1530/ERC-16-0082. Epub 2016 Mar 2. Endocr Relat Cancer. 2016. PMID: 26935837 Free PMC article.
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. Carvalho CM, et al. Among authors: lupski jr. Hum Mol Genet. 2009 Jun 15;18(12):2188-203. doi: 10.1093/hmg/ddp151. Epub 2009 Mar 26. Hum Mol Genet. 2009. PMID: 19324899 Free PMC article.
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR. Zhang F, et al. Among authors: lupski jr. Am J Hum Genet. 2010 Mar 12;86(3):462-70. doi: 10.1016/j.ajhg.2010.02.001. Epub 2010 Feb 25. Am J Hum Genet. 2010. PMID: 20188345 Free PMC article.
Cardiovascular findings in duplication 17p11.2 syndrome.
Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L. Jefferies JL, et al. Among authors: lupski jr. Genet Med. 2012 Jan;14(1):90-4. doi: 10.1038/gim.0b013e3182329723. Epub 2011 Oct 17. Genet Med. 2012. PMID: 22237436 Free PMC article.
Mechanisms for recurrent and complex human genomic rearrangements.
Liu P, Carvalho CM, Hastings PJ, Lupski JR. Liu P, et al. Among authors: lupski jr. Curr Opin Genet Dev. 2012 Jun;22(3):211-20. doi: 10.1016/j.gde.2012.02.012. Epub 2012 Mar 20. Curr Opin Genet Dev. 2012. PMID: 22440479 Free PMC article. Review.
924 results