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Page 1
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE. Greenway SC, et al. Among authors: quintanilla dieck mde l. Nat Genet. 2009 Aug;41(8):931-5. doi: 10.1038/ng.415. Epub 2009 Jul 13. Nat Genet. 2009. PMID: 19597493 Free PMC article.
Pathology quiz case. Dermatofibrosarcoma protuberans (DFSP) of the scalp.
Quintanilla-Dieck Mde L, Farrag TY, Micchelli S, Burkart A, Aygun N, Tufano RP. Quintanilla-Dieck Mde L, et al. Arch Otolaryngol Head Neck Surg. 2008 Aug;134(8):897-8. doi: 10.1001/archotol.134.8.897. Arch Otolaryngol Head Neck Surg. 2008. PMID: 18711068 No abstract available.
A classic twin study of external ear malformations, including microtia.
Artunduaga MA, Quintanilla-Dieck Mde L, Greenway S, Betensky R, Nicolau Y, Hamdan U, Jarrin P, Osorno G, Brent B, Eavey R, Seidman C, Seidman JG. Artunduaga MA, et al. Among authors: quintanilla dieck mde l. N Engl J Med. 2009 Sep 17;361(12):1216-8. doi: 10.1056/NEJMc0902556. N Engl J Med. 2009. PMID: 19759387 Free PMC article. No abstract available.