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An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations.
Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2203928119. doi: 10.1073/pnas.2203928119. Epub 2022 May 18.
Proc Natl Acad Sci U S A. 2022.
PMID: 35584116
Free PMC article.
HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss.
Brown KK, Viana LM, Helwig CC, Artunduaga MA, Quintanilla-Dieck L, Jarrin P, Osorno G, McDonough B, DePalma SR, Eavey RD, Seidman JG, Seidman CE.
Brown KK, et al. Among authors: artunduaga ma.
Hum Mutat. 2013 Oct;34(10):1347-51. doi: 10.1002/humu.22367. Epub 2013 Jul 11.
Hum Mutat. 2013.
PMID: 23775976
Free PMC article.
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Damaging variants in FOXI3 cause microtia and craniofacial microsomia.
Quiat D, Timberlake AT, Curran JJ, Cunningham ML, McDonough B, Artunduaga MA, DePalma SR, Duenas-Roque MM, Gorham JM, Gustafson JA, Hamdan U, Hing AV, Hurtado-Villa P, Nicolau Y, Osorno G, Pachajoa H, Porras-Hurtado GL, Quintanilla-Dieck L, Serrano L, Tumblin M, Zarante I, Luquetti DV, Eavey RD, Heike CL, Seidman JG, Seidman CE.
Quiat D, et al. Among authors: artunduaga ma.
Genet Med. 2023 Jan;25(1):143-150. doi: 10.1016/j.gim.2022.09.005. Epub 2022 Oct 19.
Genet Med. 2023.
PMID: 36260083
Free PMC article.
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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: artunduaga ma.
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.
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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.
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.
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Intentional exposure to loud music: the second MTV.com survey reveals an opportunity to educate.
Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD.
Quintanilla-Dieck Mde L, et al. Among authors: artunduaga ma.
J Pediatr. 2009 Oct;155(4):550-5. doi: 10.1016/j.jpeds.2009.04.053.
J Pediatr. 2009.
PMID: 19595372
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Status of trauma quality improvement programs in the Andean region: What foundation do we have to build on.
LaGrone LN, Romaní Pozo DA, Figueroa JF, Artunduaga MA, Huaman Egoavil E, Rodriguez Castro MJA, Foianini JE, Rubiano AM, Rodas EB, Mock CN.
LaGrone LN, et al. Among authors: artunduaga ma.
Injury. 2017 Sep;48(9):1985-1993. doi: 10.1016/j.injury.2017.03.003. Epub 2017 Apr 7.
Injury. 2017.
PMID: 28476355
Free PMC article.
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