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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: osorno g.
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: osorno g.
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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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: osorno g.
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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A 20-year experience with the Brent technique of auricular reconstruction: pearls and pitfalls.
Osorno G.
Osorno G.
Plast Reconstr Surg. 2007 Apr 15;119(5):1447-1463. doi: 10.1097/01.prs.0000258572.57161.d8.
Plast Reconstr Surg. 2007.
PMID: 17415239
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Autogenous rib cartilage reconstruction of congenital ear defects: report of 110 cases with Brent's technique.
Osorno G.
Osorno G.
Plast Reconstr Surg. 1999 Dec;104(7):1951-62; discussion 1963-4. doi: 10.1097/00006534-199912000-00001.
Plast Reconstr Surg. 1999.
PMID: 11149757
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