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Items: 1 to 20 of 162

1.

Facial dysostoses: Etiology, pathogenesis and management.

Trainor PA, Andrews BT.

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):283-94. doi: 10.1002/ajmg.c.31375. Epub 2013 Oct 4. Review.

2.

Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.

Terrazas K, Dixon J, Trainor PA, Dixon MJ.

Wiley Interdiscip Rev Dev Biol. 2017 May;6(3). doi: 10.1002/wdev.263. Epub 2017 Feb 10. Review.

PMID:
28186364
3.

Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?

Zhang Y, Dai Y, Liu Y, Ren J.

Clin Genet. 2010 Dec;78(6):570-4. doi: 10.1111/j.1399-0004.2010.01427.x.

PMID:
20412112
4.

Acrofacial dysostosis of unknown type: nosology of the acrofacial dysostoses.

Preis S, Raymaekers-Buntinx I, Majewski F.

Am J Med Genet. 1995 Mar 27;56(2):155-60. Review.

PMID:
7625437
5.

Human facial dysostoses.

Wieczorek D.

Clin Genet. 2013 Jun;83(6):499-510. doi: 10.1111/cge.12123. Epub 2013 Apr 8. Review.

PMID:
23565775
6.

Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome.

Green B, Nikkhah D, Cobb AR, Dunaway DJ.

J Plast Reconstr Aesthet Surg. 2013 Aug;66(8):e234-5. doi: 10.1016/j.bjps.2013.04.029. Epub 2013 May 9. No abstract available.

PMID:
23664577
7.

A nager acrofacial dysostosis syndrome patient with severe respiratory distress syndrome (RDS).

Kondoh T, Ito M, Ariyama A, Shitijoh T, Matsumoto T, Tsuji Y.

Jpn J Hum Genet. 1997 Sep;42(3):445-9.

PMID:
12503193
8.

Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?

Nezarati MM, Aftimos S.

Clin Dysmorphol. 2007 Jan;16(1):9-13.

PMID:
17159508
9.

Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention.

Trainor PA.

Am J Med Genet A. 2010 Dec;152A(12):2984-94. doi: 10.1002/ajmg.a.33454. Epub 2010 Aug 23. Review.

10.

Familial postaxial acrofacial dysostosis syndrome.

Giannotti A, Digilio MC, Virgili Q, Obregon MG, Guadagni AM, Ventura T, Dallapiccola B.

J Med Genet. 1992 Oct;29(10):752. No abstract available.

11.

Nager acrofacial dysostosis: early intervention and long-term planning.

Meyerson MD, Jensen KM, Meyers JM, Hall BD.

Cleft Palate J. 1977 Jan;14(1):35-40.

PMID:
401476
12.

Postaxial acrofacial dysostosis (Miller) syndrome: a new case.

Vigneron J, Stricker M, Vert P, Rousselot JM, Levy M.

J Med Genet. 1991 Sep;28(9):636-8. Review.

13.

Miller syndrome with novel dihydroorotate dehydrogenase gene mutations.

Kinoshita F, Kondoh T, Komori K, Matsui T, Harada N, Yanai A, Fukuda M, Morifuji K, Matsumoto T.

Pediatr Int. 2011 Aug;53(4):587-91. doi: 10.1111/j.1442-200X.2010.03303.x. No abstract available.

PMID:
21851494
14.

Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction.

Fang J, Uchiumi T, Yagi M, Matsumoto S, Amamoto R, Takazaki S, Yamaza H, Nonaka K, Kang D.

Biosci Rep. 2013 Feb 5;33(2):e00021. doi: 10.1042/BSR20120097.

15.

Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-Teebi.

Ruiter M, van Dijken PJ, de Vries BB.

Am J Med Genet A. 2005 Jun 15;135(3):344; author reply 345. No abstract available.

PMID:
15822074
16.
17.

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, König R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM.

Am J Hum Genet. 2015 May 7;96(5):765-74. doi: 10.1016/j.ajhg.2015.03.011. Epub 2015 Apr 23.

18.

Common craniofacial anomalies: the facial dysostoses.

Hunt JA, Hobar PC.

Plast Reconstr Surg. 2002 Dec;110(7):1714-25; quiz 1726; discussion 1727-8. Review.

PMID:
12447054
19.

Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.

Sermer D, Quercia N, Chong K, Chitayat D.

Am J Med Genet A. 2007 Dec 15;143A(24):3286-9.

PMID:
18000904
20.

Acrofacial dysostosis type Rodríguez.

Dimitrov B, Balikova I, Jekova N, Vakrilova L, Fryns JP, Simeonov E.

Am J Med Genet A. 2005 May 15;135(1):81-5. Review.

PMID:
15793832

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