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Items: 1 to 20 of 159

1.

Syndromes of the first and second pharyngeal arches: A review.

Passos-Bueno MR, Ornelas CC, Fanganiello RD.

Am J Med Genet A. 2009 Aug;149A(8):1853-9. doi: 10.1002/ajmg.a.32950. Review.

PMID:
19610085
2.

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.

Masotti C, Oliveira KG, Poerner F, Splendore A, Souza J, Freitas Rda S, Zechi-Ceide R, Guion-Almeida ML, Passos-Bueno MR.

Eur J Hum Genet. 2008 Feb;16(2):145-52. Epub 2007 Nov 14.

3.
4.

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M.

Eur J Med Genet. 2015 Sep;58(9):455-65. doi: 10.1016/j.ejmg.2015.07.003. Epub 2015 Jul 20.

PMID:
26206081
5.

The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.

Valdez BC, Henning D, So RB, Dixon J, Dixon MJ.

Proc Natl Acad Sci U S A. 2004 Jul 20;101(29):10709-14. Epub 2004 Jul 12.

6.

Clinical features, treatment and genetic background of Treacher Collins syndrome.

Marszałek B, Wójcicki P, Kobus K, Trzeciak WH.

J Appl Genet. 2002;43(2):223-33. Review.

PMID:
12080178
7.
8.
9.

Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis.

Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, Sugihara T, Sakiyama Y.

Am J Med Genet A. 2005 May 1;134(4):363-7.

PMID:
15759264
10.

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.

Beleza-Meireles A, Clayton-Smith J, Saraiva JM, Tassabehji M.

J Med Genet. 2014 Oct;51(10):635-45. doi: 10.1136/jmedgenet-2014-102476. Epub 2014 Aug 12. Review.

PMID:
25118188
11.

Genome-wide scanning reveals complex etiology of oculo-auriculo-vertebral spectrum.

Huang XS, Li X, Tan C, Xiao L, Jiang HO, Zhang SF, Wang DM, Zhang JX.

Tohoku J Exp Med. 2010 Dec;222(4):311-8.

12.

Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.

Marsh KL, Dixon J, Dixon MJ.

Hum Mol Genet. 1998 Oct;7(11):1795-800.

PMID:
9736782
13.
14.

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

Masotti C, Ornelas CC, Splendore-Gordonos A, Moura R, Félix TM, Alonso N, Camargo AA, Passos-Bueno MR.

BMC Med Genet. 2009 Dec 14;10:136. doi: 10.1186/1471-2350-10-136.

15.

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

Dixon J, Brakebusch C, Fässler R, Dixon MJ.

Hum Mol Genet. 2000 Jun 12;9(10):1473-80.

PMID:
10888597
16.

A family with autosomal dominant oculo-auriculo-vertebral spectrum.

Tasse C, Majewski F, Böhringer S, Fischer S, Lüdecke HJ, Gillessen-Kaesbach G, Wieczorek D.

Clin Dysmorphol. 2007 Jan;16(1):1-7. Review.

PMID:
17159507
17.

Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City.

Llano-Rivas I, González-del Angel A, del Castillo V, Reyes R, Carnevale A.

Arch Med Res. 1999 Mar-Apr;30(2):120-4.

PMID:
10372445
18.

[The etiology research progress of oculo-auriculo-vertebral spectrum].

Wang P, Fan Y, Chen X.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2015 Dec;29(24):2184-8. Review. Chinese.

PMID:
27093828
19.

Characterizing the oculoauriculofrontonasal syndrome.

Gabbett MT, Robertson SP, Broadbent R, Aftimos S, Sachdev R, Nezarati MM.

Clin Dysmorphol. 2008 Apr;17(2):79-85. doi: 10.1097/MCD.0b013e3282f449c8.

PMID:
18388775

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