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Items: 1 to 20 of 228

1.

Treacher Collins syndrome: a case review.

Jensen-Steed G.

Adv Neonatal Care. 2011 Dec;11(6):389-94; quiz 395-6. doi: 10.1097/ANC.0b013e3182338070.

PMID:
22123469
2.

Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.

Dixon J, Ellis I, Bottani A, Temple K, Dixon MJ.

Am J Med Genet A. 2004 Jun 15;127A(3):244-8.

PMID:
15150774
3.

[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial].

Chaabouni M, Fersi M, Belghith N, Maazoul F, M'rad R, Ben Jemaa L, Gandoura N, Chaabouni H.

Tunis Med. 2007 Oct;85(10):885-90. French.

PMID:
18236814
4.

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

Wieczorek D, Gener B, González MJ, Seland S, Fischer S, Hehr U, Kuechler A, Hoefsloot LH, de Leeuw N, Gillessen-Kaesbach G, Lohmann DR.

Am J Med Genet A. 2009 May;149A(5):837-43. doi: 10.1002/ajmg.a.32747.

PMID:
19334086
5.

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
6.

Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene.

Gladwin AJ, Dixon J, Loftus SK, Edwards S, Wasmuth JJ, Hennekam RC, Dixon MJ.

Hum Mol Genet. 1996 Oct;5(10):1533-8.

PMID:
8894686
7.

Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report.

McFarren A, Jayabose S, Fevzi Ozkaynak M, Tugal O, Sandoval C.

J Pediatr Hematol Oncol. 2007 May;29(5):338-40.

PMID:
17483715
8.

Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.

Konstantinidou AE, Tasoulas J, Kallipolitis G, Gasparatos S, Velissariou V, Paraskevakou H.

Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):774-80. doi: 10.1002/bdra.23202. Epub 2013 Nov 29.

PMID:
24288143
9.

Mandibulo-facial dysostosis. (Treacher-Collins syndrome).

Fazen LE, Elmore J, Nadler HL.

Am J Dis Child. 1967 Apr;113(4):405-10. No abstract available.

PMID:
6024864
10.

Bone-anchored hearing aid (Baha) in patients with Treacher Collins syndrome: tips and pitfalls.

Marsella P, Scorpecci A, Pacifico C, Tieri L.

Int J Pediatr Otorhinolaryngol. 2011 Oct;75(10):1308-12. doi: 10.1016/j.ijporl.2011.07.020. Epub 2011 Aug 11.

PMID:
21839526
11.

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E, Bolender C, Eliot MM, Nürnberg G, Passos-Bueno MR, Wieczorek D, van Maldergem L, Doray B.

Genet Med. 2014 Sep;16(9):720-4. doi: 10.1038/gim.2014.12. Epub 2014 Mar 6.

PMID:
24603435
12.

Treacher Collins syndrome: otologic and auditory management.

Jahrsdoerfer RA, Jacobson JT.

J Am Acad Audiol. 1995 Jan;6(1):93-102.

PMID:
7696682
13.

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.

Shoo BA, McPherson E, Jabs EW.

Am J Med Genet A. 2004 Apr 1;126A(1):84-8.

PMID:
15039977
14.

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.

Conte C, D'Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G.

BMC Med Genet. 2011 Sep 27;12:125. doi: 10.1186/1471-2350-12-125.

15.

Orofacial features of Treacher Collins syndrome.

Martelli-Junior H, Coletta RD, Miranda RT, Barros LM, Swerts MS, Bonan PR.

Med Oral Patol Oral Cir Bucal. 2009 Jul 1;14(7):E344-8.

16.

A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.

Zhang X, Fan Y, Zhang Y, Xue H, Chen X.

Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1410-5. doi: 10.1016/j.ijporl.2013.05.013. Epub 2013 Jul 6.

PMID:
23838542
17.

Multidisciplinary treatment approach in Treacher Collins syndrome.

Hylton JB, Leon-Salazar V, Anderson GC, De Felippe NL.

J Dent Child (Chic). 2012 Jan-Apr;79(1):15-21. Review.

PMID:
22449504
18.

Hearing loss in the Treacher-Collins syndrome.

Marres HA.

Adv Otorhinolaryngol. 2002;61:209-15.

PMID:
12408086
19.

Prosthetic management of a patient with Treacher Collins syndrome.

Madhan R, Nayar S.

Indian J Dent Res. 2006 Apr-Jun;17(2):78-81.

20.

[The research progress of Treacher Collins syndrome].

Wang P, Fan X, Fan Y.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016 Feb;30(4):333-8. Review. Chinese.

PMID:
27373049

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