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Items: 1 to 20 of 132

1.

Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations.

Cesaretti C, Gentilin B, Bianchi V, Melloni G, Bonaguro M, Rossi C, Meazzini C, Brusati R, Lalatta F.

Clin Dysmorphol. 2011 Oct;20(4):229-31. doi: 10.1097/MCD.0b013e3283491725. No abstract available.

PMID:
21772136
2.

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
3.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P, Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A, Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S, Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo H, Szakszon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche JL, Collet C.

Genet Med. 2016 Jan;18(1):49-56. doi: 10.1038/gim.2015.29. Epub 2015 Mar 19. Erratum in: Genet Med. 2015 Aug;17(8):686. Szaskon, Kateline [corrected to Szakszon, Kateline].

PMID:
25790162
4.

Treacher Collins Syndrome: the genetics of a craniofacial disease.

Kadakia S, Helman SN, Badhey AK, Saman M, Ducic Y.

Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):893-8. doi: 10.1016/j.ijporl.2014.03.006. Epub 2014 Mar 13. Review.

PMID:
24690222
5.

[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
6.

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
7.

[Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene].

Li H, Zhang X, Li Z, Chen J, Lu Y, Jia J, Yuan H, Han D.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2012 May;26(10):459-62. Chinese.

PMID:
22870720
8.

Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.

Schlump JU, Stein A, Hehr U, Karen T, Möller-Hartmann C, Elcioglu NH, Bogdanova N, Woike HF, Lohmann DR, Felderhoff-Mueser U, Linz A, Wieczorek D.

Eur J Pediatr. 2012 Nov;171(11):1611-8. doi: 10.1007/s00431-012-1776-7. Epub 2012 Jun 23. Review.

PMID:
22729243
9.

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
10.
11.

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
12.

Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1.

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

Am J Med Genet A. 2004 Jul 15;128A(2):173-5.

PMID:
15214011
13.

A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon.

Macaya D, Katsanis SH, Hefferon TW, Audlin S, Mendelsohn NJ, Roggenbuck J, Cutting GR.

Am J Med Genet A. 2009 Aug;149A(8):1624-7. doi: 10.1002/ajmg.a.32834.

PMID:
19572402
14.

The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.

Noack Watt KE, Achilleos A, Neben CL, Merrill AE, Trainor PA.

PLoS Genet. 2016 Jul 22;12(7):e1006187. doi: 10.1371/journal.pgen.1006187. eCollection 2016 Jul.

15.

The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved.

Caluseriu O, Lowry BR, McLeod R, Lamont R, Parboosingh JS, Bernier FP, Innes AM.

Am J Med Genet A. 2013 Nov;161A(11):2855-9. doi: 10.1002/ajmg.a.36172. Epub 2013 Sep 24.

PMID:
24108658
16.

Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome.

Marszalek B, Wisniewski SA, Wojcicki P, Kobus K, Trzeciak WH.

Am J Med Genet A. 2003 Dec 1;123A(2):169-71.

PMID:
14598341
17.

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
18.

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.

19.

[Analysis of TCOF1 gene of eight Japanese patients with Treacher Collins syndrome].

Horiuchi K.

Hokkaido Igaku Zasshi. 2003 Sep;78(5):419-28. Japanese. No abstract available.

PMID:
14531285
20.

Treacher Collins syndrome.

Marsh KL, Dixon MJ.

Adv Otorhinolaryngol. 2000;56:53-9. Review. No abstract available.

PMID:
10868214

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