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Items: 1 to 20 of 116

1.

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
2.

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
3.

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
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 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
6.

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
7.

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
8.

A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.

Wang Y, Yin XJ, Han T, Peng W, Wu HL, Liu X, Feng ZC.

Mol Genet Genomics. 2014 Dec;289(6):1237-40. doi: 10.1007/s00438-014-0883-8. Epub 2014 Jul 4.

PMID:
24994558
9.

[Treacher Collins syndrome: case report and literature review].

Hao J, Liu Z, Kong W, Wang J.

Lin Chuang Er Bi Yan Hou Ke Za Zhi. 2006 Jul;20(13):582-4. Review. Chinese.

PMID:
16981466
10.

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
11.

[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
12.

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.

13.

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.

14.

[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
15.

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
16.

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
17.

Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene.

Su PH, Chen JY, Chen SJ, Yu JS.

J Formos Med Assoc. 2006 Jun;105(6):518-21.

18.

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
19.

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR.

Hum Mutat. 2000 Oct;16(4):315-22. Review.

PMID:
11013442
20.

Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease.

Shows KH, Ward C, Summers L, Li L, Ziegler GR, Hendrickx AG, Shiang R.

Mamm Genome. 2006 Feb;17(2):168-77. Epub 2006 Feb 7.

PMID:
16465596

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