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Items: 1 to 20 of 123

1.

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.

Vincent M, Collet C, Verloes A, Lambert L, Herlin C, Blanchet C, Sanchez E, Drunat S, Vigneron J, Laplanche JL, Puechberty J, Sarda P, Geneviève D.

Eur J Hum Genet. 2014 Jan;22(1):52-6. doi: 10.1038/ejhg.2013.98. Epub 2013 May 22.

2.

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
3.

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.

4.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, König R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, Schweiger B, Steehouwer M, Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Lüdecke HJ, Wieczorek D.

Orphanet J Rare Dis. 2013 Jul 24;8:110. doi: 10.1186/1750-1172-8-110.

5.

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
6.

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
7.

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
8.

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
9.

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.

Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, Lovett M, Jabs EW.

Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3110-5.

10.

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
11.

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.

12.

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
13.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center., van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium., Bulman DE, Boycott KM, Lines MA.

Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Epub 2015 Nov 19. Review.

PMID:
26507355
14.

Treacher Collins syndrome: unmasking the role of Tcof1/treacle.

Sakai D, Trainor PA.

Int J Biochem Cell Biol. 2009 Jun;41(6):1229-32. doi: 10.1016/j.biocel.2008.10.026. Epub 2008 Nov 5. Review.

15.

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
16.

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.

Bowman M, Oldridge M, Archer C, O'Rourke A, McParland J, Brekelmans R, Seller A, Lester T.

Eur J Hum Genet. 2012 Jul;20(7):769-77. doi: 10.1038/ejhg.2012.2. Epub 2012 Feb 8.

17.

[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
18.

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
19.

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.

20.

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

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