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Results: 1 to 20 of 324

1.

Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene.

Li C, Mernagh J, Bourgeois J.

Clin Dysmorphol. 2009 Jan;18(1):63-6. doi: 10.1097/MCD.0b013e328318c4fb. No abstract available.

PMID:
19050407
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
16801042
[PubMed - indexed for MEDLINE]
4.

Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome.

Su PH, Yu JS, Chen JY, Chen SJ, Li SY, Chen HN.

Clin Dysmorphol. 2007 Oct;16(4):261-7.

PMID:
17786119
[PubMed - indexed for MEDLINE]
5.

Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1.

Fujioka H, Ariga T, Horiuchi K, Ishikiriyama S, Oyama K, Otsu M, Kawashima K, Yamamoto Y, Sugihara T, Sakiyama Y.

Pediatr Int. 2008 Dec;50(6):806-9. doi: 10.1111/j.1442-200X.2008.02650.x.

PMID:
19067896
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
Free Article
7.

[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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
9096354
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
Free Article
12.

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
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
22317976
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

Treacher Collins syndrome: correlation between clinical and genetic linkage studies.

Dixon MJ, Marres HA, Edwards SJ, Dixon J, Cremers CW.

Clin Dysmorphol. 1994 Apr;3(2):96-103.

PMID:
8055143
[PubMed - indexed for MEDLINE]

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