209 related articles for article (PubMed ID: 27526242)
1. Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome.
Hao S; Jin L; Wang H; Li C; Zheng F; Ma D; Zhang T
J Craniofac Surg; 2016 Sep; 27(6):e583-6. PubMed ID: 27526242
[TBL] [Abstract][Full Text] [Related]
2. Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.
Chen Y; Guo L; Li CL; Shan J; Xu HS; Li JY; Sun S; Hao SJ; Jin L; Chai G; Zhang TY
Mol Genet Genomics; 2018 Apr; 293(2):569-577. PubMed ID: 29230583
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 17786119
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 16801042
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 11013442
[TBL] [Abstract][Full Text] [Related]
6. [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 Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2012 May; 26(10):459-62. PubMed ID: 22870720
[TBL] [Abstract][Full Text] [Related]
7. Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia.
Hao S; Jin L; Li C; Wang H; Zheng F; Ma D; Zhang T
Int J Pediatr Otorhinolaryngol; 2017 Feb; 93():78-82. PubMed ID: 28109504
[TBL] [Abstract][Full Text] [Related]
8. Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.
Zhuang DY; Sun SN; Hu ZJ; Xie M; Zhang YX; Yan LL; Pan JW; Li HB
Mol Genet Genomic Med; 2024 Mar; 12(3):e2405. PubMed ID: 38444283
[TBL] [Abstract][Full Text] [Related]
9. 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; 134(4):363-7. PubMed ID: 15759264
[TBL] [Abstract][Full Text] [Related]
10. 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; 12():125. PubMed ID: 21951868
[TBL] [Abstract][Full Text] [Related]
11. Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
Kantaputra PN; Tripuwabhrut K; Intachai W; Carlson BM; Quarto N; Ngamphiw C; Tongsima S; Sonsuwan N
Clin Otolaryngol; 2020 Sep; 45(5):695-702. PubMed ID: 32351010
[TBL] [Abstract][Full Text] [Related]
12. 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; 10():136. PubMed ID: 20003452
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 24603435
[TBL] [Abstract][Full Text] [Related]
14. 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; 94(7):3110-5. PubMed ID: 9096354
[TBL] [Abstract][Full Text] [Related]
15. A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.
Masotti C; Armelin-Correa LM; Splendore A; Lin CJ; Barbosa A; Sogayar MC; Passos-Bueno MR
Gene; 2005 Oct; 359():44-52. PubMed ID: 16102917
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 22317976
[TBL] [Abstract][Full Text] [Related]
17. Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.
So RB; Gonzales B; Henning D; Dixon J; Dixon MJ; Valdez BC
Gene; 2004 Mar; 328():49-57. PubMed ID: 15019983
[TBL] [Abstract][Full Text] [Related]
18. Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
Zhang C; An L; Xue H; Hao S; Yan Y; Zhang Q; Jin X; Li Q; Zhou B; Feng X; Ma P; Wang X; Chen X; Chen C; Cao Z; Ma X
J Clin Lab Anal; 2021 Jan; 35(1):e23567. PubMed ID: 32909271
[TBL] [Abstract][Full Text] [Related]
19. Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome.
Li X; Su Y; Huang S; Gao B; Zhang D; Wang X; Gao Q; Pang H; Zhao Y; Yuan Y; Dai P
Acta Otolaryngol; 2019 Jul; 139(7):567-575. PubMed ID: 31107123
[No Abstract] [Full Text] [Related]
20. 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; 123A(2):169-71. PubMed ID: 14598341
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
