BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 24778568)

  • 1. A case of treacher collins syndrome.
    Ulusal S; Gürkan H; Vatansever U; Kürkçü K; Tozkir H; Acunaş B
    Balkan J Med Genet; 2013 Dec; 16(2):77-80. PubMed ID: 24778568
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome.
    Yan Z; Lu Y; Wang Y; Zhang X; Duan H; Cheng J; Yuan H; Han D
    Exp Ther Med; 2018 Sep; 16(3):2645-2650. PubMed ID: 30186496
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. De novo TCOF1 mutation in Treacher Collins syndrome.
    Liu J; Dong J; Li P; Duan W
    Int J Pediatr Otorhinolaryngol; 2021 Aug; 147():110765. PubMed ID: 34058530
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome.
    Marszałek-Kruk BA; Wójcicki P; Smigiel R; Trzeciak WH
    J Appl Genet; 2012 Aug; 53(3):279-82. PubMed ID: 22415350
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 126A(1):84-8. PubMed ID: 15039977
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical spectrum of Treacher Collins syndrome.
    Mehrotra D; Hasan M; Pandey R; Kumar S
    J Oral Biol Craniofac Res; 2011; 1(1):36-40. PubMed ID: 25756016
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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. PubMed ID: 23838542
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect.
    Fan X; Wang Y; Fan Y; Du H; Luo N; Zhang S; Chen X
    Orphanet J Rare Dis; 2019 Jul; 14(1):178. PubMed ID: 31307516
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
    Ghesh L; Vincent M; Delemazure AS; Boyer J; Corre P; Perez F; Geneviève D; Laplanche JL; Collet C; Isidor B
    Am J Med Genet A; 2019 Jul; 179(7):1390-1394. PubMed ID: 30957429
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 23695276
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Gene testing in Treacher Collins syndrome].
    Zsigmond A; Till Á; Pintér AL; Maász A; Szabó A; Hadzsiev K
    Orv Hetil; 2020 Dec; 161(52):2201-2205. PubMed ID: 33361506
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [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]  

  • 20. Treacher Collins Syndrome: Genetics, Clinical Features and Management.
    Marszałek-Kruk BA; Wójcicki P; Dowgierd K; Śmigiel R
    Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573374
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.