These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 22712005)

  • 1. First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome.
    Beygo J; Buiting K; Seland S; Lüdecke HJ; Hehr U; Lich C; Prager B; Lohmann DR; Wieczorek D
    Mol Syndromol; 2012 Jan; 2(2):53-59. PubMed ID: 22712005
    [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. 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]  

  • 4. 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]  

  • 5. A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.
    Ulhaq ZS; Nurputra DK; Soraya GV; Kurniawati S; Istifiani LA; Pamungkas SA; Tse WKF
    Clin Genet; 2023 Feb; 103(2):146-155. PubMed ID: 36203321
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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. PubMed ID: 25790162
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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. PubMed ID: 24690222
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities.
    Dixon J; Jones NC; Sandell LL; Jayasinghe SM; Crane J; Rey JP; Dixon MJ; Trainor PA
    Proc Natl Acad Sci U S A; 2006 Sep; 103(36):13403-8. PubMed ID: 16938878
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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. PubMed ID: 12080178
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.
    Zeng H; Xie M; Li J; Xie H; Lu X
    Int J Pediatr Otorhinolaryngol; 2021 Feb; 141():110561. PubMed ID: 33341718
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.
    Liu J; Lin P; Pang J; Jia Z; Peng Y; Xi H; Wu L; Li Z; Wang H
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1313. PubMed ID: 32543076
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.