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 *

70 related articles for article (PubMed ID: 8793128)

  • 1. Isolation of a deafness gene.
    Dixon MJ
    Br J Hosp Med; 1996 Jun 5-18; 55(11):672-3. PubMed ID: 8793128
    [No Abstract]   [Full Text] [Related]  

  • 2. Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome.
    Rosa F; Coutinho MB; Ferreira JP; Sousa CA
    Acta Otorrinolaringol Esp; 2016; 67(3):142-7. PubMed ID: 26025357
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
    Teber OA; Gillessen-Kaesbach G; Fischer S; Böhringer S; Albrecht B; Albert A; Arslan-Kirchner M; Haan E; Hagedorn-Greiwe M; Hammans C; Henn W; Hinkel GK; König R; Kunstmann E; Kunze J; Neumann LM; Prott EC; Rauch A; Rott HD; Seidel H; Spranger S; Sprengel M; Zoll B; Lohmann DR; Wieczorek D
    Eur J Hum Genet; 2004 Nov; 12(11):879-90. PubMed ID: 15340364
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Patient with diabetes and impaired hearing].
    García E; Sánchez R; Partida M; de Mingo ML; Calatayud M; Martínez G; Hawkins F
    Endocrinol Nutr; 2012 Mar; 59(3):220-2. PubMed ID: 22153565
    [No Abstract]   [Full Text] [Related]  

  • 6. Acrofacial dysostosis of Nager and ocular abnormalities.
    Pavone L; Mollica F; Pero G; Tigano G; Giancarlo H; Mattucci K; Setzen M
    Ophthalmic Paediatr Genet; 1986 Aug; 7(2):115-9. PubMed ID: 3097597
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hereditary hearing loss associated with musculoskeletal malformations.
    Gorlin RJ
    Birth Defects Orig Artic Ser; 1980; 16(7):73-87. PubMed ID: 6260264
    [No Abstract]   [Full Text] [Related]  

  • 8. TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders.
    Splendore A; Passos-Bueno MR; Jabs EW; Van Maldergem L; Wulfsberg EA
    Am J Med Genet; 2002 Aug; 111(3):324-7. PubMed ID: 12210332
    [No Abstract]   [Full Text] [Related]  

  • 9. Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration.
    Goverdhan SV; Temple IK; Self J; Lotery AJ; Dixon MJ; Evans AR
    Br J Ophthalmol; 2005 Aug; 89(8):1063-4. PubMed ID: 16024866
    [No Abstract]   [Full Text] [Related]  

  • 10. The Nagar syndrome (acrofacial dysostosis): evidence for autosomal dominant inheritance.
    Lowry RB
    Birth Defects Orig Artic Ser; 1977; 13(3C):195-202. PubMed ID: 890111
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.
    Splendore A; Jabs EW; Passos-Bueno MR
    J Med Genet; 2002 Jul; 39(7):493-5. PubMed ID: 12114482
    [No Abstract]   [Full Text] [Related]  

  • 12. Fully implantable hearing device as a new treatment of conductive hearing loss in Franceschetti syndrome.
    Tringali S; Pergola N; Ferber-Viart C; Truy E; Berger P; Dubreuil C
    Int J Pediatr Otorhinolaryngol; 2008 Apr; 72(4):513-7. PubMed ID: 18261808
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome?
    Delb W; Lipfert S; Henn W
    Clin Dysmorphol; 2001 Apr; 10(2):105-9. PubMed ID: 11310989
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hearing loss in the Treacher-Collins syndrome.
    Marres HA
    Adv Otorhinolaryngol; 2002; 61():209-15. PubMed ID: 12408086
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
    Splendore A; Jabs EW; Félix TM; Passos-Bueno MR
    Eur J Hum Genet; 2003 Sep; 11(9):718-22. PubMed ID: 12939661
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Treacher Collins syndrome.
    Marsh KL; Dixon MJ
    Adv Otorhinolaryngol; 2000; 56():53-9. PubMed ID: 10868214
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. Otorhinolaryngologic problems in patients with craniofacial anomalies.
    Crysdale WS
    Otolaryngol Clin North Am; 1981 Feb; 14(1):145-55. PubMed ID: 7254835
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 4.