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 *

164 related articles for article (PubMed ID: 16131480)

  • 1. Congenital fibrosis of extraocular muscles type 1 with progression of ophthalmoplegia.
    Hanisch F; Bau V; Zierz S
    Eur J Med Res; 2005 Aug; 10(8):366-8. PubMed ID: 16131480
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.
    Demer JL; Clark RA; Engle EC
    Invest Ophthalmol Vis Sci; 2005 Feb; 46(2):530-9. PubMed ID: 15671279
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
    Yamada K; Andrews C; Chan WM; McKeown CA; Magli A; de Berardinis T; Loewenstein A; Lazar M; O'Keefe M; Letson R; London A; Ruttum M; Matsumoto N; Saito N; Morris L; Del Monte M; Johnson RH; Uyama E; Houtman WA; de Vries B; Carlow TJ; Hart BL; Krawiecki N; Shoffner J; Vogel MC; Katowitz J; Goldstein SM; Levin AV; Sener EC; Ozturk BT; Akarsu AN; Brodsky MC; Hanisch F; Cruse RP; Zubcov AA; Robb RM; Roggenkäemper P; Gottlob I; Kowal L; Battu R; Traboulsi EI; Franceschini P; Newlin A; Demer JL; Engle EC
    Nat Genet; 2003 Dec; 35(4):318-21. PubMed ID: 14595441
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.
    Yamada K; Hunter DG; Andrews C; Engle EC
    Arch Ophthalmol; 2005 Sep; 123(9):1254-9. PubMed ID: 16157808
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles.
    Shimizu S; Okinaga A; Maruo T
    Jpn J Ophthalmol; 2005; 49(6):443-447. PubMed ID: 16365788
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.
    Lu S; Zhao C; Zhao K; Li N; Larsson C
    Arch Ophthalmol; 2008 Mar; 126(3):388-94. PubMed ID: 18332320
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in KIF21A are responsible for CFEOM1 worldwide.
    Traboulsi EI; Engle EC
    Ophthalmic Genet; 2004 Dec; 25(4):237-9. PubMed ID: 15621875
    [No Abstract]   [Full Text] [Related]  

  • 8. Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.
    Tiab L; d'Allèves Manzi V; Borruat FX; Munier F; Schorderet D
    Ophthalmic Genet; 2004 Dec; 25(4):241-6. PubMed ID: 15621876
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Congenital fibrosis of the extraocular muscles.
    Heidary G; Engle EC; Hunter DG
    Semin Ophthalmol; 2008; 23(1):3-8. PubMed ID: 18214786
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian Peninsula.
    Khan AO; Khalil DS; Al-Tassan NA
    Ophthalmic Genet; 2008 Mar; 29(1):25-8. PubMed ID: 18363169
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.
    Traboulsi EI
    Trans Am Ophthalmol Soc; 2004; 102():373-89. PubMed ID: 15747768
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Unexpected clinical involvement of hereditary total leuconychia with congenital fibrosis of the extraocular muscles in three generations.
    Karadeniz N; Erkek E; Taner P
    Clin Exp Dermatol; 2009 Dec; 34(8):e570-2. PubMed ID: 19489868
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)].
    Hanisch F; Bau V; Zierz S
    Nervenarzt; 2005 Apr; 76(4):395-402. PubMed ID: 15221064
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.
    Khan AO; Shinwari J; Omar A; Al-Sharif L; Khalil DS; Alanazi M; Al-Amri A; Al Tassan N
    Mol Vis; 2011 Jan; 17():218-24. PubMed ID: 21264235
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.
    Luk HM; Lo IF; Lai CW; Ma LC; Tong TM; Chan DH; Lam ST
    Hong Kong Med J; 2013 Apr; 19(2):182-5. PubMed ID: 23535681
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
    Yamada K; Chan WM; Andrews C; Bosley TM; Sener EC; Zwaan JT; Mullaney PB; Oztürk BT; Akarsu AN; Sabol LJ; Demer JL; Sullivan TJ; Gottlob I; Roggenkäemper P; Mackey DA; De Uzcategui CE; Uzcategui N; Ben-Zeev B; Traboulsi EI; Magli A; de Berardinis T; Gagliardi V; Awasthi-Patney S; Vogel MC; Rizzo JF; Engle EC
    Invest Ophthalmol Vis Sci; 2004 Jul; 45(7):2218-23. PubMed ID: 15223798
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations.
    Ali M; Venkatesh C; Ragunath A; Kumar A
    Ophthalmic Genet; 2004 Dec; 25(4):247-55. PubMed ID: 15621877
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane.
    Kakinuma N; Kiyama R
    Biochem Biophys Res Commun; 2009 Sep; 386(4):639-44. PubMed ID: 19559006
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata.
    Flaherty MP; Balachandran C; Jamieson R; Engle EC
    Ophthalmic Genet; 2009 Jun; 30(2):91-5. PubMed ID: 19373680
    [TBL] [Abstract][Full Text] [Related]  

  • 20. KIF21A variant R954W in familial or sporadic cases of CFEOM1.
    Rudolph G; Nentwich M; Hellebrand H; Pollack K; Gordes R; Bau V; Kampik A; Meindl A
    Eur J Ophthalmol; 2009; 19(4):667-74. PubMed ID: 19551685
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.