BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 33251926)

  • 1. KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.
    Al-Haddad C; Boustany RM; Rachid E; Ismail K; Barry B; Chan WM; Engle E
    Ophthalmic Genet; 2021 Apr; 42(2):195-199. PubMed ID: 33251926
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.
    Chen J; Ye Q; Deng D; Yan J; Lin H; Shen T; Lin Y
    Mol Med Rep; 2016 Oct; 14(4):3145-51. PubMed ID: 27513105
    [TBL] [Abstract][Full Text] [Related]  

  • 4. KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).
    Yang X; Yamada K; Katz B; Guan H; Wang L; Andrews C; Zhao G; Engle EC; Chen H; Tong Z; Kong J; Hu C; Kong Q; Fan G; Wang Z; Ning M; Zhang S; Xu J; Zhang K
    Mol Vis; 2010 Oct; 16():2062-70. PubMed ID: 21042561
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families.
    Chen M; Huang R; Zhang Y; Zhu DJ; Shu Q; Xun P; Zhang J; Gu P; Li L
    Graefes Arch Clin Exp Ophthalmol; 2023 Mar; 261(3):879-889. PubMed ID: 36138147
    [TBL] [Abstract][Full Text] [Related]  

  • 6. KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.
    Wang P; Li S; Xiao X; Guo X; Zhang Q
    Int J Mol Med; 2011 Dec; 28(6):973-5. PubMed ID: 21805025
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
    Chan WM; Andrews C; Dragan L; Fredrick D; Armstrong L; Lyons C; Geraghty MT; Hunter DG; Yazdani A; Traboulsi EI; Pott JW; Gutowski NJ; Ellard S; Young E; Hanisch F; Koc F; Schnall B; Engle EC
    BMC Genet; 2007 May; 8():26. PubMed ID: 17511870
    [TBL] [Abstract][Full Text] [Related]  

  • 10. KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3.
    Lin LK; Chien YH; Wu JY; Wang AH; Chiang SC; Hwu WL
    Mol Vis; 2005 Apr; 11():245-8. PubMed ID: 15827546
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1.
    Chen H; Liu T; Zeng Z; Wang Y; Lin Y; Cheng L; Pan Q; Gu F; Song Z; Zhang Z
    Medicine (Baltimore); 2017 Sep; 96(38):e8068. PubMed ID: 28930843
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.
    Liu G; Chen X; Sun X; Liu H; Zhao K; Chang Q; Pan X; Wang X; Yuan S; Liu Q; Zhao C
    Mol Vis; 2014; 20():15-23. PubMed ID: 24426772
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
    Desai J; Velo MP; Yamada K; Overman LM; Engle EC
    Gene Expr Patterns; 2012; 12(5-6):180-8. PubMed ID: 22465342
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.
    Engle EC; McIntosh N; Yamada K; Lee BA; Johnson R; O'Keefe M; Letson R; London A; Ballard E; Ruttum M; Matsumoto N; Saito N; Collins ML; Morris L; Del Monte M; Magli A; de Berardinis T
    BMC Genet; 2002; 3():3. PubMed ID: 11882252
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.
    Heidary G; Mackinnon S; Elliott A; Barry BJ; Engle EC; Hunter DG
    J AAPOS; 2019 Oct; 23(5):253.e1-253.e6. PubMed ID: 31541710
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 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 8.