240 related articles for article (PubMed ID: 14595441)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
