Citations for
1FEOM1, KANK1, KIF21A, KIF21B
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 386(4):639-44. Epub 2009 Jun 24.PMID: 19559006 2009
2FEOM1, KIF21A
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 126(3):388-94.PMID: 18332320 2008
3FEOM1, KIF21A
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 8:26.PMID: 17511870 2007
4KIF21A, FEOM1
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 11:245-8. 2005
5KIF21A, FEOM1
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 123(9):1254-9. Review. 2005
6KIF21A, FEOM1
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.
Tiab L, Manzi V, Borruat FX, Munier F, Schorderet D.
Ophthalmic Genet 25(4):241-6. 2004
7KIF21A, FEOM1
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 25(4):247-55. 2004
8FEOM1, FEOM3, KIF21A
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, Ozturk BT, Akarsu AN, Sabol LJ, Demer JL, Sullivan TJ, Gottlob I, Roggenkaemper 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 3rd, Engle EC.
Invest Ophthalmol Vis Sci 45(7):2218-23. 2004
9KIF21A, FEOM1
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, Roggenkaemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC.
Nat Genet 35(4):318-21. Epub 2003 Nov 02. 2003
10KIF21A, FEOM1
A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region.
Uyama E, Yamada K, Kawano H, Chan WM, Andrews C, Yoshioka M, Uchino M, Engle EC.
Neuromuscul Disord 13(6):472-8. 2003
11FEOM1
A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12.
Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC.
Arch Ophthalmol 118(8):1090-7. 2000
12FEOM3, FEOM1
CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.
Doherty EJ, et al.
Invest Ophthalmol Vis Sci 40(8):1687-94 1999
13FEOM1, FEOM2
Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).
Black GCM, et al.
J Med Genet 35 : 985-988. 1998
14FEOM1
Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia) : genetic homogeneity, linkage refinement and physical mapping on chromosome 12.
Engle EC, et al.
Am J Hum Genet 57 : 1086-1094. 1995
15FEOM1
Mapping a gene for congenital fibrosis of the extraocular muscles to thecentromeric region of chromosome 12.
Engle EC, et al.
Nat Genet 7 : 69-73. 1994