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Items: 1 to 20 of 101

1.

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 Jul-Aug;19(4):667-74.

PMID:
19551685
2.

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. doi: 10.1001/archopht.126.3.388.

PMID:
18332320
3.

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 1;11:245-8.

PMID:
15827546
4.

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 3rd, Engle EC.

Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2218-23.

PMID:
15223798
5.

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.

PMID:
15621876
6.

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 13;16:2062-70.

PMID:
21042561
7.
8.

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. doi: 10.1080/13816810701850058.

PMID:
18363169
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 20;17:218-24.

PMID:
21264235
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. Review.

PMID:
16157808
11.

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 Nov-Dec;49(6):443-7.

PMID:
16365788
12.

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. doi: 10.1080/13816810802697473.

PMID:
19373680
14.

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.

PMID:
23535681
15.

CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.

Doherty EJ, Macy ME, Wang SM, Dykeman CP, Melanson MT, Engle EC.

Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1687-94.

PMID:
10393037
16.

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 4;386(4):639-44. doi: 10.1016/j.bbrc.2009.06.109. Epub 2009 Jun 24.

PMID:
19559006
17.

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. Epub 2002 Mar 6.

PMID:
11882252
18.

[R954 mutations in KIF21A gene in Chinese patients with congenital fibrosis of extraocular muscles].

Li ND, Zhao J, Wang LM, Chen X, Ma HZ, Zhu LN, Guo X, Zhao KX.

Zhonghua Yan Ke Za Zhi. 2012 Dec;48(12):1077-82. Chinese.

PMID:
23336411
19.

Congenital fibrosis of the extraocular muscles.

Heidary G, Engle EC, Hunter DG.

Semin Ophthalmol. 2008 Jan-Feb;23(1):3-8. doi: 10.1080/08820530701745181. Review.

PMID:
18214786
20.

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. doi: 10.3892/ijmm.2011.759. Epub 2011 Jul 26.

PMID:
21805025

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