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Results: 1 to 20 of 160

1.

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
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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 18;8:26.

PMID:
17511870
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
[PubMed - indexed for MEDLINE]
Free PMC Article
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 Nov-Dec;49(6):443-7.

PMID:
16365788
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
15621877
[PubMed - indexed for MEDLINE]
13.

Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.

Khan AO, Khalil DS, Al Sharif LJ, Al-Ghadhfan FE, Al Tassan NA.

Ophthalmology. 2010 Jan;117(1):154-8. doi: 10.1016/j.ophtha.2009.06.029. Epub 2009 Nov 5.

PMID:
19896199
[PubMed - indexed for MEDLINE]
14.

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. Epub 2003 Nov 2.

PMID:
14595441
[PubMed - indexed for MEDLINE]
15.

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.

Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC.

Nat Genet. 2001 Nov;29(3):315-20.

PMID:
11600883
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
Free Article
18.

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
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family.

Venkatesh CP, Pillai VS, Raghunath A, Prakash VS, Vathsala R, Pericak-Vance MA, Kumar A.

Mol Vis. 2002 Aug 14;8:294-7.

PMID:
12181522
[PubMed - indexed for MEDLINE]
Free Article
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