214 related articles for article (PubMed ID: 23535681)
1. 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]
2. A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.
Kaçar Bayram A; Per H; Quon J; Canpolat M; Ülgen E; Doğan H; Gumus H; Kumandas S; Bayram N; Bilguvar K; Çağlayan AO
Eur J Paediatr Neurol; 2015 Nov; 19(6):743-6. PubMed ID: 26190014
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. [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. PubMed ID: 23336411
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. [A family of congenital fibrosis of extraocular muscles associated with naso-sinusitis].
Zhou LH; Wu L; Zhu Y; Wang J; Xing YQ
Zhonghua Yan Ke Za Zhi; 2012 Mar; 48(3):262-6. PubMed ID: 22800426
[TBL] [Abstract][Full Text] [Related]
12. A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.
Ali Z; Xing C; Anwar D; Itani K; Weakley D; Gong X; Pascual JM; Mootha VV
Mol Vis; 2014; 20():368-75. PubMed ID: 24715754
[TBL] [Abstract][Full Text] [Related]
13. Congenital fibrosis of the extraocular muscles.
Heidary G; Engle EC; Hunter DG
Semin Ophthalmol; 2008; 23(1):3-8. PubMed ID: 18214786
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.
Whitman MC; Engle EC
Hum Mol Genet; 2017 Aug; 26(R1):R37-R44. PubMed ID: 28459979
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia.
Yoshida K; Okano T; Hoshi K; Yahikozawa H; Suzuki K; Banno H; Tamura T; Sobue G; Ikeda S
Am J Med Genet A; 2007 Jul; 143A(13):1494-501. PubMed ID: 17551929
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
