79 related articles for article (PubMed ID: 18323871)
1. Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy.
Imai S; Matsuo T; Itoshima E; Ohtsuki H
Acta Med Okayama; 2008 Feb; 62(1):45-53. PubMed ID: 18323871
[TBL] [Abstract][Full Text] [Related]
2. ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy.
Jiang Y; Matsuo T; Fujiwara H; Hasebe S; Ohtsuki H; Yasuda T
Acta Med Okayama; 2005 Apr; 59(2):55-62. PubMed ID: 16049556
[TBL] [Abstract][Full Text] [Related]
3. ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy.
Jiang Y; Matsuo T; Fujiwara H; Hasebe S; Ohtsuki H; Yasuda T
Br J Ophthalmol; 2004 Feb; 88(2):263-7. PubMed ID: 14736788
[TBL] [Abstract][Full Text] [Related]
4. Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy.
Ohkubo SI; Matsuo T; Hasebe K; Shira YH; Itoshima E; Ohtsuki H
J Hum Genet; 2012 Feb; 57(2):122-9. PubMed ID: 22170461
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Paired-like homeodomain proteins Phox2a/Arix and Phox2b/NBPhox have similar genetic organization and independently regulate dopamine beta-hydroxylase gene transcription.
Adachi M; Browne D; Lewis EJ
DNA Cell Biol; 2000 Sep; 19(9):539-54. PubMed ID: 11034547
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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. PubMed ID: 11600883
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Autosomal-dominant inheritance of congenital superior oblique palsy.
Botelho PJ; Giangiacomo JG
Ophthalmology; 1996 Sep; 103(9):1508-11. PubMed ID: 8841314
[TBL] [Abstract][Full Text] [Related]
13. Autosomal dominant congenital superior oblique palsy.
Bhola RM; Horne GV; Squirrell DM; Chan TK; Kumar D
Eye (Lond); 2001 Aug; 15(Pt 4):479-84. PubMed ID: 11767023
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.
Bagnall RD; Crompton DE; Cutmore C; Regan BM; Berkovic SF; Scheffer IE; Semsarian C
Neurology; 2014 Sep; 83(11):1018-21. PubMed ID: 25085640
[TBL] [Abstract][Full Text] [Related]
18. KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.
Chen J; Ye Q; Deng D; Yan J; Lin H; Shen T; Lin Y
Mol Med Rep; 2016 Oct; 14(4):3145-51. PubMed ID: 27513105
[TBL] [Abstract][Full Text] [Related]
19. 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]
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. PubMed ID: 21805025
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]