159 related articles for article (PubMed ID: 33251926)
21. 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]
22. Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.
Demer JL; Clark RA; Tischfield MA; Engle EC
Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4600-11. PubMed ID: 20393110
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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; 2000 Aug; 118(8):1090-7. PubMed ID: 10922204
[TBL] [Abstract][Full Text] [Related]
25. [Identification of a novel KIF21A gene mutation in a Chinese family with congenital fibrosis of the extraocular muscles].
Xia CR; Shi LH; Nan J; Hao YZ; Jia Y
Zhonghua Yan Ke Za Zhi; 2022 Mar; 58(3):213-214. PubMed ID: 35280030
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles.
Thomas MG; Maconachie GDE; Kuht HJ; Chan WM; Sheth V; Hisaund M; McLean RJ; Barry B; Al-Diri B; Proudlock FA; Tu Z; Engle EC; Gottlob I
Int J Mol Sci; 2021 Mar; 22(5):. PubMed ID: 33806565
[TBL] [Abstract][Full Text] [Related]
28. [Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].
Yan YS; Hao SJ; Wang G; Peng L; Hu XP; Jiao HY
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Oct; 28(5):490-2. PubMed ID: 21983718
[TBL] [Abstract][Full Text] [Related]
29. Infantile esotropia in a family with
Jang Y; Kwak E; An JY; Jung JH
Ophthalmic Genet; 2022 Oct; 43(5):716-719. PubMed ID: 35765833
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family.
Zhang XQ; Peng JH; Tang ZH; Xu CQ; Zhou X; Gong SX; Liu JY; Wang Q; Liu MG
Yi Chuan Xue Bao; 2006 Aug; 33(8):685-91. PubMed ID: 16939002
[TBL] [Abstract][Full Text] [Related]
32. The optic nerve head in congenital fibrosis of the extraocular muscles.
Khan AO; Shinwari J; Omar A; Khalil D; Al-Anazi M; Al-Amri A; Al-Tassan NA
Ophthalmic Genet; 2011 Sep; 32(3):175-80. PubMed ID: 21449832
[TBL] [Abstract][Full Text] [Related]
33. Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders.
Jia H; Ma Q; Liang Y; Wang D; Chang Q; Zhao B; Zhang Z; Liang J; Song J; Wang Y; Zhang R; Tu Z; Jiao Y
Orphanet J Rare Dis; 2022 Dec; 17(1):431. PubMed ID: 36494820
[TBL] [Abstract][Full Text] [Related]
34. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Whitman MC; Andrews C; Chan WM; Tischfield MA; Stasheff SF; Brancati F; Ortiz-Gonzalez X; Nuovo S; Garaci F; MacKinnon SE; Hunter DG; Grant PE; Engle EC
Am J Med Genet A; 2016 Feb; 170A(2):297-305. PubMed ID: 26639658
[TBL] [Abstract][Full Text] [Related]
35. The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
Smith SC; Olney AH; Beavers A; Spaulding J; Nelson M; Nielsen S; Sanmann JN
Am J Med Genet A; 2020 Sep; 182(9):2161-2167. PubMed ID: 32705776
[TBL] [Abstract][Full Text] [Related]
36. 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; 386(4):639-44. PubMed ID: 19559006
[TBL] [Abstract][Full Text] [Related]
37. [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]
38. 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]
39. The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.
Khan AO; Shaheen R; Alkuraya FS
J AAPOS; 2014 Aug; 18(4):362-7. PubMed ID: 25173900
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
