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Items: 1 to 20 of 48


Congenital fibrosis of the extraocular muscles: review of recent literature.

Price JM, Boparai RS, Wasserman BN.

Curr Opin Ophthalmol. 2019 Sep;30(5):314-318. doi: 10.1097/ICU.0000000000000592. Review.


Pulled into two syndrome (PITS) in a case of congenital fibrosis of the extraocular muscle.

Pujari A, Sharma P, Basheer S, Obedulla H, Bhaskaran K, Phuljhele S.

Indian J Ophthalmol. 2019 Jul;67(7):1229-1230. doi: 10.4103/ijo.IJO_1542_18.


Vertical Strabismus - Indication of Surgical Techniques on the Inferior Rectus Muscle.

Krásný J.

Cesk Slov Oftalmol. 2019 Winter;74(4):132-139. doi: 10.31348/2018/1/2-4-2018.


Miosis in a case of congenital fibrosis of extraocular muscles: a rare presentation of a rare disease.

Gupta P, Takkar B, Sarawagi R, Obedulla H.

BMJ Case Rep. 2019 Mar 20;12(3). pii: e229680. doi: 10.1136/bcr-2019-229680. No abstract available.


Ophthalmoplegia and Congenital Cranial Dysinnervation Disorders.

Oystreck DT.

J Binocul Vis Ocul Motil. 2018 Jan-Mar;68(1):31-33. doi: 10.1080/2576117X.2017.1416242. Epub 2018 Jan 31. Review.


Comparison of Clinical and Radiological Findings between Congenital Orbital Fibrosis and Congenital Fibrosis of the Extraocular Muscles.

Kim N, Yang HK, Kim JH, Hwang JM.

Curr Eye Res. 2018 Dec;43(12):1471-1476. doi: 10.1080/02713683.2018.1506037. Epub 2018 Aug 6.


Structural analyses of key features in the KANK1·KIF21A complex yield mechanistic insights into the cross-talk between microtubules and the cell cortex.

Weng Z, Shang Y, Yao D, Zhu J, Zhang R.

J Biol Chem. 2018 Jan 5;293(1):215-225. doi: 10.1074/jbc.M117.816017. Epub 2017 Nov 20.


Selective aplasia of global fibres of all extraocular muscles in congenital fibrosis of extraocular muscles (CFEOM): a rare presentation.

Saini M, Sharma P, Gaur N, Singh J.

BMJ Case Rep. 2017 Nov 9;2017. pii: bcr-2017-221622. doi: 10.1136/bcr-2017-221622. No abstract available.


A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles.

Abu-Amero KK, Kondkar AA, Khan AO.

BMC Res Notes. 2017 Nov 6;10(1):562. doi: 10.1186/s13104-017-2888-y.


Management of a case of divergent strabismus fixus secondary to a congenital fibrosis of extraocular muscles type 2.

Matalia JH, Panmand P, Ghalla P.

Indian J Ophthalmol. 2017 Oct;65(10):1061-1063. doi: 10.4103/ijo.IJO_377_17.


A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nürnberg G, Thoenes M, Becker J, Altmüller J, Volk AE, Kubisch C, Heller R.

Hum Mol Genet. 2017 Oct 15;26(20):4055-4066. doi: 10.1093/hmg/ddx296.


Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1.

Chen H, Liu T, Zeng Z, Wang Y, Lin Y, Cheng L, Pan Q, Gu F, Song Z, Zhang Z.

Medicine (Baltimore). 2017 Sep;96(38):e8068. doi: 10.1097/MD.0000000000008068.


Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders.

Kim JH, Hwang JM.

Korean J Ophthalmol. 2017 Jun;31(3):183-193. doi: 10.3341/kjo.2017.0024. Epub 2017 May 12. Review.


Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.

Whitman MC, Engle EC.

Hum Mol Genet. 2017 Aug 1;26(R1):R37-R44. doi: 10.1093/hmg/ddx168. Review.


An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM.

Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984.


Surgically Induced Necrotizing Scleritis Following Strabismus Surgery Treated Successfully with Topical N-acetylcysteine in a Child with Congenital Fibrosis of Extraocular Muscles and Varadi Papp Syndrome.

Rajamani M, Nagasubramanian V, Ayyavoo A, Raghupathy P, Dandapani R.

Strabismus. 2017 Mar;25(1):39-42. doi: 10.1080/09273972.2016.1277768. Epub 2017 Jan 31.


Congenital entropion and hypotropia secondary to duplication of the inferior rectus muscle.

Shazly TA, Stefko ST.

J AAPOS. 2017 Feb;21(1):85-87. doi: 10.1016/j.jaapos.2016.09.022. Epub 2017 Jan 9.


Variability of Ponto-cerebellar Fibers by Diffusion Tensor Imaging in Diverse Brain Malformations.

Rollins NK, Booth TN, Chahrour MH.

J Child Neurol. 2017 Mar;32(3):271-285. doi: 10.1177/0883073816680734. Epub 2016 Dec 5.


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. doi: 10.3892/mmr.2016.5624. Epub 2016 Aug 11.


Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations.

Bianchi S, van Riel WE, Kraatz SH, Olieric N, Frey D, Katrukha EA, Jaussi R, Missimer J, Grigoriev I, Olieric V, Benoit RM, Steinmetz MO, Akhmanova A, Kammerer RA.

Sci Rep. 2016 Aug 3;6:30668. doi: 10.1038/srep30668.

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