Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 223

1.

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. doi: 10.1167/iovs.10-5438. Epub 2010 Apr 14.

2.
3.

Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome.

Demer JL, Clark RA, Lim KH, Engle EC.

Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5505-11.

4.
5.

[Magnetic resonance imaging features in two Chinese family with congenital fibrosis of extraocular muscles].

Wu L, Zhou LH, Liu CS, Cha YF, Wang J, Xing YQ.

Zhonghua Yan Ke Za Zhi. 2009 Nov;45(11):971-6. Chinese.

PMID:
20137413
7.
8.

Splitting of the extraocular horizontal rectus muscle in congenital cranial dysinnervation disorders.

Okanobu H, Kono R, Miyake K, Ohtsuki H.

Am J Ophthalmol. 2009 Mar;147(3):550-556.e1. doi: 10.1016/j.ajo.2008.09.015. Epub 2008 Nov 26.

PMID:
19038376
9.

Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome.

Dumars S, Andrews C, Chan WM, Engle EC, Demer JL.

J AAPOS. 2008 Aug;12(4):381-9. doi: 10.1016/j.jaapos.2008.01.018. Epub 2008 May 2.

10.

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.

Engle EC, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH.

Ann Neurol. 1997 Mar;41(3):314-25.

PMID:
9066352
11.

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. doi: 10.1002/ajmg.a.37362. Epub 2015 Dec 6.

12.

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
13.

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.

PMID:
28459979
14.

MRI findings in Duane's ocular retraction syndrome.

Xia S, Li RL, Li YP, Qian XH, Chong V, Qi J.

Clin Radiol. 2014 May;69(5):e191-8. doi: 10.1016/j.crad.2013.12.010. Epub 2014 Mar 14.

PMID:
24631280
15.

High-resolution magnetic resonance imaging of the extraocular muscles and nerves demonstrates various etiologies of third nerve palsy.

Kau HC, Tsai CC, Ortube MC, Demer JL.

Am J Ophthalmol. 2007 Feb;143(2):280-287. Epub 2006 Nov 27.

18.

Magnetic resonance imaging of bilateral split lateral rectus transposition to the medial globe.

Chaudhuri Z, Demer JL.

Graefes Arch Clin Exp Ophthalmol. 2015 Sep;253(9):1587-90. doi: 10.1007/s00417-015-3071-6. Epub 2015 Jul 2.

19.

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC.

Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31.

20.

Variable synergistic divergence.

Kim JH, Hwang JM.

Optom Vis Sci. 2009 Dec;86(12):1386-8. doi: 10.1097/OPX.0b013e3181be9db3.

PMID:
19826317

Supplemental Content

Support Center