Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 98

1.

Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.

Jacobson SG, Aleman TS, Sumaroka A, Cideciyan AV, Roman AJ, Windsor EA, Schwartz SB, Rehm HL, Kimberling WJ.

Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1886-94. doi: 10.1167/iovs.08-3122.

PMID:
19074810
2.

Retinal disease course in Usher syndrome 1B due to MYO7A mutations.

Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS.

Invest Ophthalmol Vis Sci. 2011 Oct 7;52(11):7924-36. doi: 10.1167/iovs.11-8313.

3.

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations.

Aleman TS, Cideciyan AV, Sumaroka A, Windsor EA, Herrera W, White DA, Kaushal S, Naidu A, Roman AJ, Schwartz SB, Stone EM, Jacobson SG.

Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1580-90. doi: 10.1167/iovs.07-1110.

4.

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.

Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore AT, Luxon LM, Bitner-Glindzicz M, Webster AR.

Ophthalmology. 2014 Feb;121(2):580-7. doi: 10.1016/j.ophtha.2013.09.017.

PMID:
24199935
5.

Normal central retinal function and structure preserved in retinitis pigmentosa.

Jacobson SG, Roman AJ, Aleman TS, Sumaroka A, Herrera W, Windsor EA, Atkinson LA, Schwartz SB, Steinberg JD, Cideciyan AV.

Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1079-85. doi: 10.1167/iovs.09-4372.

PMID:
19797198
6.

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.

Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG.

Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2651-60. doi: 10.1167/iovs.07-1505.

PMID:
18281613
7.

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.

Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA, Steinberg JD, Branham K, Othman M, Swaroop A, Jacobson SG.

Invest Ophthalmol Vis Sci. 2007 Oct;48(10):4759-65.

8.

Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations.

Sumaroka A, Matsui R, Cideciyan AV, McGuigan DB 3rd, Sheplock R, Schwartz SB, Jacobson SG.

Invest Ophthalmol Vis Sci. 2016 Jul 1;57(9):OCT253-61. doi: 10.1167/iovs.15-18860.

PMID:
27409480
9.
10.

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS.

Hum Mol Genet. 2008 Aug 1;17(15):2405-15. doi: 10.1093/hmg/ddn140.

11.

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A.

Mol Vis. 2007 Oct 2;13:1862-5.

PMID:
17960123
12.

Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.

Gibbs D, Cideciyan AV, Jacobson SG, Williams DS.

Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4386-93. doi: 10.1167/iovs.09-3471.

13.

Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.

Ben Rebeh I, Morinière M, Ayadi L, Benzina Z, Charfedine I, Feki J, Ayadi H, Ghorbel A, Baklouti F, Masmoudi S.

Mol Vis. 2010 Sep 30;16:1898-906.

14.

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG.

Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5944-54. doi: 10.1167/iovs.09-3982.

PMID:
19578027
15.

The many different cellular functions of MYO7A in the retina.

Williams DS, Lopes VS.

Biochem Soc Trans. 2011 Oct;39(5):1207-10. doi: 10.1042/BST0391207. Review.

16.

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millán JM.

Hum Mutat. 2006 Mar;27(3):290-1.

PMID:
16470552
17.

The transition zone between healthy and diseased retina in patients with retinitis pigmentosa.

Hood DC, Lazow MA, Locke KG, Greenstein VC, Birch DG.

Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):101-8. doi: 10.1167/iovs.10-5799.

18.

Phenotypes in defined genotypes including siblings with Usher syndrome.

Malm E, Ponjavic V, Möller C, Kimberling WJ, Andréasson S.

Ophthalmic Genet. 2011 Jun;32(2):65-74. doi: 10.3109/13816810.2010.536064.

PMID:
21174530
19.

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.

Schwartz SB, Aleman TS, Cideciyan AV, Windsor EA, Sumaroka A, Roman AJ, Rane T, Smilko EE, Bennett J, Stone EM, Kimberling WJ, Liu XZ, Jacobson SG.

Invest Ophthalmol Vis Sci. 2005 Feb;46(2):734-43.

PMID:
15671307
20.

Visual impairment in Finnish Usher syndrome type III.

Plantinga RF, Pennings RJ, Huygen PL, Sankila EM, Tuppurainen K, Kleemola L, Cremers CW, Deutman AF.

Acta Ophthalmol Scand. 2006 Feb;84(1):36-41.

Items per page

Supplemental Content

Support Center