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Items: 1 to 20 of 152

1.

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.

Aleman TS, Cideciyan AV, Aguirre GK, Huang WC, Mullins CL, Roman AJ, Sumaroka A, Olivares MB, Tsai FF, Schwartz SB, Vandenberghe LH, Limberis MP, Stone EM, Bell P, Wilson JM, Jacobson SG.

Invest Ophthalmol Vis Sci. 2011 Aug 29;52(9):6898-910. doi: 10.1167/iovs.11-7701.

2.

Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model.

Sahu B, Chavali VR, Alapati A, Suk J, Bartsch DU, Jablonski MM, Ayyagari R.

Mol Vis. 2015 Mar 13;21:273-84. eCollection 2015.

3.

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

Huang WC, Wright AF, Roman AJ, Cideciyan AV, Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P, Wilson JM, Swaroop A, Jacobson SG.

Invest Ophthalmol Vis Sci. 2012 Aug 15;53(9):5594-608. doi: 10.1167/iovs.12-10070.

4.

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.

Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS.

Ophthalmic Genet. 2014 Sep;35(3):130-7. doi: 10.3109/13816810.2013.804097. Epub 2013 Jun 14.

PMID:
23767994
5.

Correction of the Crb1rd8 allele and retinal phenotype in C57BL/6N mice via TALEN-mediated homology-directed repair.

Low BE, Krebs MP, Joung JK, Tsai SQ, Nishina PM, Wiles MV.

Invest Ophthalmol Vis Sci. 2014 Jan 20;55(1):387-95. doi: 10.1167/iovs.13-13278.

6.

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. Epub 2009 Jul 2.

PMID:
19578027
7.

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM.

Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):70-9. doi: 10.1167/iovs.10-6127.

PMID:
20702822
8.

Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.

Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Harel A, Strom TA, Merin S, Chowers I, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2068-75. doi: 10.1167/iovs.12-11419.

PMID:
23449718
9.

Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function.

Tosi J, Tsui I, Lima LH, Wang NK, Tsang SH.

Curr Eye Res. 2009 May;34(5):395-400. doi: 10.1080/02713680902859639.

10.

Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.

Williams DS, Aleman TS, Lillo C, Lopes VS, Hughes LC, Stone EM, Jacobson SG.

Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3881-9. doi: 10.1167/iovs.08-3358. Epub 2009 Mar 25.

11.

The retinal phenotype of Grk1-/- is compromised by a Crb1 rd8 mutation.

Pak JS, Lee EJ, Craft CM.

Mol Vis. 2015 Nov 30;21:1281-94. eCollection 2015.

12.

CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.

Yzer S, Fishman GA, Racine J, Al-Zuhaibi S, Chakor H, Dorfman A, Szlyk J, Lachapelle P, van den Born LI, Allikmets R, Lopez I, Cremers FP, Koenekoop RK.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3736-44.

PMID:
16936081
13.

Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.

Ophthalmology. 2005 Dec;112(12):2115. Epub 2005 Oct 12.

PMID:
16225923
14.

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.

Jacobson SG, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM.

Invest Ophthalmol Vis Sci. 2009 May;50(5):2368-75. doi: 10.1167/iovs.08-2696. Epub 2008 Dec 30.

15.

Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome.

Sustar M, Perovšek D, Cima I, Stirn-Kranjc B, Hawlina M, Brecelj J.

Doc Ophthalmol. 2015 Jun;130(3):165-77. doi: 10.1007/s10633-015-9487-9. Epub 2015 Feb 7.

PMID:
25663266
16.

The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors.

Luhmann UF, Carvalho LS, Holthaus SM, Cowing JA, Greenaway S, Chu CJ, Herrmann P, Smith AJ, Munro PM, Potter P, Bainbridge JW, Ali RR.

Hum Mol Genet. 2015 Jan 1;24(1):128-41. doi: 10.1093/hmg/ddu424. Epub 2014 Aug 21.

17.

The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypes.

Mattapallil MJ, Wawrousek EF, Chan CC, Zhao H, Roychoudhury J, Ferguson TA, Caspi RR.

Invest Ophthalmol Vis Sci. 2012 May 17;53(6):2921-7. doi: 10.1167/iovs.12-9662. Print 2012.

18.

Differences in the distribution, phenotype and gene expression of subretinal microglia/macrophages in C57BL/6N (Crb1 rd8/rd8) versus C57BL6/J (Crb1 wt/wt) mice.

Aredo B, Zhang K, Chen X, Wang CX, Li T, Ufret-Vincenty RL.

J Neuroinflammation. 2015 Jan 15;12:6. doi: 10.1186/s12974-014-0221-4.

19.

Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications.

Aleman TS, Brodie F, Garvin C, Gewaily DY, Ficicioglu CH, Mills MD, Forbes BJ, Maguire AM, Davidson SL.

Ophthalmic Genet. 2015;36(4):339-48. doi: 10.3109/13816810.2014.885059. Epub 2014 Feb 10.

PMID:
24512365
20.

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.

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