PubMed

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness.

Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C.

Am J Hum Genet. 2009 Nov;85(5):720-9. Epub 2009 Nov 5.PMID: 19896113 [PubMed - in process]Related articles

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Yan D, Ouyang X, Patterson DM, Du LL, Jacobson SG, Liu XZ.

J Hum Genet. 2009 Oct 30. [Epub ahead of print]PMID: 19881469 [PubMed - as supplied by publisher]Related articles

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD.

Am J Hum Genet. 2009 Nov;85(5):581-92. Epub 2009 Oct 22.PMID: 19853238 [PubMed - in process]Related articles

Normal Central Retinal Function and Structure Preserved in Retinitis Pigmentosa.

Jacobson S, Roman A, Aleman T, Sumaroka A, Herrera W, Windsor E, Atkinson L, Schwartz S, Steinberg J, Cideciyan A.

Invest Ophthalmol Vis Sci. 2009 Sep 24. [Epub ahead of print]PMID: 19797198 [PubMed - as supplied by publisher]Related articles

Subconjunctivally implantable hydrogels with degradable and thermoresponsive properties for sustained release of insulin to the retina.

Misra GP, Singh RS, Aleman TS, Jacobson SG, Gardner TW, Lowe TL.

Biomaterials. 2009 Nov;30(33):6541-7. Epub 2009 Aug 25.PMID: 19709741 [PubMed - in process]Related articles

Vision 1 year after gene therapy for Leber's congenital amaurosis.

Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, Windsor EA, Conlon TJ, Sumaroka A, Roman AJ, Byrne BJ, Jacobson SG.

N Engl J Med. 2009 Aug 13;361(7):725-7. No abstract available. PMID: 19675341 [PubMed - indexed for MEDLINE]Related articles

Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year.

Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, Windsor EA, Conlon TJ, Sumaroka A, Pang JJ, Roman AJ, Byrne BJ, Jacobson SG.

Hum Gene Ther. 2009 Sep;20(9):999-1004.PMID: 19583479 [PubMed - in process]Related articles

CERKL Mutations Cause an Autosomal Recessive Cone-Rod Dystrophy With Inner Retinopathy.

Aleman T, Soumittra N, Cideciyan AV, Sumaroka A, Ramprasad V, 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 Jul 2. [Epub ahead of print]PMID: 19578027 [PubMed - as supplied by publisher]Related articles

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.

Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Swider M, Herrera W, Stone EM.

Mol Vis. 2009 Jun 2;15:1098-106.PMID: 19503738 [PubMed - indexed for MEDLINE]Related articlesFree article

Predicting the pathogenicity of RPE65 mutations.

Philp AR, Jin M, Li S, Schindler EI, Iannaccone A, Lam BL, Weleber RG, Fishman GA, Jacobson SG, Mullins RF, Travis GH, Stone EM.

Hum Mutat. 2009 Aug;30(8):1183-8.PMID: 19431183 [PubMed - indexed for MEDLINE]Related articles

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, Macdonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N.

Nat Genet. 2009 Jun;41(6):739-45. Epub 2009 May 10.PMID: 19430481 [PubMed - in process]Related articles

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.

Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN Jr, Pierce EA, Inglehearn CF.

Am J Hum Genet. 2009 May;84(5):683-91. Epub 2009 Apr 30.PMID: 19409519 [PubMed - indexed for MEDLINE]Related articlesFree article

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.

Maeda T, Cideciyan AV, Maeda A, Golczak M, Aleman TS, Jacobson SG, Palczewski K.

Hum Mol Genet. 2009 Jun 15;18(12):2277-87. Epub 2009 Apr 1.PMID: 19339306 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2009 Mar 25.PMID: 19324852 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2009 Mar 25.PMID: 19324851 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2008 Dec 30.PMID: 19117922 [PubMed - indexed for MEDLINE]Related articlesFree article

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. Epub 2008 Dec 13.PMID: 19074810 [PubMed - indexed for MEDLINE]Related articles

ABCA4 disease progression and a proposed strategy for gene therapy.

Cideciyan AV, Swider M, Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EA, Roman AJ, Sumaroka A, Steinberg JD, Jacobson SG, Stone EM, Palczewski K.

Hum Mol Genet. 2009 Mar 1;18(5):931-41. Epub 2008 Dec 12.PMID: 19074458 [PubMed - indexed for MEDLINE]Related articles

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.

Cideciyan AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, Roman AJ, Pang JJ, Sumaroka A, Windsor EA, Wilson JM, Flotte TR, Fishman GA, Heon E, Stone EM, Byrne BJ, Jacobson SG, Hauswirth WW.

Proc Natl Acad Sci U S A. 2008 Sep 30;105(39):15112-7. Epub 2008 Sep 22.PMID: 18809924 [PubMed - indexed for MEDLINE]Related articlesFree article

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.

Hauswirth WW, Aleman TS, Kaushal S, Cideciyan AV, Schwartz SB, Wang L, Conlon TJ, Boye SL, Flotte TR, Byrne BJ, Jacobson SG.

Hum Gene Ther. 2008 Oct;19(10):979-90.PMID: 18774912 [PubMed - indexed for MEDLINE]Related articles