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Literature DB >> 25375877

Quantitative autofluorescence as a clinical tool for expedited differential diagnosis of retinal degeneration.

Marcela Marsiglia¹, Winston Lee¹, Vinit B Mahajan², Jana Zernant¹, François C Delori³, Stephen H Tsang¹, Janet R Sparrow¹.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2015 PMID： 25375877 PMCID： PMC4370211 DOI： 10.1001/jamaophthalmol.2014.4507

Source DB: PubMed Journal: JAMA Ophthalmol ISSN： 2168-6165 Impact factor: 7.389

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6 in total

1. Analysis of the ABCA4 gene by next-generation sequencing.

Authors: Jana Zernant; Carl Schubert; Kate M Im; Tomas Burke; Carolyn M Brown; Gerald A Fishman; Stephen H Tsang; Peter Gouras; Michael Dean; Rando Allikmets
Journal: Invest Ophthalmol Vis Sci Date: 2011-10-31 Impact factor: 4.799

2. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

Authors: Alberta A H J Thiadens; T My Lan Phan; Renate C Zekveld-Vroon; Bart P Leroy; L Ingeborgh van den Born; Carel B Hoyng; Caroline C W Klaver; Susanne Roosing; Jan-Willem R Pott; Mary J van Schooneveld; Norka van Moll-Ramirez; Maria M van Genderen; Camiel J F Boon; Anneke I den Hollander; Arthur A B Bergen; Elfride De Baere; Frans P M Cremers; Andrew J Lotery
Journal: Ophthalmology Date: 2012-01-20 Impact factor: 12.079

3. Quantitative fundus autofluorescence in recessive Stargardt disease.

Authors: Tomas R Burke; Tobias Duncker; Russell L Woods; Jonathan P Greenberg; Jana Zernant; Stephen H Tsang; R Theodore Smith; Rando Allikmets; Janet R Sparrow; François C Delori
Journal: Invest Ophthalmol Vis Sci Date: 2014-05-01 Impact factor: 4.799

4. A novel RPGR mutation masquerading as Stargardt disease.

Authors: Alexander G Bassuk; Tharikarn Sujirakul; Stephen H Tsang; Vinit B Mahajan
Journal: Br J Ophthalmol Date: 2014-01-31 Impact factor: 4.638

5. Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.

Authors: Jennifer H Acton; Jonathan P Greenberg; Vivienne C Greenstein; Marcela Marsiglia; Mirela Tabacaru; R Theodore Smith; Stephen H Tsang
Journal: Exp Eye Res Date: 2013-05-10 Impact factor: 3.467

6. Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.

Authors: Debra A Thompson; Naheed W Khan; Mohammad I Othman; Bo Chang; Lin Jia; Garrett Grahek; Zhijian Wu; Suja Hiriyanna; Jacob Nellissery; Tiansen Li; Hemant Khanna; Peter Colosi; Anand Swaroop; John R Heckenlively
Journal: PLoS One Date: 2012-05-01 Impact factor: 3.240

6 in total

1. CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.

Authors: Katherine J Wert; Alexander G Bassuk; Wen-Hsuan Wu; Lokesh Gakhar; Diana Coglan; MaryAnn Mahajan; Shu Wu; Jing Yang; Chyuan-Sheng Lin; Stephen H Tsang; Vinit B Mahajan
Journal: Hum Mol Genet Date: 2015-05-20 Impact factor: 6.150

Quantitative autofluorescence as a clinical tool for expedited differential diagnosis of retinal degeneration.

1. Analysis of the ABCA4 gene by next-generation sequencing.

2. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

3. Quantitative fundus autofluorescence in recessive Stargardt disease.

4. A novel RPGR mutation masquerading as Stargardt disease.

5. Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.

6. Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.

1. CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.

Review 2. Fundus Autofluorescence and Clinical Applications.

Review 3. Imaging retinal melanin: a review of current technologies.

4. Elevated Fundus Autofluorescence in Monkeys Deficient in Lutein, Zeaxanthin, and Omega-3 Fatty Acids.

5. Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells.

6. Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.