Results 141 to 150 of about 2,008 (179)

Secondary Ophthalmic Features Represent Diagnostic Clues and Potential Points of Intervention for Inherited Retinal Diseases (Target 5000 Report 3). [PDF]

Genes (Basel)
Stephenson KAJ, Zhu J, Conway M, Moran B, Dockery A, Whelan L, Turner J, O'Byrne JJ, Flitcroft DI, Farrar GJ, Keegan DJ.   +10 more
europepmc   +1 more source

Phosphodiesterase 5 expression in photoreceptors rescues retinal degeneration induced by deregulation of membrane guanylyl cyclase. [PDF]

J Biol Chem
Dizhoor AM, Sato S, Luo Z, Tan L, Levin FE, Olshevskaya EV, Peshenko IV, Kefalov VJ.   +7 more
europepmc   +1 more source

Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing. [PDF]

Int J Mol Sci
Zafar A, Baig RM, Arshad A, Rashid A, Oreshkov S, Frederiksen HN, Ansar M.   +6 more
europepmc   +1 more source

Non-viral gene therapy for Leber's congenital amaurosis: progress and possibilities. [PDF]

Nanomedicine (Lond)
Abdulsalam L, Mordecai J, Ahmad I.
europepmc   +1 more source

Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs). [PDF]

Biomedicines
D'Esposito F, Capobianco M, Gagliano C, Avitabile A, Gagliano G, Esposito G, Dammino E, Carotenuto A, Zeppieri M.   +8 more
europepmc   +1 more source

Infantile Nystagmus Syndrome-Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials. [PDF]

Life (Basel)
Gong X, Hertle RW.
europepmc   +1 more source

Genetics of inherited retinal dystrophies - Global insights and the importance of Omani research.

Oman J Ophthalmol
Harikrishna B, Al-Hattali AS, Al-Lawati F, Ganesh A.   +3 more
europepmc   +1 more source

Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis. [PDF]

Graefes Arch Clin Exp Ophthalmol
Zhou Y, Huang L, Xie Y, Liu W, Zhang S, Liu L, Lin P, Li N.   +7 more
europepmc   +1 more source

Alterations in the foveal avascular zone and surrounding capillary network as important indicators of visual prognosis for hereditary macular dystrophy. [PDF]

Taiwan J Ophthalmol
Lin YC, Ko TC, Yang CH, Chen PH, Yang CM, Chen PL, Kuo BI, Chen TC.   +7 more
europepmc   +1 more source

Joint Screening for Ultra-High Dimensional Multi-Omics Data. [PDF]

Bioengineering (Basel)
Kemmo Tsafack U, Lin CW, Ahn KW.
europepmc   +1 more source