Results 131 to 140 of about 2,525,884 (192)

DGAT1-associated lipid-retinoid dysregulation correlates with metabolic impairment in the RPE of Stargardt disease. [PDF]

iScience
Dave A, Ng ESY, Jiang Z, Hu J, Tatang J, Paniagua A, Doeve J, Parikh S, Williams KJ, Stiles L, Radu RA.   +10 more
europepmc   +1 more source

Rod-cone dystrophy with myriad systemic manifestations. [PDF]

Oman J Ophthalmol
Patil G, Pandarasamy P, Reddy NVSK, Ganne P.   +3 more
europepmc   +1 more source

Genotype frequency of Stargardt disease in Labrador Retrievers in Japan. [PDF]

J Vet Med Sci
Takanosu M.
europepmc   +1 more source

Exendin-4 averts all-trans-retinal-driven damage to photoreceptors and the retina via the GLP-1R/PKA/CREB1 signaling axis. [PDF]

Cell Mol Biol Lett
He B, Chen Y, Cai P, Xi R, Shen X, Guo S, Chen J, Li S, Wu Y.   +8 more
europepmc   +1 more source

Socioeconomic and clinical factors associated with genetic testing completion in Stargardt disease. [PDF]

Genet Med Open
Wang DT, Antonio-Aguirre B, Pan A, Ruggeri ML, Mehta SP, Smith CH, Guthrie KS, Applegate C, Doyle JJ, Singh MS.   +9 more
europepmc   +1 more source

ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants. [PDF]

Front Genet, 2019
Hu FY, Li JK, Gao FJ, Qi YH, Xu P, Zhang YJ, Wang DD, Wang LS, Li W, Wang M, Chen F, Shen SM, Xu GZ, Zhang SH, Chang Q, Wu JH.   +15 more
europepmc   +1 more source

Diagnostic yield and variant spectrum of whole-exome sequencing in Iranian probands with congenital and early-onset ocular disorders. [PDF]

Mol Genet Metab Rep
Asadi A, Sadat Shandiz SA, Ebrahimi A, Hosseini ZS, Shirsalimi N, Neamatzadeh H, Ebrahimi A.   +6 more
europepmc   +1 more source

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings. [PDF]

Invest Ophthalmol Vis Sci
Heath Jeffery RC, Thompson JA, Lo J, Vincent AL, Patil M, Bianco L, Battaglia Parodi M, Ziccardi L, Dell'Aquila C, Barbano L, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Chou J, Lamey TM, McLenachan S, Roshandel D, Fujinami K, Chelva E, McLaren TL, Chen FK.   +31 more
europepmc   +1 more source

Precision Medicine in Inherited Retinal Disease: Advances, Challenges, and Future Directions. [PDF]

J Pers Med
Dhivagaran T, Butt FR, Grover K, Devgan K, Sachdeva K, Dhivagaran V, Abid F, Tao BK, Balas M, Dimopoulos I, Bhatti A.   +10 more
europepmc   +1 more source

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population. [PDF]

Invest Ophthalmol Vis Sci
Shalom S, Gradstein L, Pras E, Valensi J, Birk OS, Blumenfeld A, Eilat A, Macarov M, Poleg T, Cremers FPM, Roosing S, Panneman DM, Hollander N, Goldenberg-Cohen N, Yahalom C, Banin E, Ben-Yosef T, Sharon D.   +17 more
europepmc   +1 more source