Results 141 to 150 of about 5,408 (199)

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

Cone-Rod Dystrophy <i>PCARE</i>-Associated Retinopathy. [PDF]

Diagnostics (Basel)
Sopena-Pinilla M, Arruebo-Muñio M, Arias-Alvarez M, Arcas-Carbonell M, Tejada-González P, Lahuerta-Pueyo C, Pérez García D, Pinilla I.   +7 more
europepmc   +1 more source

Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients. [PDF]

Invest Ophthalmol Vis Sci
Cobos E, Català-Mora J, Aguilera C, Biarnés M, Distefano L, Antolín-Maté M, Casaroli-Marano RP, Alforja S, Barberán-Martínez P, Millán JM, García-García G, Santamaría JF, Yubero D, Irigoyen C, Caminal JM, Arias L, Corradi Z, Cremers FPM, Sau C, Jordan-Cumplido S, Esteve-Garcia A.   +20 more
europepmc   +1 more source

Using RNA-targeting CRISPR-Cas13 and engineered U1 systems to target <i>ABCA4</i> splice variants in Stargardt disease. [PDF]

Mol Ther Nucleic Acids
Liou RH, Urrutia-Cabrera D, Liu CF, Wu S, Westin IM, Golovleva I, Liu GS, Kumar S, McLenachan S, Chen FK, Hsu FT, Huang CL, Edwards T, Martin KR, Cheng AW, Wong RCB.   +15 more
europepmc   +1 more source

Lens Opacity in ABCA4-Associated Stargardt Disease Patients in the ProgStar Study. [PDF]

Invest Ophthalmol Vis Sci
Ibukun F, Chan BXJ, Khan J, Wang Y, Ervin AM, Kühlewein L, Strauss RW, Aychoua N, Birch D, Cideciyan A, Singh M, Traboulsi E, Bernstein P, Michaelides M, Kong X.   +14 more
europepmc   +1 more source

Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease. [PDF]

Transl Vis Sci Technol
Zee A, Lee W, Su PY, Zernant J, Tsang SH, Allikmets R.   +5 more
europepmc   +1 more source

<i>ABCA4</i>-associated retinopathy complicated by didanosine-associated retinal toxicity. [PDF]

Am J Ophthalmol Case Rep
Nunziata A, Bianco L, Antropoli A, Arrigo A, Bandello F, Mansour AM, Battaglia Parodi M.   +6 more
europepmc   +1 more source

Dysregulated DNA Methylation in <i>Abca4^-/-</i> Retinal Pigment Epithelium: Insights into Early Stage of Stargardt Disease. [PDF]

Int J Mol Sci
Dave A, Tosevska A, Morselli M, Tom E, Pellegrini M, Skowronska-Krawczyk D, Radu RA.   +6 more
europepmc   +1 more source

An Atypical Neurosensory-Predominant Presentation Associated with a Homozygous <i>NDUFS3</i> Variant: A Diagnostic Challenge Involving Retinal and Hearing Phenotypes. [PDF]

Mol Syndromol
Basan H, Kurt EE, Kasapkara ÇS.
europepmc   +1 more source

Erratum in: Inner Retina Changes in ABCA4-Related Retinopathy: Structure-Function Relationship. [PDF]

Invest Ophthalmol Vis Sci
europepmc   +1 more source