Results 161 to 170 of about 9,124 (223)

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies. [PDF]

Int J Mol Sci
Rodilla C, Núñez-Moreno G, Benitez Y, Rodríguez de Alba M, Blanco-Kelly F, López-Alcojor A, Fernández-Caballero L, Perea-Romero I, Del Pozo-Valero M, García-García G, Balanzá M, Villaverde C, Zurita O, Jubin C, Fund C, Delepine M, Leduc A, Deleuze JF, Millán JM, Minguez P, Corton M, Ayuso C.   +21 more
europepmc   +1 more source

State-of-the-art of gene therapy for inherited retinal dystrophies [PDF]

, 2013
Coll Tané, Mireia, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
core  

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies. [PDF]

Invest Ophthalmol Vis Sci
Moekotte L, de Boer JH, Hiddingh S, de Ligt A, Nguyen XT, Hoyng CB, Inglehearn CF, McKibbin M, Lamey TM, Thompson JA, Chen FK, McLaren TL, AlTalbishi A, Panneman DM, Boonen EGM, Banfi S, Bocquet B, Meunier I, De Baere E, Koenekoop R, Oldak M, Rivolta C, Roberts L, Ramesar R, Strupaite-Šileikiene R, Kohl S, Farrar GJ, van Vugt M, van Setten J, Roosing S, van den Born LI, Boon CJF, van Genderen MM, Kuiper JJW.   +33 more
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

Advances and Challenges in Gene Therapy for Inherited Retinal Dystrophies: A Comprehensive Review. [PDF]

Cureus
Jain R, Daigavane S.
europepmc   +1 more source

Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants. [PDF]

Sci Rep
Fan X, Li Z, Sha L, Sheng X, Rong W.
europepmc   +1 more source

Rescue of the disease-associated phenotype in CRISPR-corrected hiPSCs as a therapeutic approach for inherited retinal dystrophies. [PDF]

Mol Ther Nucleic Acids
Siles L, Pomares E.
europepmc   +1 more source

Inherited retinal dystrophies and orphan designations in the European Union. [PDF]

Eur J Ophthalmol
Moseley J, Leest T, Larsson K, Magrelli A, Stoyanova-Beninska V.   +4 more
europepmc   +1 more source

Voretigene neparvovec for inherited retinal dystrophy

, 2021
openaire   +1 more source

Near-Infrared Autofluorescence: Early Detection of Retinal Pigment Epithelial Alterations in Inherited Retinal Dystrophies. [PDF]

J Clin Med
Kellner S, Weinitz S, Farmand G, Kellner U.   +3 more
europepmc   +1 more source