Results 111 to 120 of about 9,112 (206)

Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar. [PDF]

Genes (Basel)
Abiib S, Khodjet-El-Khil H, Bux RI, El-Akouri K, Okashah S, Ben Omran T, Al Saleh R, Al-Shafai M.   +7 more
europepmc   +1 more source

Mild RPE65-Associated Inherited Retinal Dystrophies: A Multimodal Clinical and Genetic Evaluation. [PDF]

Transl Vis Sci Technol
Wolfram L, Merle DA, Kühlewein L, Kempf M, Stingl K, Kohl S, Stingl K.   +6 more
europepmc   +1 more source

<i>CDHR1</i>-Associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort. [PDF]

Genes (Basel)
Takács Á, Varsányi B, Barboni M, Vámos R, Lesch B, Dobos D, Clapp E, Végh A, Zobor D, Knézy K, Nagy ZZ, Szabó V.   +11 more
europepmc   +1 more source

The socioeconomic impact of inherited retinal dystrophies (IRDs) in Belgium: A cost-of-illness study. [PDF]

PLoS One
Vandersmissen I, Geers J, Denee T, Oinasmaa S, Hoeben D, Zhang X, Aydin B, Cheung S, Billiet L, Joniau I, Daly A, Simoens S, Leroy BP.   +12 more
europepmc   +1 more source

Clinical and Molecular Findings in <i>PROM1</i>-Associated Inherited Retinal Dystrophies. [PDF]

Genes (Basel)
D'Esposito F, Gagliano C, Vallone S, Cappellani F, Gagliano G, Randazzo V, Tognetto D, Esposito G, Zeppieri M.   +8 more
europepmc   +1 more source

Editorial: Inherited retinal dystrophies: a light at the end of the tunnel? [PDF]

Front Cell Dev Biol, 2023
Perkins BD, Lobo GP, Kondkar AA, Millan JM.   +3 more
europepmc   +1 more source

Environmental enrichment as a mitochondria-targeting systems strategy across neurodegenerative diseases and retinal dystrophies. [PDF]

Front Neurosci
Rusciano D, Gagliano C, Avitabile A, Maya-Vetencourt JF.   +3 more
europepmc   +1 more source

Precise CRISPR/Cas9 and Cas12 Correction Using Lipoplexes in Retinal Models Derived from Patients with Inherited Retinal Dystrophies. [PDF]

Cells
Siles L, Ruiz-Nogales S, Méndez-Vendrell P, Pomares E.   +3 more
europepmc   +1 more source

Characterising microstructural retinal changes in children with inherited retinal dystrophies - a retrospective observational cross-sectional study. [PDF]

Graefes Arch Clin Exp Ophthalmol
Holland J, Rodda B, Ruddle JB, Piano ME, Higginbotham EJ, Ayton LN, Jolly JK.   +6 more
europepmc   +1 more source

The Specific Pathogenicity Pattern of the Different <i>CRB1</i> Isoforms Conditions Clinical Severity in Inherited Retinal Dystrophies. [PDF]

Int J Mol Sci
Siles L, Ruiz-Nogales S, Méndez-Vendrell P, Burés-Jelstrup A, Navarro R, Pomares E.   +5 more
europepmc   +1 more source