Results 151 to 160 of about 29,682 (236)

Computational Evidence for Digenic Contribution of <i>AIPL1</i> and <i>BBS2</i> Rare Variants in Inherited Retinal Dystrophy. [PDF]

Int J Mol Sci
Alibrandi S, Scimone C, Abate G, Scalinci SZ, Sidoti A, Donato L.   +5 more
europepmc   +1 more source

Early-Onset Cone Photoreceptor Degeneration Is Associated With High Myopia in <i>RPGR</i>-Related Retinal Dystrophy. [PDF]

J Ophthalmol
Raji S, Taylor LJ, Josan AS, MacLaren RE, Cehajic-Kapetanovic J.   +4 more
europepmc   +1 more source

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy. [PDF]

Invest Ophthalmol Vis Sci
Panneman DM, Hitti-Malin RJ, McKibbin M, de Bruijn SE, Boonen EGM, Vincent AL, Vargas G, Corominas J, Astuti G, Gilissen C, De Baere E, Inglehearn CF, Roosing S, Koenekoop RK, Cremers FPM.   +14 more
europepmc   +1 more source

Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated With Voretigene Neparvovec. [PDF]

Transl Vis Sci Technol
Merle DA, Hertens L, Dimopoulos S, Kohl S, Van Haute M, De Baere E, De Bruyne M, Janssens B, Rüther K, Huchzermeyer C, Mazzola P, Nerinckx F, Haack T, Wolfram L, Kempf M, Kühlewein L, Stingl K, Leroy BP, Stingl K.   +18 more
europepmc   +1 more source

Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7. [PDF]

Am J Hum Genet
Gardner JC, Jovanovic K, Ottaviani D, Melo US, Jackson J, Guarascio R, Ziaka K, Hau KL, Lane A, Taylor RL, Chai N, Gkertsou C, Fernando O, Piwecka M, Georgiou M, Mundlos S, Black GC, Moore AT, Michaelides M, Cheetham ME, Hardcastle AJ.   +20 more
europepmc   +1 more source

Voretigene neparvovec in RPE65-related inherited retinal dystrophy: the 1-year real-world study LIGHT. [PDF]

Eye (Lond)
Audo I, Barale PO, Devisme C, Mohand-Said S, Meunier I, Smirnov VM, Dhaenens CM, Andrieu C, Zeitz C, Pagot C, Barbier P, Tindel M, Chapon P, Sahel JA.   +13 more
europepmc   +1 more source

12-month outcomes after voretigene neparvovec gene therapy in paediatric patients with RPE65-mediated inherited retinal dystrophy. [PDF]

Br J Ophthalmol
Daruich A, Rateaux M, Batté E, de Vergnes N, Valleix S, Robert MP, Bremond Gignac D.   +6 more
europepmc   +1 more source

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment. [PDF]

Nat Commun
Zanetti A, Dujardin G, Fares-Taie L, Amiel J, Roger JE, Audo I, Robert MP, David P, Jung V, Goudin N, Guerrera IC, Moriceau S, Amana D, Assia Batzir N, Bachar-Zipori A, Basel Salmon L, Boddaert N, Briault S, Bruel AL, Costet-Fighiera C, Coutinho Santos L, Gitiaux C, Kaminska K, Kuentz P, Orenstein N, Philip-Sarles N, Plutino M, Quinodoz M, Santos C, Sigaudy S, Soeiro E Sá M, Sofrin E, Sousa AB, Sousa-Luis R, Thauvin-Robinet C, van Dijk EL, Zaafrane-Khachnaoui K, Zur D, Kaplan J, Rivolta C, Rozet JM, Perrault I.   +41 more
europepmc   +1 more source

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy. [PDF]

Genet Med
Ehrenberg M, Avraham M, Asodu SS, Moye AR, Sangermano R, Rizel L, Ali-Nasser T, Sher I, Gurwitz D, Chao KR, Rivera A, Webster AR, Rivolta C, Newman H, Pras E, Rotenstreich Y, Banin E, Pierce EA, Zur D, Arno G, Bujakowska KM, Lin S, Sharon D, Ben-Yosef T.   +23 more
europepmc   +1 more source

Expanding the Clinical Spectrum of <i>CEP290</i> Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype. [PDF]

Genes (Basel)
Esteve-Garcia A, Sau C, Padró-Miquel A, Català-Mora J, Aguilera C, Cobos E.   +5 more
europepmc   +1 more source