Results 121 to 130 of about 9,513 (213)

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort. [PDF]

Int J Mol Sci, 2023
Zobor D, Brühwiler B, Zrenner E, Weisschuh N, Kohl S.   +4 more
europepmc   +1 more source

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. [PDF]

Front Cell Dev Biol, 2023
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S.   +47 more
europepmc   +1 more source

Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis. [PDF]

BMC Ophthalmol, 2022
Roman AJ, Cideciyan AV, Wu V, Mascio AA, Krishnan AK, Garafalo AV, Jacobson SG.   +6 more
europepmc   +1 more source

Clinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov

Journal of Multidisciplinary Healthcare
Ahmed M Ashour,1,2 Maan H Harbi,1 Fahad S Alshehri,1,2 Saad M Wali,1 Mohammed M Aldurdunji,3 Nasser M Alorfi1 1Department of Pharmacology and Toxicology, College of Pharmacy, Umm Al-Qura University, Makkah, Saudi Arabia; 2King Salman Center for ...
Ashour AM, Harbi MH, Alshehri FS, Wali SM, Aldurdunji MM, Alorfi NM   +5 more
doaj  

A novel <i>CRB1</i> variant presenting as Leber congenital amaurosis-8 with angle-closure glaucoma in a Chinese family. [PDF]

Int J Ophthalmol
Chen G, Wang ZR, Zhao C, Chen HH, Shi JM.   +4 more
europepmc   +1 more source

Visual function restoration in a mouse model of Leber congenital amaurosis via therapeutic base editing. [PDF]

Mol Ther Nucleic Acids, 2023
Jo DH, Jang HK, Cho CS, Han JH, Ryu G, Jung Y, Bae S, Kim JH.   +7 more
europepmc   +1 more source

Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy. [PDF]

BMC Ophthalmol
Wang L, Li M, Dou G, Sun J, Zhou Z, Wang Y, Zhang Z.   +6 more
europepmc   +1 more source

Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis. [PDF]

Stem Cell Reports, 2022
Leung A, Sacristan-Reviriego A, Perdigão PRL, Sai H, Georgiou M, Kalitzeos A, Carr AF, Coffey PJ, Michaelides M, Bainbridge J, Cheetham ME, van der Spuy J.   +11 more
europepmc   +1 more source

Neural Network Prediction of Keratoconus in AIPL1-Linked Leber Congenital Amaurosis: A Proof-of-Concept Pilot Study. [PDF]

J Clin Med
Chow DR, Remtulla R, Vargas G, Leite G, Koenekoop RK.   +4 more
europepmc   +1 more source

Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis. [PDF]

Biomedicines, 2022
Gerhardt MJ, Priglinger CS, Rudolph G, Hufendiek K, Framme C, Jägle H, Salchow DJ, Anschütz A, Michalakis S, Priglinger SG.   +9 more
europepmc   +1 more source