Results 131 to 140 of about 264,225 (169)

<i>KCNV2</i>-Deficient Retinal Organoid Model of Cone Dystrophy-In Vitro Screening for AAV Gene Replacement Therapy. [PDF]

Int J Mol Sci
Busson SL, Naeem A, Ferrara S, Sarcar S, Adefila-Ideozu T, Wells S, El Alami S, Boot J, Sladen PE, Michaelides M, Georgiadis A, Lane A.   +11 more
europepmc   +1 more source

A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect. [PDF]

Hum Mol Genet, 2021
Kohl S, Llavona P, Sauer A, Reuter P, Weisschuh N, Kempf M, Dehmelt FA, Arrenberg AB, Sliesoraityte I, Zrenner E, van Schooneveld MJ, Rudolph G, Kühlewein L, Wissinger B.   +13 more
europepmc   +1 more source

A Rare Case of Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy. [PDF]

Cureus
Quaicoe ASP, Cornish EE, Chong R.
europepmc   +1 more source

Novel compound heterozygous <i>CNGA3</i> mutation associated with retinal cone dystrophy. [PDF]

Exp Ther Med
Sun R, Wang Y, Zhou W, Chen S, Li Y, Pan M, Ji D, Li J, Shi X.   +8 more
europepmc   +1 more source

Impaired Ca²⁺ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells. [PDF]

Int J Mol Sci, 2021
Marino V, Dal Cortivo G, Maltese PE, Placidi G, De Siena E, Falsini B, Bertelli M, Dell'Orco D.   +7 more
europepmc   +1 more source

Homozygous Frameshift Mutation in the BBS10 Gene Causing Bardet-Biedl Syndrome with Rod-Cone Dystrophy: A Case Report. [PDF]

Korean J Ophthalmol
Heo J, Jeong YH, Park SW, Byon I, Kwon HJ.   +4 more
europepmc   +1 more source

Mitochondrial functional impairment in <i>ARL3</i>-mutation related rod-cone dystrophy. [PDF]

FASEB Bioadv
Zhang X, Yao S, Zhang L, Zhang B, Yang M, Guo Q, Xu J, Wang Z, Lei B, Jin X.   +9 more
europepmc   +1 more source

Yap haploinsufficiency leads to Müller cell dysfunction and late-onset cone dystrophy. [PDF]

Cell Death Dis, 2020
Masson C, García-García D, Bitard J, Grellier ÉK, Roger JE, Perron M.   +5 more
europepmc   +1 more source

Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy. [PDF]

Genes (Basel)
Ridgeway AR, Shortall C, Finnegan LK, Long R, Matthews E, Dockery A, Kopčić E, Whelan L, Kirk C, Silvestri G, Turner J, Keegan DJ, Millington-Ward S, Chadderton N, Duignan E, Kenna PF, Farrar GJ.   +16 more
europepmc   +1 more source

Longitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study. [PDF]

Ophthalmol Sci
Britten-Jones AC, Luu CD, Jolly JK, Abbott CJ, Allen PJ, Lamey T, McLaren T, Thompson JA, De Roach J, Edwards TL, Ayton LN.   +10 more
europepmc   +1 more source