Results 151 to 160 of about 27,235 (216)

Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report. [PDF]

Genes (Basel)
Giansanti F, Nicolosi C, Giorgio D, Sodi A, Mucciolo DP, Pavese L, Pollazzi L, Virgili G, Vicini G, Passerini I, Pelo E, Murro V.   +11 more
europepmc   +1 more source

HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells. [PDF]

Dis Model Mech
Luo S, Alwattar B, Li Q, Bora K, Blomfield AK, Lin J, Fulton A, Chen J, Agrawal PB.   +8 more
europepmc   +1 more source

Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss. [PDF]

Mol Genet Genomic Med
German RJ, Vuocolo B, Vossaert L, Owen N, Lewis RA, Saba L, Texome Project, Wangler MF, Nagamani S.   +8 more
europepmc   +1 more source

A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature. [PDF]

Mol Syndromol
Hasturk BA, Cinar Ç, Zubarioglu T, Tiryaki-Demir S, Cansever MS, Kiykim E, Kalaycı Yigin A, Yalcinkaya C, Aktuglu-Zeybek C.   +8 more
europepmc   +1 more source

Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy. [PDF]

Invest Ophthalmol Vis Sci
Daich Varela M, Dixit M, Kalitzeos A, Michaelides M.   +3 more
europepmc   +1 more source

RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping. [PDF]

Am J Ophthalmol
Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M.   +14 more
europepmc   +1 more source

Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. [PDF]

Int J Mol Sci
Maggi J, Feil S, Gloggnitzer J, Maggi K, Bachmann-Gagescu R, Gerth-Kahlert C, Koller S, Berger W.   +7 more
europepmc   +1 more source

Genetics of the Retinal Dystrophies

, 2018
Merepa, S, Broadgate, S, Sekaran, S, Halford, S   +3 more
openaire   +1 more source