Results 151 to 160 of about 10,766 (232)

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach. [PDF]

Eye (Lond)
Esteve-Garcia A, Padró-Miquel A, Català-Mora J, Sau C, Yubero D, Corradi Z, Cremers FPM, Barberán-Martínez P, Millán JM, García-García G, Ismael I, Arias L, Cobos E, Aguilera C.   +13 more
europepmc   +1 more source

Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies. [PDF]

BMC Ophthalmol
Wolfram L, Merle DA, Kühlewein L, Reith M, Kempf M, Stingl K, Haack T, Mazzola P, Poths K, Weisschuh N, Wissinger B, Kohl S, Stingl K.   +12 more
europepmc   +1 more source

Innovative therapies for inherited retinal dystrophies: navigating DNA, RNA, and protein approaches. [PDF]

EBioMedicine
Gómez-Escribano AP, García-García G, Pérez-Santamarina E, Aller-Mañas E, Vázquez-Manrique RP, Millán-Salvador JM.   +5 more
europepmc   +1 more source

Letter to the Editor of Heliyon: Could internal limiting membrane peeling before Voretigen neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy?

Heliyon
Mirjana Bjeloš, Ana Ćurić, Mladen Bušić   +2 more
doaj   +1 more source

Genetics of inherited retinal dystrophies - Global insights and the importance of Omani research.

Oman J Ophthalmol
Harikrishna B, Al-Hattali AS, Al-Lawati F, Ganesh A.   +3 more
europepmc   +1 more source

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort. [PDF]

Clin Genet
Demir Ş, Ateş EA, Sevik O, Sözer B, Köse T, Şahin Ö, Arman A, Geçkinli BB.   +7 more
europepmc   +1 more source

Systematic review of genotype-phenotype associations in <i>CRX</i>-associated retinal dystrophies. [PDF]

BMJ Open Ophthalmol
Banjak M, Noureldine J, Mousawi Z, Nehme J, Jaffal L, El Shamieh S.   +5 more
europepmc   +1 more source

Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel <i>PRPH2</i> Variants. [PDF]

Biomedicines
Cascella R, Sebastiani J, Strafella C, Calvino G, Andreucci S, D'ambrosio M, Zampatti S, Levialdi Ghiron JH, Falsini B, Cusumano A, Giardina E.   +10 more
europepmc   +1 more source

Retinal Dystrophies Associated with Mutations in the <i>RP1</i> Gene: Genotype-Phenotype Correlations. [PDF]

Curr Issues Mol Biol
Spagnuolo V, Piergentili M, Passerini I, Murro V, Mucciolo DP, Giorgio D, Maccari M, Pelo E, Biagini I, Giansanti F, Virgili G, Sodi A.   +11 more
europepmc   +1 more source

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population. [PDF]

Sci Rep
Heutinck PAT, Iglesias AI, Farhud DD, van Tienhoven M, Khoshraftar A, Zarif-Yeganeh M, Kia SK, Ghanbari M, Smoor MA, Klaver CCW, Hoefsloot LH, Thiadens AAHJ, Verhoeven VJM.   +12 more
europepmc   +1 more source