Results 151 to 160 of about 9,124 (223)

Progression of Rare Inherited Retinal Dystrophies May Be Monitored by Adaptive Optics Imaging. [PDF]

Life (Basel), 2023
Samelska K, Szaflik JP, Śmigielska B, Zaleska-Żmijewska A.   +3 more
europepmc   +1 more source

CRISPR/Cas-mediated activation of genes associated with inherited retinal dystrophies in human cells for diagnostic purposes. [PDF]

JCI Insight
Weber VJ, Reschigna A, Gerhardt MJ, Heigl T, Hinrichsmeyer KS, den Engel SV, Otify DY, Gavrilov Z, Blaser F, Meneau I, Betz C, Bolz HJ, Biel M, Michalakis S, Becirovic E.   +14 more
europepmc   +1 more source

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

Novel pathogenic CERKL variant in Iranian familial with inherited retinal dystrophies: genotype-phenotype correlation. [PDF]

3 Biotech, 2023
Fu S, Fu J, Mobasher-Jannat A, Jadidi K, Li Y, Chen R, Imani S, Cheng J.   +7 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

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

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

New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines. [PDF]

NPJ Genom Med
Fernández-Suárez E, González-Del Pozo M, Méndez-Vidal C, Martín-Sánchez M, Mena M, García-Nuñez A, Bravo-Gil N, Morillo-Sánchez MJ, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.   +10 more
europepmc   +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

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