Results 111 to 120 of about 5,980 (178)

State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics. [PDF]

J Clin Med
Nebbioso M, Artico M, Gharbiya M, Mannocci A, Limoli PG, Iannetta D, Donato L.   +6 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

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

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

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

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

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies. [PDF]

Int J Mol Sci
Rodilla C, Núñez-Moreno G, Benitez Y, Rodríguez de Alba M, Blanco-Kelly F, López-Alcojor A, Fernández-Caballero L, Perea-Romero I, Del Pozo-Valero M, García-García G, Balanzá M, Villaverde C, Zurita O, Jubin C, Fund C, Delepine M, Leduc A, Deleuze JF, Millán JM, Minguez P, Corton M, Ayuso C.   +21 more
europepmc   +1 more source