Results 161 to 170 of about 10,766 (232)

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

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

Female Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series. [PDF]

Case Rep Ophthalmol
Delaney A, Branham KE, Jayasundera KT, Khan NW, Fahim AT.   +4 more
europepmc   +1 more source

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies. [PDF]

Invest Ophthalmol Vis Sci
Moekotte L, de Boer JH, Hiddingh S, de Ligt A, Nguyen XT, Hoyng CB, Inglehearn CF, McKibbin M, Lamey TM, Thompson JA, Chen FK, McLaren TL, AlTalbishi A, Panneman DM, Boonen EGM, Banfi S, Bocquet B, Meunier I, De Baere E, Koenekoop R, Oldak M, Rivolta C, Roberts L, Ramesar R, Strupaite-Šileikiene R, Kohl S, Farrar GJ, van Vugt M, van Setten J, Roosing S, van den Born LI, Boon CJF, van Genderen MM, Kuiper JJW.   +33 more
europepmc   +1 more source

Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs). [PDF]

Biomedicines
D'Esposito F, Capobianco M, Gagliano C, Avitabile A, Gagliano G, Esposito G, Dammino E, Carotenuto A, Zeppieri M.   +8 more
europepmc   +1 more source

Advances and Challenges in Gene Therapy for Inherited Retinal Dystrophies: A Comprehensive Review. [PDF]

Cureus
Jain R, Daigavane S.
europepmc   +1 more source

Rescue of the disease-associated phenotype in CRISPR-corrected hiPSCs as a therapeutic approach for inherited retinal dystrophies. [PDF]

Mol Ther Nucleic Acids
Siles L, Pomares E.
europepmc   +1 more source

Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants. [PDF]

Sci Rep
Fan X, Li Z, Sha L, Sheng X, Rong W.
europepmc   +1 more source

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies. [PDF]

HGG Adv
Capasso D, Zeuli R, Arno G, Kwint M, Timmermans R, Ruiz-Ceja KA, Karali M, Simonelli F, Signorini S, Valente EM, Cremers FPM, Banfi S, Roosing S, Panneman DM, de Bruijn SE.   +14 more
europepmc   +1 more source