Results 221 to 230 of about 5,172,195 (247)

Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations

Woof W, de Guimarães TAC, Al-Khuzaei S, Varela MD, Shah M, Naik G, Sen S, Bagga P, Mendes B, Chan YW, Lin S, Ghoshal B, Liefers B, Fu DJ, Georgiou M, da Silva AS, Nguyen Q, Liu Y, Sumodhee D, Fujinami-Yokokawa Y, Patel PJ, Furman J, Moghul I, Moosajee M, Sallum J, De Silva SR, Lorenz B, Herrmann P, Holz FG, Fujinami K, Webster AR, Mahroo OA, Downes SM, Madhusuhan S, Balaskas K, Michaelides M, Pontikos N.   +36 more
europepmc   +1 more source

Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease. [PDF]

NPJ Genom Med
Hauser BM, Luo Y, Nathan A, Al-Moujahed A, Vavvas DG, Comander J, Pierce EA, Place EM, Bujakowska KM, Gaiha GD, Rossin EJ.   +10 more
europepmc   +1 more source

Screening copy number variations in 35 unsolved inherited retinal disease families. [PDF]

Hum Genet
Liu X, Dai H, Li G, Jia R, Meng X, Yu S, Yang L, Hong J.   +7 more
europepmc   +1 more source

Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients. [PDF]

HGG Adv
Zeuli R, Karali M, de Bruijn SE, Rodenburg K, Scarpato M, Capasso D, Astuti GDN, Gilissen C, Rodríguez-Hidalgo M, Ruiz-Ederra J, Testa F, Simonelli F, Cremers FPM, Banfi S, Roosing S.   +14 more
europepmc   +1 more source

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease. [PDF]

Genome Med
Dueñas Rey A, Del Pozo Valero M, Bouckaert M, Wood KA, Van den Broeck F, Daich Varela M, Thomas HB, Van Heetvelde M, De Bruyne M, Van de Sompele S, Bauwens M, Lenaerts H, Mahieu Q, Josifova D, Genomics England Research Consortium, Rivolta C, O'Keefe RT, Ellingford J, Webster AR, Arno G, Ayuso C, De Zaeytijd J, Leroy BP, De Baere E, Coppieters F.   +24 more
europepmc   +1 more source

Erratum in: Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll. [PDF]

Invest Ophthalmol Vis Sci
europepmc   +1 more source

Linear Cutaneous and Craniofacial Anomalies in a Female Infant

JEADV Clinical Practice, EarlyView.
Kim H. Tran, Kimia Ameri, Joseph M. Lam
wiley   +1 more source

Optical coherence tomography in children with inherited retinal disease

Australasian journal of optometry, The
Recent advances have led to therapeutic options becoming available for people with inherited retinal disease. In particular, gene therapy has been shown to hold great promise for slowing vision loss from inherited retinal disease.
Jasleen K Jolly, Lauren N. Ayton, Thomas L Edwards   +2 more
exaly   +2 more sources

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Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities

Progress in Retinal and Eye Research, 2022
Dror Sharon, Shay Ben-Aroya, Erez Y. Levanon   +2 more
exaly