Results 121 to 130 of about 2,525,884 (192)

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies. [PDF]

Genes (Basel)
Harford D, Conway M, Moran B, Zhu J, Turner J, Dockery A, O'Byrne JJ, Flitcroft DI, Burke T, Stephenson KAJ, Farrar GJ, Keegan DJ.   +11 more
europepmc   +1 more source

Clinical and Population-Specific Insights Into Inherited Retinal Dystrophies From Whole-Exome Sequencing of the Polish Cohort. [PDF]

Invest Ophthalmol Vis Sci
Ognik K, Cholewinska E, Witkowska E, Solek P, Solowiej B, Jonak K, Pietras-Baczewska A, Gajda-Derylo B, Rejdak R, Nowomiejska K.   +9 more
europepmc   +1 more source

Corrigendum to "Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles". [PDF]

J Ophthalmol, 2018
Kamakari S, Kokkinou V, Koutsodontis G, Stamatiou P, Giatzakis C, Anastasakis A, Aslanides IM, Koukoula S, Panagiotoglou T, Datseris I, Tsilimbaris MK.   +10 more
europepmc   +1 more source

The ABCA4 Gene and Age-Related Macular Degeneration

Archives of Ophthalmology, 2001
openaire   +3 more sources

Therapeutic Efficacy of Multi-Characteristic Opsin Gene Therapy in a Mouse Model of Stargardt Disease. [PDF]

Bioengineering (Basel)
Mohanty S, Batabyal S, Kim S, Carlson M, Dibas A.   +4 more
europepmc   +1 more source

Retina-specific long non-coding RNAs associated with inherited retinal disease genes. [PDF]

Cell Mol Life Sci
Delanote E, Ruiz-Ceja KA, Dueñas Rey A, Capasso D, Bouckaert M, Sofia M, Di Guida M, Failli M, Soriano VL, Lenaerts H, Lemeire K, Dorgau B, Verwilt J, De Keulenaer S, Van Nieuwerburgh F, Huizing M, Glorieux S, Volders PJ, D'haene E, De Baere E, Lako M, Remaut K, Sorrentino NC, Mestdagh P, di Bernardo D, Lefever S, Coppieters F, Banfi S.   +27 more
europepmc   +1 more source

Integrating machine learning and GWAS for variant prioritization in the INCIPE cohort highlights ABC transporter genes in chronic kidney disease. [PDF]

Front Genet
Dramane D, Treccani M, Veschetti L, Koffi NBS, Patuzzo C, Ferraro PM, Gambaro G, Noel DD, Malerba G.   +8 more
europepmc   +1 more source

Interdependent roles of PKM2 in photoreceptors and RPE: implications for retinal degeneration. [PDF]

Cell Death Dis
Rajala A, Rajala R, Trevino LJ, Black TM, Moiseyev G, Kinter M, Rajala RVS.   +6 more
europepmc   +1 more source

Stargardt Disease Presenting as Retinitis Pigmentosa: A Case of Monoallelic ABCA4-Associated Retinopathy. [PDF]

Cureus
Santiago-Narváez K, Murati Calderon RA, Izquierdo N.   +2 more
europepmc   +1 more source

Abca4 Knockdown in the Cone-Rich Rodent Psammomys Obesus Leads to Stargardt's Disease-Like Progressive Retinal Degeneration. [PDF]

Invest Ophthalmol Vis Sci
Estay-Ahumada CE, Roux M, Ciocca D, El-Kholti N, Birling MC, Rossolillo P, Felder-Schmittbuhl MP, Hicks D.   +7 more
europepmc   +1 more source