Results 171 to 180 of about 9,124 (223)

Inherited retinal dystrophies and regulated protein clearance [PDF]

Acta Ophthalmologica, 2018
openaire   +1 more source

Prevalence of IMPG1 and IMPG2 Mutations Leading to Retinitis Pigmentosa or Vitelliform Macular Dystrophy in a Cohort of Patients with Inherited Retinal Dystrophies. [PDF]

Genes (Basel)
Yuan M, Chatterjee S, Leys M, Odom JV, Salido EM.   +4 more
europepmc   +1 more source

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium. [PDF]

Invest Ophthalmol Vis Sci
Heutinck PAT, van den Born LI, Vermeer M, Iglesias Gonzales AI, Hoyng CB, Pott JWR, Kroes HY, van Schooneveld MJ, Boon CJF, van Genderen MM, Plomp AS, de Jong-Hesse Y, van Egmond-Ebbeling MB, Hoefsloot LH, A Bergen A, Klaver CCW, Meester-Smoor MA, Thiadens AAHJ, Verhoeven VJM.   +18 more
europepmc   +1 more source

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies. [PDF]

Clin Genet
Marques JP, Soares CA, Carvalho AL, Estrela-Silva S, Santos LC, Ramos L, Silva E.   +6 more
europepmc   +1 more source

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies. [PDF]

Sci Rep
Kiel C, Biasella F, Stöhr H, Rating P, Spital G, Kellner U, Hufendiek K, Huchzermeyer C, Jaegle H, Ruether K, Weber BHF.   +10 more
europepmc   +1 more source

Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data-Based Read-Depth Approach. [PDF]

Mol Genet Genomic Med
Fabian-Morales GE, Ordoñez-Labastida V, Garcia-Martínez F, Montes-Almanza L, Zenteno JC.   +4 more
europepmc   +1 more source

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023. [PDF]

BMC Ophthalmol
Munir A, Afsar S, Rehman AU.
europepmc   +1 more source

Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes. [PDF]

Mol Syndromol
Basdemirci M, Kocak Eker H.
europepmc   +1 more source