Results 121 to 130 of about 5,980 (178)

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

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

Inherited retinal dystrophies and orphan designations in the European Union. [PDF]

Eur J Ophthalmol
Moseley J, Leest T, Larsson K, Magrelli A, Stoyanova-Beninska V.   +4 more
europepmc   +1 more source

Near-Infrared Autofluorescence: Early Detection of Retinal Pigment Epithelial Alterations in Inherited Retinal Dystrophies. [PDF]

J Clin Med
Kellner S, Weinitz S, Farmand G, Kellner U.   +3 more
europepmc   +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