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Development of a New Diagnostic Approach for Inherited Retinal Dystrophies using CRISPRa-Mediated Transcriptional Activation

• Authors : Weber, Valentin Johannes

Subjects: Ophthalmology Clinic; UZH Dissertations; 610 Medicine & health

• Source: Weber, Valentin Johannes. Development of a New Diagnostic Approach for Inherited Retinal Dystrophies using CRISPRa-Mediated

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Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies

• Authors : Moekotte, Lude; de Boer, Joke H.; Hiddingh, Sanne

Subjects: CFH; complement; CRB1

• Source: Investigative Ophthalmology and Visual Science vol.66 (2025) nr.2 [ISSN 0146-0404]

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Clinical, Genetic and Histopathological Characteristics of CRX-associated Retinal Dystrophies

• Authors : Hahn, Leo C; van der Veen, Isa; Georgiou, Michalis

Subjects: Artikel; Article

• Source: Ophthalmology Retina vol.9 (2025) p.78-88 [ISSN 2468-6530]

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Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies

• Authors : Zorgeenheid Oogheelkunde Medisch; MS Oogheelkunde; Infection & Immunity

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

• Authors : Heutinck, Pam A.T.; van den Born, L. Ingeborgh; Vermeer, Maikel

Subjects: gene therapy; inherited retinal dystrophy; pediatric

• Source: Heutinck, P A T, van den Born, L I, Vermeer, M, Iglesias Gonzales, A I, Hoyng, C B, Pott, J W R, Kroes, H Y, van Schooneveld, M J, Boon, C J F, van Genderen, M M, Plomp, A S, de Jong-Hesse, Y, van

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

• Authors : Heutinck, Pam A.T.; van den Born, L. Ingeborgh; Vermeer, Maikel

Subjects: article

• Source: Heutinck, P A T, van den Born, L I, Vermeer, M, Iglesias Gonzales, A I, Hoyng, C B, Pott, J W R, Kroes, H Y, van Schooneveld, M J, Boon, C J F, van Genderen, M M, Plomp, A S, de Jong-Hesse, Y, van

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Quality of life in patients with CRB1-associated retinal dystrophies:A longitudinal study

• Authors : Karuntu, Jessica S.; Nguyen, Xuan Thanh An; Talib, Mays

Subjects: article

• Source: Karuntu, J S, Nguyen, X T A, Talib, M, van Schooneveld, M J, Wijnholds, J, van Genderen, M M, Schalij-Delfos, N E, Klaver, C C W, Meester-Smoor, M A, van den Born, L I, Hoyng, C B, Thiadens, A A H J,

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Decoding EYS-related Retinal Dystrophies : From Clinical Phenotype to Potential Therapeutic Strategies

• Authors : Isla-Magrané, Helena; Duarri, Anna; García Arumí, José

Subjects: EYS; RP25; Retinitis Pigmentosa 25

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Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

• Authors : Heath Jeffery, Rachael C.; Thompson, Jennifer A.; Lo, Johnny

Subjects: humans; peripherins; middle aged

• Source: Wills Eye Hospital Papers

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

• Authors : Heutinck, P.A.T.

Subjects: Ophthalmology - Radboud University Medical Center - DCMN.Article / Letter to editor.

• Source: Investigative Ophthalmology and Visual Science, 65, 10, pp. 40

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