Suchergebnisse - "de Jong, Sarah"

PubPharm (29)

1

Spatial Distribution of Missense Variants within Complement Proteins Associates with Age Related Macular Degeneration

enthalten in: medRxiv : the preprint server for health sciences | 2023

von Grunin, M. | de Jong, S. | Palmer, E. | +8

2

Integrating Computational Approaches to Predict the Effect of Genetic Variants on Protein Stability in Retinal Degenerative Disease

enthalten in: Advances in experimental medicine and biology | 2023

von Grunin, M. | Palmer, E. | de Jong, S. | +7

3

Age-related macular degeneration : A disease of extracellular complement amplification

enthalten in: Immunological reviews | 2023

von de Jong, S. | Tang, J. | Clark, S.

4

Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene

enthalten in: Stem cell research | 2022

von de Jong, S. | Koolen, L. | Vázquez-Domínguez, I. | +6

5

Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene

enthalten in: Stem cell research | 2022

von de Jong, S. | Koolen, L. | Vázquez-Domínguez, I. | +6

6

Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene

enthalten in: Human molecular genetics | 2022

von de Jong, S. | de Breuk, A. | Volokhina, E. | +8

7

Development of a Genotype Assay for Age-Related Macular Degeneration : The EYE-RISK Consortium

enthalten in: Ophthalmology | 2021

von de Breuk, A. | Acar, I. | Kersten, E. | +62

CommentIn: Ophthalmology. 2021 Nov;128(11):1618-1619. - PMID 34688431

8

Implications of genetic variation in the complement system in age-related macular degeneration

enthalten in: Progress in retinal and eye research | 2021

von de Jong, S. | Gagliardi, G. | Garanto, A. | +6

9

Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome

enthalten in: Frontiers in immunology | 2021

von de Jong, S. | de Breuk, A. | Bakker, B. | +7

10

Effect of rare coding variants in the CFI gene on Factor I expression levels

enthalten in: Human molecular genetics | 2020

von de Jong, S. | Volokhina, E. | de Breuk, A. | +8