Suchergebnisse - "Kavanagh, David"

PubPharm (41)

1

Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank

enthalten in: Human molecular genetics | 2022

von Tzoumas, N. | Kavanagh, D. | Cordell, H. | +3

2

Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing

enthalten in: The Journal of molecular diagnostics : JMD | 2022

von Tschernoster, N. | Erger, F. | Walsh, P. | +13

3

A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration

enthalten in: Frontiers in immunology | 2022

von Hallam, T. | Cox, T. | Smith-Jackson, K. | +10

4

C3 Glomerulopathy and Related Disorders in Children : Etiology-Phenotype Correlation and Outcomes

enthalten in: Clinical journal of the American Society of Nephrology : CJASN | 2021

von Wong, E. | Marchbank, K. | Lomax-Browne, H. | +62

5

Revisiting the role of factor H in age-related macular degeneration : Insights from complement-mediated renal disease and rare genetic variants

enthalten in: Survey of ophthalmology | 2021

von Tzoumas, N. | Hallam, D. | Harris, C. | +3

6

Homodimeric Minimal Factor H : In Vivo Tracking and Extended Dosing Studies in Factor H Deficient Mice

enthalten in: Frontiers in immunology | 2021

von Kamala, O. | Malik, T. | Hallam, T. | +13

7

Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration

enthalten in: Investigative ophthalmology & visual science | 2020

von Hallam, T. | Marchbank, K. | Harris, C. | +6

8

Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD

enthalten in: Frontiers in immunology | 2020

von Wong, E. | Hallam, T. | Brocklebank, V. | +9

9

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy

enthalten in: Journal of immunology (Baltimore, Md. : 1950) | 2018

von Osborne, A. | Breno, M. | Borsa, N. | +17

10

Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland

enthalten in: Kidney international | 2017

von Brocklebank, V. | Johnson, S. | Sheerin, T. | +21

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