Associated Papers
Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.
Gaviria-Sabogal CC et al.
Human Molecular Genetics, 2025
Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.
Arias-Flórez JS et al.
Plos One, 2024
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D et al.
Human Mutation, 2020
Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema.
Haslund D et al.
The Journal of Clinical Investigation, 2019
Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema.
Veronez CL et al.
Frontiers in Medicine, 2019
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
Loules G et al.
Gene, 2018
Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema.
Aabom A et al.
Orphanet Journal of Rare Diseases, 2017
Hereditary angioedema: molecular and clinical differences among European populations.
Speletas M et al.
The Journal of Allergy and Clinical Immunology, 2015
Presence of C1-inhibitor polymers in a subset of patients suffering from hereditary angioedema.
Madsen DE et al.
Plos One, 2014
Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.
Bygum A et al.
Allergy, 2011
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