Associated Papers
Abstracts of the 14th C1-inhibitor Deficiency and Angioedema Workshop.
Unknown Author
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2026
Population-scale Analysis Reveals Germline Loss of SERPING1 (C1-Inhibitor) is a Polyphenotypic Thrombotic Disorder.
Rodriguez Espada A et al.
Blood Advances, 2025
Preimplantation genetic testing for hereditary angioedema as a potential dominant cost-effective intervention.
Roosens W et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema.
Iuraşcu MI et al.
Clinical and Translational Allergy, 2023
Altered Urinary Metabolomics in Hereditary Angioedema.
Wang X et al.
Metabolites, 2022
Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.
Wang X et al.
Hereditas, 2022
Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations).
Nabilou S et al.
Immunological Investigations, 2022
Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.
Szabó E et al.
Frontiers in Allergy, 2022
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.
Drouet C et al.
Frontiers in Allergy, 2022
Clinical and genetic features of hereditary angioedema with and without C1-inhibitor (C1-INH) deficiency in Japan.
Hashimura C et al.
Allergy, 2021
In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency.
Loli-Ausejo D et al.
Clinical Reviews in Allergy & Immunology, 2021
Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes.
Bork K et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020
Bork K et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020
Genotype-phenotype correlations in Brazilian patients with hereditary angioedema due to C1 inhibitor deficiency.
Maia LSM et al.
Allergy, 2019
SERPING1 mutation in a rare hereditary angioedema with skin blisters.
Serpa FS et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 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
Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype.
Grivčeva-Panovska V et al.
Annals of Medicine, 2018
Urticaria as a Presenting Prodromal Manifestation of Attacks of Hereditary Angioedema.
Martin L et al.
Acta Dermato-venereologica, 2016
New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.
Cagini N et al.
Biological Chemistry, 2016
Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association.
Andrejević S et al.
Plos One, 2015
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.
Bafunno V et al.
Annals of Human Genetics, 2014
Presence of C1-inhibitor polymers in a subset of patients suffering from hereditary angioedema.
Madsen DE et al.
Plos One, 2014
Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema.
Martinho A et al.
Molecular Immunology, 2013
Novel and recurrent C1 inhibitor gene mutations in nine Japanese patients with hereditary angioedema.
Iwamoto K et al.
Journal of Dermatological Science, 2012
Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.
Bygum A et al.
Allergy, 2011
Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates.
Pappalardo E et al.
Molecular Immunology, 2008
Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.
Gösswein T et al.
Cytogenetic and Genome Research, 2008
Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.
Roche O et al.
Human Mutation, 2005