Associated Papers
Type II hereditary angioedema with an apparently de novo SERPING1 mutation in China: A case report and family screening.
Guan Z et al.
Medicine, 2026
Early diagnosis of hereditary angioedema in children: genetic testing should be prioritized.
Bocquet A et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2025
Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene.
Markocsy A et al.
The World Allergy Organization Journal, 2024
Clinical Evaluation of Pediatric Patients with Hereditary Angioedema.
Kırmızıtaş Aydoğdu A et al.
The Tohoku Journal of Experimental Medicine, 2024
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
Grombirikova H et al.
Journal of Clinical Immunology, 2023
Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses.
Ren Z et al.
The Journal of Allergy and Clinical Immunology, 2023
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.
Sheikh F et al.
Journal of Clinical Immunology, 2023
Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.
Ballonová L et al.
Frontiers in Genetics, 2023
Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.
Wang X et al.
Hereditas, 2022
Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene.
Guryanova I et al.
Clinical and Molecular Allergy : Cma, 2021
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D et al.
Human Mutation, 2020
Genotype-phenotype correlations in Brazilian patients with hereditary angioedema due to C1 inhibitor deficiency.
Maia LSM et al.
Allergy, 2019
Hereditary angioedema: a Chinese perspective.
Liu S et al.
European Journal of Dermatology : Ejd, 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
Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.
Steiner UC et al.
Clinical and Experimental Immunology, 2017
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: 44 years of diagnostic delay.
Peterson MP et al.
Dermatology Online Journal, 2016
Hereditary angioedema: molecular and clinical differences among European populations.
Speletas M et al.
The Journal of Allergy and Clinical Immunology, 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
Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 gene.
Rijavec M et al.
Plos One, 2013
Novel and recurrent C1 inhibitor gene mutations in nine Japanese patients with hereditary angioedema.
Iwamoto K et al.
Journal of Dermatological Science, 2012
SERPING1 mutations in 59 families with hereditary angioedema.
López-Lera A et al.
Molecular Immunology, 2011
Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.
Bygum A et al.
Allergy, 2011
Novel and recurrent mutations in the C1NH gene of Arab patients affected with hereditary angioedema.
Faiyaz-Ul-Haque M et al.
International Archives of Allergy and Immunology, 2010
[Hereditary angioedema--diagnostic problems].
Bach RO et al.
Ugeskrift for Laeger, 2009
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