Associated Papers
Population-scale Analysis Reveals Germline Loss of SERPING1 (C1-Inhibitor) is a Polyphenotypic Thrombotic Disorder.
Rodriguez Espada A et al.
Blood Advances, 2025
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Pantea CL et al.
Scientific Reports, 2025
Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema.
Jiang L et al.
Orphanet Journal of Rare Diseases, 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
National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia.
Kanepa A et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and 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
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 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
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D et al.
Human Mutation, 2020
Genetic variants of SERPING1 gene in Polish patients with hereditary angioedema due to C1 inhibitor deficiency.
Obtulowicz K et al.
Central-european Journal of Immunology, 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
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
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
The role of the complement system in hereditary angioedema.
Csuka D et al.
Molecular Immunology, 2017
Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.
Grodecká L et al.
Clinical Immunology (orlando, Fla.), 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.
Cagini N et al.
Biological Chemistry, 2016
Hereditary angioedema: molecular and clinical differences among European populations.
Speletas M et al.
The Journal of Allergy and Clinical Immunology, 2015
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.
Johnsrud I et al.
Plos One, 2015
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 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
Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.
Xu YY et al.
Allergy, 2012
Analysis of SERPING1 expression on hereditary angioedema patients: quantitative analysis of full-length and exon 3 splicing variants.
de la Cruz RM et al.
Immunology Letters, 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
The Turkish Hereditary Angioedema Pilot Study (TURHAPS): the first Turkish series of hereditary angioedema.
Kesim B et al.
International Archives of Allergy and Immunology, 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