Genetics of Hereditary Angioedema Revisited

C1 inhibitor function using contact-phase proteases as target: evaluation of an innovative assay

(2015) A. Ghannam et al.   ALLERGY

F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema

(2015) M. Speletas et al.   ALLERGY

Idiopathic angioedema with F12 mutation: is it a new entity?

(2015) Aslı Gelincik et al.   ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY

The autoimmune side of hereditary angioedema: insights on the pathogenesis

(2015) Paola Triggianese et al.   AUTOIMMUNITY REVIEWS

Distinct Conditions Support a Novel Classification for Bradykinin-Mediated Angio-Oedema

(2015) Panteha Dessart et al.   DERMATOLOGY

Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor

(2015) Adriana S. Moreno et al.   INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY

Hereditary angioedema: Molecular and clinical differences among European populations

(2015) Matthaios Speletas et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

US precision-medicine proposal sparks questions

(2015) Sara Reardon   NATURE

Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association

(2015) Slađana Andrejević et al.   PLoS One

Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group

(2014) M. Cicardi et al.   ALLERGY

Mutational Spectrum of the C1 Inhibitor Gene in a Cohort of Italian Patients with Hereditary Angioedema: Description of Nine Novel Mutations

(2014) Valeria Bafunno et al.   ANNALS OF HUMAN GENETICS

Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angioedema and normal C1 inhibitor

(2014) K. Bork et al.   HAEMOPHILIA

Diagnosis and Treatment of Bradykinin-Mediated Angioedema: Outcomes from an Angioedema Expert Consensus Meeting

(2014) Timothy J. Craig et al.   INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY

A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema

(2014) Roger Colobran et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Presence of C1-Inhibitor Polymers in a Subset of Patients Suffering from Hereditary Angioedema

(2014) Daniel Elenius Madsen et al.   PLoS One

Antihistamine-resistant Angioedema in Women with Negative Family History: Estrogens and F12 Gene Mutations

(2013) Konrad Bork et al.   AMERICAN JOURNAL OF MEDICINE

Novel duplication in the F12 gene in a patient with recurrent angioedema

(2013) Nóra Kiss et al.   CLINICAL IMMUNOLOGY

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema

(2013) Valeria Bafunno et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Association of B2Receptor Polymorphisms and ACE Activity With ACE Inhibitor-Induced Angioedema in Black and Mixed-Race South Africans

(2013) Retsilisitsoe R. Moholisa et al.   Journal of Clinical Hypertension

Genetic variants associated with angiotensin-converting enzyme inhibitor-associated angioedema

(2013) Guillaume Pare et al.   Pharmacogenetics and Genomics

Hereditary Angioedema with Normal C1-INH (HAE Type III)

(2013) Marc A. Riedl   Journal of Allergy and Clinical Immunology-In Practice

Angio-oedema due to hereditary C1 inhibitor deficiency in children

(2012) T. Caballero   ALLERGOLOGIA ET IMMUNOPATHOLOGIA

Mutational spectrum and geno-phenotype correlation in Chinese families with Hereditary Angioedema

(2012) Y.-Y. Xu et al.   ALLERGY

Hereditary angioedema with normal C1 inhibitor function: Consensus of an international expert panel

(2012) Bruce L. Zuraw et al.   ALLERGY AND ASTHMA PROCEEDINGS

Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations

(2012) Andras Bors et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hereditary angio-oedema

(2012) Hilary Longhurst et al.   LANCET

Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema

(2012) A. Martinho et al.   MOLECULAR IMMUNOLOGY

A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor

(2011) Konrad Bork et al.   CLINICAL IMMUNOLOGY

A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema

(2011) Amy L. Cilia La Corte et al.   HUMAN MUTATION

Association between the SERPING1 Gene and Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in Japanese

(2011) Isao Nakata et al.   PLoS One

No Evidence for Linkage between the Hereditary Angiooedema Clinical Phenotype and the BDKR1, BDKR2, ACE or MBL2 gene

(2011) T. Freiberger et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Evidence of impaired sense of smell in hereditary angioedema

(2010) C. Perricone et al.   ALLERGY

Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency

(2010) A. Bygum et al.   ALLERGY

Hereditary angioedema: a current state-of-the-art review, III: mechanisms of hereditary angioedema

(2010) Alvin E. Davis   ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY

BRADYKININ RECEPTOR 2 ANTAGONIST (ICATIBANT) FOR HEREDITARY ANGIOEDEMA TYPE III ATTACKS

(2010) Laurence Bouillet et al.   ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY

A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation

(2010) Alberto López-Lera et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Sex-dependent and race-dependent association of XPNPEP2 C-2399A polymorphism with angiotensin-converting enzyme inhibitor-associated angioedema

(2010) Alencia V. Woodard-Grice et al.   Pharmacogenetics and Genomics

Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema

(2010) Rosa Bautista-Llácer et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Kallikrein–kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys

(2009) Konrad Bork et al.   BLOOD COAGULATION & FIBRINOLYSIS

Hereditary angioedema in Greek families caused by novel and recurrent mutations

(2009) Matthaios Speletas et al.   HUMAN IMMUNOLOGY

SERPING1 rs2511988 and age-related macular degeneration

(2009) Jana Kralovicova et al.   LANCET

C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress

(2009) Massimo Cugno et al.   TRENDS IN MOLECULAR MEDICINE

Bradykinin Type 2 Receptor BE1 Genotype Influences Bradykinin-Dependent Vasodilation During Angiotensin-Converting Enzyme Inhibition

(2008) Gary P. Van Guilder et al.   HYPERTENSION

The molecular aetiology of the serpinopathies

(2008) M DAVIES et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Association between the SERPING1 gene and age-related macular degeneration: a two-stage case–control study

(2008) Sarah Ennis et al.   LANCET

Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: Functional and structural correlates

(2008) Emanuela Pappalardo et al.   MOLECULAR IMMUNOLOGY

Hereditary Angioedema

(2008) Bruce L. Zuraw   NEW ENGLAND JOURNAL OF MEDICINE

Major carboxypeptidase N deficiency

(2007) Johan L. Willemse et al.   CLINICA CHIMICA ACTA