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Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.1-289, Article 289

2020

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Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene

Orphanet journal of rare diseases, 2020-02, Vol.15 (1), p.52-52, Article 52

2020

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Hereditary angioedema caused by missense mutations in the factor XII gene: Clinical features, trigger factors, and therapy

Journal of allergy and clinical immunology, 2009-07, Vol.124 (1), p.129-134

2009

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Mutant plasminogen in hereditary angioedema is bypassing FXII/kallikrein to generate bradykinin

Frontiers in physiology, 2023-01, Vol.13, p.1090732-1090732

2023

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

The American journal of medicine, 2013-12, Vol.126 (12), p.1142.e9-1142.e14

2013

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Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N‐terminal cleavage site of bradykinin

Allergy (Copenhagen), 2019-12, Vol.74 (12), p.2479-2481

2019

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Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation

Journal of allergy and clinical immunology, 2021-10, Vol.148 (4), p.1041-1048

2021

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Twenty two novel mutations of the factor VII gene in factor VII deficiency

Human mutation, 2000-06, Vol.15 (6), p.489-496

2000

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Treatment of Hereditary Angioedema with the Mutation c.988A>G (p.K330E) in the Plasminogen Gene

Journal of allergy and clinical immunology, 2020-02, Vol.145 (2), p.AB250

2020

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

Clinical immunology (Orlando, Fla.), 2011-10, Vol.141 (1), p.31-35

2011

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Hereditäres Angioödem in einer Familie mit spezifischen Mutationen sowohl im Plasminogen‐ als auch im SERPING1‐Gen

Journal der Deutschen Dermatologischen Gesellschaft, 2020-03, Vol.18 (3), p.215-224

2020

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Treatment of patients with hereditary angioedema with the c.988AG variant in the plasminogen gene

Orphanet journal of rare diseases, 2020-02, Vol.15 (1)

2020

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Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Journal der Deutschen Dermatologischen Gesellschaft, 2020-03, Vol.18 (3), p.215-224

2020

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Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2023-08, Vol.11 (8), p.2441-2449

2023

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Inheritance Pattern of Hereditary Angioedema Indicates Mutation-Dependent Selective Effects During Early Embryonic Development

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2022-04, Vol.10 (4), p.1029-1037

2022

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Tamoxifen, a Trigger Factor of Hereditary Angioedema with Normal C1-INH with a Specific Mutation in the F12 Gene (HAE-FXII)

Journal of allergy and clinical immunology, 2016-02, Vol.137 (2), p.AB254-AB254

2016

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Severe Tongue Swellings In Hereditary Angioedema With A Specific Mutation In The Plasminogen Gene

Journal of allergy and clinical immunology, 2018-02, Vol.141 (2), p.AB44-AB44

2018

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Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly

Thrombosis and haemostasis, 2007-04, Vol.97 (4), p.542

2007

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Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes

Journal der Deutschen Dermatologischen Gesellschaft, 2020-03, Vol.18 (3), p.215-223

2020

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Hereditary Angioedema with Normal C1-INH with Versus without a Specific Mutation in the F12 Gene

Journal of allergy and clinical immunology, 2015-02, Vol.135 (2), p.AB198-AB198

2015

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Common polymorphisms and cardiovascular factors in patients with myocardial infarction of Costa Rica

Revista de biología tropical, 2006-03, Vol.54 (1), p.1-11

2006

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Team and Progress

Single Session One at a Time Counselling with Couples, 2023, p.106-111

1, 2023

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Clinical phenotypes and factor VII genotype in congenital factor VII deficiency

Thrombosis and haemostasis, 2005-03, Vol.93 (3), p.481

2005

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Characterization of a Novel Aberrant Splice Site, 79bp Downstream of Exon 5 in the Human Factor 7 Gene Detected in Patients with Severe Congenital Factor VII Deficiency

Blood, 2009-11, Vol.114 (22), p.3481-3481

2009

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Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica

Revista de biología tropical, 2004-09, Vol.52 (3), p.521-530

2004

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Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene

Hereditary angioedema caused by missense mutations in the factor XII gene: Clinical features, trigger factors, and therapy

Mutant plasminogen in hereditary angioedema is bypassing FXII/kallikrein to generate bradykinin

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

Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N‐terminal cleavage site of bradykinin

Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation

Twenty two novel mutations of the factor VII gene in factor VII deficiency

Treatment of Hereditary Angioedema with the Mutation c.988A>G (p.K330E) in the Plasminogen Gene

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

Hereditäres Angioödem in einer Familie mit spezifischen Mutationen sowohl im Plasminogen‐ als auch im SERPING1‐Gen

Treatment of patients with hereditary angioedema with the c.988AG variant in the plasminogen gene

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor

Inheritance Pattern of Hereditary Angioedema Indicates Mutation-Dependent Selective Effects During Early Embryonic Development

Tamoxifen, a Trigger Factor of Hereditary Angioedema with Normal C1-INH with a Specific Mutation in the F12 Gene (HAE-FXII)

Severe Tongue Swellings In Hereditary Angioedema With A Specific Mutation In The Plasminogen Gene

Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes

Hereditary Angioedema with Normal C1-INH with Versus without a Specific Mutation in the F12 Gene

Common polymorphisms and cardiovascular factors in patients with myocardial infarction of Costa Rica

Team and Progress

Clinical phenotypes and factor VII genotype in congenital factor VII deficiency

Characterization of a Novel Aberrant Splice Site, 79bp Downstream of Exon 5 in the Human Factor 7 Gene Detected in Patients with Severe Congenital Factor VII Deficiency

Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica

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