Literature DB >> 31334892

The functional promoter F12-46C/T variant predicts the asymptomatic phenotype of C1-INH-HAE.

Matija Rijavec1, Mitja Košnik1,2, Slađana Andrejević3, Ljerka Karadža-Lapić4, Vesna Grivčeva-Panovska5, Peter Korošec1.   

Abstract

Entities:  

Year:  2019        PMID： 31334892     DOI： 10.1111/cea.13470

Source DB:  PubMed          Journal:  Clin Exp Allergy        ISSN： 0954-7894            Impact factor:   5.018


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  7 in total

1.  The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.

Authors:  Fernando Corvillo; María Eugenia de la Morena-Barrio; Carmen Marcos-Bravo; Margarita López-Trascasa; Vicente Vicente; Jonas Emsley; Teresa Caballero; Javier Corral; Alberto López-Lera
Journal:  Front Genet       Date:  2020-09-10       Impact factor: 4.599

Review 2.  Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine.

Authors:  Anastasios E Germenis; Matija Rijavec; Camila Lopes Veronez
Journal:  Clin Rev Allergy Immunol       Date:  2021-01-28       Impact factor: 8.667

3.  In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency.

Authors:  David Loli-Ausejo; Alberto López-Lera; Christian Drouet; Marina Lluncor; Elsa Phillips-Anglés; María Pedrosa; Rosario Cabañas; Teresa Caballero
Journal:  Clin Rev Allergy Immunol       Date:  2021-01-19       Impact factor: 8.667

4.  Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).

Authors:  Faidra Parsopoulou; Gedeon Loules; Maria Zamanakou; Dorottya Csuka; Agnes Szilagyi; Maria Kompoti; Grzegorz Porebski; Fotis Psarros; Markus Magerl; Anna Valerieva; Maria Staevska; Krystyna Obtulowicz; Marcus Maurer; Matthaios Speletas; Henriette Farkas; Anastasios E Germenis
Journal:  Front Allergy       Date:  2022-07-07

Review 5.  SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.

Authors:  Christian Drouet; Alberto López-Lera; Arije Ghannam; Margarita López-Trascasa; Sven Cichon; Denise Ponard; Faidra Parsopoulou; Hana Grombirikova; Tomáš Freiberger; Matija Rijavec; Camila L Veronez; João Bosco Pesquero; Anastasios E Germenis
Journal:  Front Allergy       Date:  2022-03-31

6.  Rediscovery of a forgotten disease: Hereditary Angioedema.

Authors:  Okan Gülbahar; Anastasios E Germenis
Journal:  Balkan Med J       Date:  2021-03       Impact factor: 2.021

Review 7.  Biomarkers in Hereditary Angioedema.

Authors:  Grzegorz Porebski; Mateusz Kwitniewski; Avner Reshef
Journal:  Clin Rev Allergy Immunol       Date:  2021-02-09       Impact factor: 8.667
  7 in total

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