249 related articles for article (PubMed ID: 31959500)
1. A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency.
Vatsiou S; Zamanakou M; Loules G; Psarros F; Parsopoulou F; Csuka D; Valerieva A; Staevska M; Porebski G; Obtulowicz K; Magerl M; Maurer M; Speletas M; Farkas H; Germenis AE
Allergol Int; 2020 Jul; 69(3):443-449. PubMed ID: 31959500
[TBL] [Abstract][Full Text] [Related]
2. Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
Loules G; Zamanakou M; Parsopoulou F; Vatsiou S; Psarros F; Csuka D; Porebski G; Obtulowicz K; Valerieva A; Staevska M; López-Lera A; López-Trascasa M; Moldovan D; Magerl M; Maurer M; Speletas M; Farkas H; Germenis AE
Gene; 2018 Aug; 667():76-82. PubMed ID: 29753808
[TBL] [Abstract][Full Text] [Related]
3. Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype.
Grivčeva-Panovska V; Košnik M; Korošec P; Andrejević S; Karadža-Lapić L; Rijavec M
Ann Med; 2018 May; 50(3):269-276. PubMed ID: 29513108
[TBL] [Abstract][Full Text] [Related]
4. The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.
Rupar N; Šelb J; Košnik M; Zidarn M; Andrejević S; Čulav L; Grivčeva-Panovska V; Korošec P; Rijavec M
Gene; 2024 Aug; 919():148496. PubMed ID: 38679185
[TBL] [Abstract][Full Text] [Related]
5. Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.
Szabó E; Csuka D; Andrási N; Varga L; Farkas H; Szilágyi Á
Front Allergy; 2022; 3():836465. PubMed ID: 35386643
[TBL] [Abstract][Full Text] [Related]
6. SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D; Gaboriaud C; Charignon D; Ghannam A; Wagenaar-Bos IGA; Roem D; López-Lera A; López-Trascasa M; Tosi M; Drouet C
Hum Mutat; 2020 Jan; 41(1):38-57. PubMed ID: 31517426
[TBL] [Abstract][Full Text] [Related]
7. A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.
Johnsrud I; Kulseth MA; Rødningen OK; Landrø L; Helsing P; Waage Nielsen E; Heimdal K
PLoS One; 2015; 10(7):e0131637. PubMed ID: 26154504
[TBL] [Abstract][Full Text] [Related]
8. Transmission patterns of C1-INH deficiency hereditary angioedema favors a wild-type male offspring: Our experience at Chandigarh, India.
Machhua S; Kumar Jindal A; Basu S; Jangra I; Barman P; Tyagi R; Sil A; Tyagi R; Kaur A; Chawla S; Kumaran SM; Dogra S; Dhaliwal M; Sharma S; Rawat A; Singh S
Immunobiology; 2024 Mar; 229(2):152790. PubMed ID: 38340462
[TBL] [Abstract][Full Text] [Related]
9. Frequent life-threatening laryngeal attacks in two Croatian families with hereditary angioedema due to C1 inhibitor deficiency harbouring a novel frameshift mutation in SERPING1.
Karadža-Lapić L; Korošec P; Šilar M; Košnik M; Cikojević D; Lozić B; Rijavec M
Ann Med; 2016 Nov; 48(7):485-491. PubMed ID: 27187751
[TBL] [Abstract][Full Text] [Related]
10. Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families.
Nicolicht P; Faria DOS; Martins-Silva L; Maia LSM; Moreno AS; Arruda LK; Motta AA; Grumach AS; Pesquero JB
Gene; 2019 Feb; 685():179-185. PubMed ID: 30389558
[TBL] [Abstract][Full Text] [Related]
11. Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
Grombirikova H; Bily V; Soucek P; Kramarek M; Hakl R; Ballonova L; Ravcukova B; Ricna D; Kozena K; Kratochvilova L; Sobotkova M; Zachova R; Kuklinek P; Kralickova P; Krcmova I; Hanzlikova J; Vachova M; Krystufkova O; Dankova E; Jesenak M; Novackova M; Svoboda M; Litzman J; Freiberger T
J Clin Immunol; 2023 Nov; 43(8):1974-1991. PubMed ID: 37620742
[TBL] [Abstract][Full Text] [Related]
12. Definition and classification of hereditary angioedema.
Proper SP; Lavery WJ; Bernstein JA
Allergy Asthma Proc; 2020 Nov; 41(Suppl 1):S03-S07. PubMed ID: 33109317
[TBL] [Abstract][Full Text] [Related]
13. Deletions in SERPING1 Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity.
Mete Gökmen N; Gülbahar O; Onay H; Peker Koc Z; Özgül S; Köse T; Gelincik A; Büyüköztürk S; Sin AZ
Int Arch Allergy Immunol; 2019; 178(1):50-59. PubMed ID: 30278448
[TBL] [Abstract][Full Text] [Related]
14. Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.
Sinnathamby ES; Issa PP; Roberts L; Norwood H; Malone K; Vemulapalli H; Ahmadzadeh S; Cornett EM; Shekoohi S; Kaye AD
Adv Ther; 2023 Mar; 40(3):814-827. PubMed ID: 36609679
[TBL] [Abstract][Full Text] [Related]
15. Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?
Germenis AE; Vatsiou S; Csuka D; Zamanakou M; Farkas H
J Clin Immunol; 2021 Jan; 41(1):248-250. PubMed ID: 33034800
[No Abstract] [Full Text] [Related]
16. Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses.
Ren Z; Zhao S; Li T; Wedner HJ; Atkinson JP
J Allergy Clin Immunol; 2023 Apr; 151(4):1040-1049.e5. PubMed ID: 36587848
[TBL] [Abstract][Full Text] [Related]
17. Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association.
Andrejević S; Korošec P; Šilar M; Košnik M; Mijanović R; Bonači-Nikolić B; Rijavec M
PLoS One; 2015; 10(11):e0142174. PubMed ID: 26535898
[TBL] [Abstract][Full Text] [Related]
18. First Analysis of SERPING1 Gene in Patients with Hereditary Angioedema in Colombia Reveals Two Genotypic Variants in a Highly Symptomatic Individual.
Rodríguez JA; Narváez CF
J Clin Immunol; 2018 Apr; 38(3):294-299. PubMed ID: 29623547
[TBL] [Abstract][Full Text] [Related]
19. Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene.
Sharma J; Jindal AK; Banday AZ; Kaur A; Rawat A; Singh S; Longhurst H
Clin Rev Allergy Immunol; 2021 Jun; 60(3):305-315. PubMed ID: 33442779
[TBL] [Abstract][Full Text] [Related]
20. Genetics of Hereditary Angioedema Revisited.
Germenis AE; Speletas M
Clin Rev Allergy Immunol; 2016 Oct; 51(2):170-82. PubMed ID: 27116602
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
