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2. Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 gene. Rijavec M; Korošec P; Šilar M; Zidarn M; Miljković J; Košnik M PLoS One; 2013; 8(2):e56712. PubMed ID: 23437219 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. Hereditary angioedema in a Jordanian family with a novel missense mutation in the C1-inhibitor N-terminal domain. Jaradat SA; Caccia S; Rawashdeh R; Melhem M; Al-Hawamdeh A; Carzaniga T; Haddad H Mol Immunol; 2016 Mar; 71():123-130. PubMed ID: 26895475 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Analysis of SERPING1 expression on hereditary angioedema patients: quantitative analysis of full-length and exon 3 splicing variants. de la Cruz RM; López-Lera A; López-Trascasa M Immunol Lett; 2012 Jan; 141(2):158-64. PubMed ID: 22001489 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations). Nabilou S; Pak F; Alizadeh Z; Fazlollahi MR; Houshmand M; Ayazi M; Mohammadzadeh I; Bemanian MH; Fayezi A; Nabavi M; Saghafi S; Mohammadian S; Kokhaei P; Moin M; Pourpak Z Immunol Invest; 2022 Jan; 51(1):170-181. PubMed ID: 32896191 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema. Colobran R; Lois S; de la Cruz X; Pujol-Borrell R; Hernández-González M; Guilarte M Clin Immunol; 2014 Feb; 150(2):143-8. PubMed ID: 24412907 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Evidence for a dominant-negative effect of a missense mutation in the SERPING1 gene responsible for hereditary angioedema type I. Yasuno S; Ansai O; Hayashi R; Nakamura S; Shimomura Y J Dermatol; 2021 Aug; 48(8):1243-1249. PubMed ID: 33914953 [TBL] [Abstract][Full Text] [Related]
15. Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates. Pappalardo E; Caccia S; Suffritti C; Tordai A; Zingale LC; Cicardi M Mol Immunol; 2008 Aug; 45(13):3536-44. PubMed ID: 18586324 [TBL] [Abstract][Full Text] [Related]
16. 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. Colobran R; Pujol-Borrell R; Hernández-González M; Guilarte M J Clin Immunol; 2014 Jul; 34(5):521-3. PubMed ID: 24760113 [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. 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]
19. 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]
20. Association of hereditary angioedema type 1 with developmental anomalies due to a large and unusual de novo pericentromeric rearrangement of chromosome 11 spanning the entire C1 inhibitor gene (SERPING1). Ebo DG; Blaumeiser B; Kooy FR; Beckers S; Van Gasse AL; Saerens M; Spinhoven M; Sabato V; Poirel HA J Allergy Clin Immunol Pract; 2019 Apr; 7(4):1352-1354.e3. PubMed ID: 30336291 [No Abstract] [Full Text] [Related] [Next] [New Search]