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Journal Abstract Search

255 related items for 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
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  • 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 15; 667():76-82. PubMed ID: 29753808
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  • 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 15; 50(3):269-276. PubMed ID: 29513108
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  • 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 15; 919():148496. PubMed ID: 38679185
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  • 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 15; 229(2):152790. PubMed ID: 38340462
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  • 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 15; 685():179-185. PubMed ID: 30389558
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  • 12. Definition and classification of hereditary angioedema.
    Proper SP, Lavery WJ, Bernstein JA.
    Allergy Asthma Proc; 2020 Nov 01; 41(Suppl 1):S03-S07. PubMed ID: 33109317
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  • 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 Nov 01; 178(1):50-59. PubMed ID: 30278448
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  • 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 01; 151(4):1040-1049.e5. PubMed ID: 36587848
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  • 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 Apr 01; 10(11):e0142174. PubMed ID: 26535898
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  • 20. Genetics of Hereditary Angioedema Revisited.
    Germenis AE, Speletas M.
    Clin Rev Allergy Immunol; 2016 Oct 01; 51(2):170-82. PubMed ID: 27116602
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