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Journal Abstract Search

156 related items for PubMed ID: 38679185

  • 1. 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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  • 2. 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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  • 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 15; 69(3):443-449. PubMed ID: 31959500
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  • 6. 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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  • 7. 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 15; 60(3):305-315. PubMed ID: 33442779
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  • 10. Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families.
    Veronez CL, Moreno AS, Constantino-Silva RN, Maia LSM, Ferriani MPL, Castro FFM, Valle SR, Nakamura VK, Cagini N, Gonçalves RF, Mansour E, Serpa FS, Coelho Dias GA, Piccirillo MA, Toledo E, de Souza Bernardes M, Cichon S, Stieber C, Arruda LK, Pesquero JB, Grumach AS.
    J Allergy Clin Immunol Pract; 2018 Jun 15; 6(4):1209-1216.e8. PubMed ID: 29128335
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  • 14. Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes.
    Bork K, Zibat A, Ferrari DM, Wollnik B, Schön MP, Wulff K, Lippert U.
    J Dtsch Dermatol Ges; 2020 Mar 15; 18(3):215-223. PubMed ID: 32065705
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  • 16. 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 15; 71():123-130. PubMed ID: 26895475
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  • 18. 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 Mar 15; 3():836465. PubMed ID: 35386643
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  • 19. 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 15; 43(8):1974-1991. PubMed ID: 37620742
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  • 20. 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 15; 38(3):294-299. PubMed ID: 29623547
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