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The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiencyRupar, Nina ; Šelb, Julij ; Košnik, Mitja ; Zidarn, Mihaela ; Andrejević, Slađana ; Čulav, Ljerka ; Grivčeva‐Panovska, Vesna ; Korošec, Peter ; Rijavec, MatijaGene, 2024-08, Vol.919, p.148496-148496, Article 148496 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Coagulation factor XII in thrombosis and inflammationMaas, Coen ; Renné, ThomasBlood, 2018-04, Vol.131 (17), p.1903-1909 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A myoferlin gain‐of‐function variant associates with a new type of hereditary angioedemaAriano, Anastasia ; D'Apolito, Maria ; Bova, Maria ; Bellanti, Francesco ; Loffredo, Stefania ; D'Andrea, Giovanna ; Intrieri, Mariano ; Petraroli, Angelica ; Maffione, Angela Bruna ; Spadaro, Giuseppe ; Santacroce, Rosa ; Margaglione, MaurizioAllergy (Copenhagen), 2020-11, Vol.75 (11), p.2989-2992 [Periódico revisado por pares]Denmark: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Hereditary angioedema with a mutation in the plasminogen geneBork, K. ; Wulff, K. ; Steinmüller‐Magin, L. ; Brænne, I. ; Staubach‐Renz, P. ; Witzke, G. ; Hardt, J.Allergy (Copenhagen), 2018-02, Vol.73 (2), p.442-450 [Periódico revisado por pares]Denmark: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Evidence for a dominant‐negative effect of a missense mutation in the SERPING1 gene responsible for hereditary angioedema type IYasuno, Shuichiro ; Ansai, Osamu ; Hayashi, Ryota ; Nakamura, Sawako ; Shimomura, YutakaJournal of dermatology, 2021-08, Vol.48 (8), p.1243-1249 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Summary and future of medicine for hereditary angioedemaDing, Lei ; Zhang, Meng-Jiao ; Rao, Guo-WuDrug discovery today, 2024-03, Vol.29 (3), p.103890-103890, Article 103890 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Hereditary angioedema with normal C1‐INH with versus without specific F12 gene mutationsBork, K. ; Wulff, K. ; Witzke, G. ; Hardt, J.Allergy (Copenhagen), 2015-08, Vol.70 (8), p.1004-1012 [Periódico revisado por pares]Denmark: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypesPonard, Denise ; Gaboriaud, Christine ; Charignon, Delphine ; Ghannam, Arije ; Wagenaar‐Bos, Ineke G. A. ; Roem, Dorina ; López‐Lera, Alberto ; López‐Trascasa, Margarita ; Tosi, Mario ; Drouet, ChristianHuman mutation, 2020-01, Vol.41 (1), p.38-57 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |
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Material Type: Artigo
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Consensus on treatment goals in hereditary angioedema: A global Delphi initiativeMaurer, Marcus ; Aygören-Pürsün, Emel ; Banerji, Aleena ; Bernstein, Jonathan A. ; Balle Boysen, Henrik ; Busse, Paula J. ; Bygum, Anette ; Caballero, Teresa ; Castaldo, Anthony J. ; Christiansen, Sandra C. ; Craig, Timothy ; Farkas, Henriette ; Grumach, Anete S. ; Hide, Michihiro ; Katelaris, Constance H. ; Li, H. Henry ; Longhurst, Hilary ; Lumry, William R. ; Magerl, Markus ; Martinez-Saguer, Inmaculada ; Riedl, Marc A. ; Zhi, Yuxiang ; Zuraw, BruceJournal of allergy and clinical immunology, 2021-12, Vol.148 (6), p.1526-1532 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analysesRen, Zhen ; Zhao, Shuangxia ; Li, Tiandao ; Wedner, H. James ; Atkinson, John P.Journal of allergy and clinical immunology, 2023-04, Vol.151 (4), p.1040-1049.e5 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |