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PY - 2006 DA - 2006// TI - Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor JO - Biochem Biophys Res Commun VL - 343 UR - https://doi.org/10.1016/j.bbrc.2006.03.092 DO - 10.1016/j.bbrc.2006.03.092 ID - Dewald2006 ER - TY - JOUR AU - Bork, K. AU - Wulff, K. AU - Hardt, J. AU - Witzke, G. AU - Staubach, P. PY - 2009 DA - 2009// TI - Hereditary angioedema caused by missense mutations in the factor XII gene: clinical features, trigger factors, and therapy JO - J Allergy Clin Immunol VL - 124 UR - https://doi.org/10.1016/j.jaci.2009.03.038 DO - 10.1016/j.jaci.2009.03.038 ID - Bork2009 ER - TY - JOUR AU - Bafunno, V. AU - Firinu, D. AU - D’Apolito, M. AU - Cordisco, G. AU - Loffredo, S. AU - Leccese, A. PY - 2018 DA - 2018// TI - Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema JO - J Allergy Clin Immunol VL - 141 UR - https://doi.org/10.1016/j.jaci.2017.05.020 DO - 10.1016/j.jaci.2017.05.020 ID - Bafunno2018 ER - TY - JOUR AU - Bork, K. AU - Wulff, K. AU - Steinmuller-Magin, L. AU - Braenne, I. AU - Staubach-Renz, P. AU - Witzke, G. PY - 2018 DA - 2018// TI - Hereditary angioedema with a mutation in the plasminogen gene JO - Allergy VL - 73 UR - https://doi.org/10.1111/all.13270 DO - 10.1111/all.13270 ID - Bork2018 ER - TY - JOUR AU - Bork, K. AU - Wulff, K. AU - Rossmann, H. AU - Steinmuller-Magin, L. AU - Braenne, I. AU - Witzke, G. PY - 2019 DA - 2019// TI - Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin JO - Allergy VL - 74 UR - https://doi.org/10.1111/all.13869 DO - 10.1111/all.13869 ID - Bork2019 ER - TY - JOUR AU - Ariano, A. AU - D’Apolito, M. 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PY - 2007 DA - 2007// TI - Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene JO - J Allergy Clin Immunol VL - 120 UR - https://doi.org/10.1016/j.jaci.2007.07.002 DO - 10.1016/j.jaci.2007.07.002 ID - Martin2007 ER - TY - JOUR AU - Bouillet, L. AU - Ponard, D. AU - Rousset, H. AU - Cichon, S. AU - Drouet, C. PY - 2007 DA - 2007// TI - A case of hereditary angio-oedema type III presenting with C1-inhibitor cleavage and a missense mutation in the F12 gene JO - Br J Dermatol VL - 156 UR - https://doi.org/10.1111/j.1365-2133.2007.07778.x DO - 10.1111/j.1365-2133.2007.07778.x ID - Bouillet2007 ER - TY - JOUR AU - Bell, C. G. AU - Kwan, E. AU - Nolan, R. C. AU - Baumgart, K. W. PY - 2008 DA - 2008// TI - First molecular confirmation of an Australian case of type III hereditary angioedema JO - Pathology VL - 40 UR - https://doi.org/10.1080/00313020701716433 DO - 10.1080/00313020701716433 ID - Bell2008 ER - TY - JOUR AU - Duan, Q. L. AU - Binkley, K. AU - Rouleau, G. A. PY - 2009 DA - 2009// TI - Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema JO - J Allergy Clin Immunol VL - 123 UR - https://doi.org/10.1016/j.jaci.2008.12.010 DO - 10.1016/j.jaci.2008.12.010 ID - Duan2009 ER - TY - JOUR AU - Prieto, A. AU - Tornero, P. AU - Rubio, M. AU - Fernandez-Cruz, E. AU - Rodriguez-Sainz, C. PY - 2009 DA - 2009// TI - Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III JO - Allergy VL - 64 UR - https://doi.org/10.1111/j.1398-9995.2008.01764.x DO - 10.1111/j.1398-9995.2008.01764.x ID - Prieto2009 ER - TY - JOUR AU - Hentges, F. 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PY - 2010 DA - 2010// TI - Obstetrical complications and outcome in two families with hereditary angioedema due to mutation in the F12 gene JO - Obstet Gynecol Int VL - 2010 UR - https://doi.org/10.1155/2010/957507 DO - 10.1155/2010/957507 ID - Picone2010 ER - TY - JOUR AU - Baeza, M. L. AU - Rodriguez-Marco, A. AU - Prieto, A. AU - Rodriguez-Sainz, C. AU - Zubeldia, J. M. AU - Rubio, M. PY - 2011 DA - 2011// TI - Factor XII gene missense mutation Thr328Lys in an Arab family with hereditary angioedema type III JO - Allergy VL - 66 UR - https://doi.org/10.1111/j.1398-9995.2011.02562.x DO - 10.1111/j.1398-9995.2011.02562.x ID - Baeza2011 ER - TY - JOUR AU - Marcos, C. AU - Lopez Lera, A. AU - Varela, S. AU - Linares, T. AU - Alvarez-Eire, M. G. AU - Lopez-Trascasa, M. PY - 2012 DA - 2012// TI - Clinical, biochemical, and genetic characterization of type III hereditary angioedema in 13 Northwest Spanish families JO - Ann Allergy Asthma Immunol VL - 109 UR - https://doi.org/10.1016/j.anai.2012.05.022 DO - 10.1016/j.anai.2012.05.022 ID - Marcos2012 ER - TY - JOUR AU - Gomez-Traseira, C. AU - Lopez Lera, A. AU - Drouet, C. AU - Lopez-Trascasa, M. AU - Perez-Fernandez, E. AU - Favier, B. PY - 2013 DA - 2013// TI - Hereditary angioedema caused by the p.Thr309Lys mutation in the F12 gene: a multifactorial disease JO - J Allergy Clin Immunol. VL - 132 UR - https://doi.org/10.1016/j.jaci.2013.04.032 DO - 10.1016/j.jaci.2013.04.032 ID - Gomez-Traseira2013 ER - TY - JOUR AU - Charignon, D. AU - Ghannam, A. AU - Defendi, F. AU - Ponard, D. AU - Monnier, N. AU - Lopez-Trascasa, M. AU - Launay, D. PY - 2014 DA - 2014// TI - Hereditary angioedema with F12 mutation: factors modifying the clinical phenotype JO - Allergy VL - 69 UR - https://doi.org/10.1111/all.12515 DO - 10.1111/all.12515 ID - Charignon2014 ER - TY - JOUR AU - Moreno, A. S. AU - Valle, S. O. AU - Levy, S. AU - Franca, A. T. AU - Serpa, F. S. AU - Arcuri, H. A. PY - 2015 DA - 2015// TI - Coagulation factor XII gene mutation in brazilian families with hereditary angioedema with normal C1 inhibitor JO - Int Arch Allergy Immunol VL - 166 UR - https://doi.org/10.1159/000376547 DO - 10.1159/000376547 ID - Moreno2015 ER - TY - JOUR AU - Mansi, M. AU - Zanichelli, A. AU - Coerezza, A. AU - Suffritti, C. AU - Wu, M. A. AU - Vacchini, R. PY - 2015 DA - 2015// TI - Presentation, diagnosis and treatment of angioedema without wheals: a retrospective analysis of a cohort of 1058 patients JO - J Intern Med VL - 277 UR - https://doi.org/10.1111/joim.12304 DO - 10.1111/joim.12304 ID - Mansi2015 ER - TY - JOUR AU - Stieber, C. 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PY - 2016 DA - 2016// TI - Hereditary angioedema with normal C1 inhibitor and factor XII mutation: a series of 57 patients from the French National Center of Reference for Angioedema JO - Clin Exp Immunol VL - 185 UR - https://doi.org/10.1111/cei.12820 DO - 10.1111/cei.12820 ID - Deroux2016 ER - TY - JOUR AU - Grumach, A. S. AU - Stieber, C. AU - Veronez, C. L. AU - Cagini, N. AU - Constantino-Silva, R. N. AU - Cordeiro, E. PY - 2016 DA - 2016// TI - Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema JO - Allergy VL - 71 UR - https://doi.org/10.1111/all.12769 DO - 10.1111/all.12769 ID - Grumach2016 ER - TY - JOUR AU - Piñero-Saavedra, M. AU - Gonzalez-Quevedo, T. AU - Saenz de San Pedro, B. AU - Alcaraz, C. AU - Bobadilla-Gonzalez, P. AU - Fernandez-Vieira, L. PY - 2016 DA - 2016// TI - Hereditary angioedema with F12 mutation: Clinical features and enzyme polymorphisms in 9 Southwestern Spanish families JO - Ann Allergy Asthma Immunol VL - 117 UR - https://doi.org/10.1016/j.anai.2016.09.001 DO - 10.1016/j.anai.2016.09.001 ID - Piñero-Saavedra2016 ER - TY - JOUR AU - Bork, K. AU - Wulff, K. AU - Witzke, G. AU - Hardt, J. PY - 2017 DA - 2017// TI - Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII) JO - Allergy VL - 72 UR - https://doi.org/10.1111/all.13076 DO - 10.1111/all.13076 ID - Bork2017 ER - TY - JOUR AU - Veronez, C. L. AU - Serpa, F. S. AU - Pesquero, J. B. PY - 2017 DA - 2017// TI - A rare mutation in the F12 gene in a patient with ACE inhibitor-induced angioedema JO - Ann Allergy Asthma Immunol VL - 118 UR - https://doi.org/10.1016/j.anai.2017.04.014 DO - 10.1016/j.anai.2017.04.014 ID - Veronez2017 ER - TY - JOUR AU - Veronez, C. L. AU - Moreno, A. S. AU - Constantino-Silva, R. 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PY - 2013 DA - 2013// TI - Antihistamine-resistant angioedema in women with negative family history: estrogens and F12 gene mutations JO - Am J Med VL - 126 UR - https://doi.org/10.1016/j.amjmed.2013.05.017 DO - 10.1016/j.amjmed.2013.05.017 ID - Bork2013 ER - TY - JOUR AU - Bork, K. AU - Wulff, K. AU - Hardt, J. AU - Witzke, G. AU - Lohse, P. PY - 2014 DA - 2014// TI - Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in 2 Turkish families with hereditary angioedema and normal C1 inhibitor JO - Haemophilia VL - 20 UR - https://doi.org/10.1111/hae.12519 DO - 10.1111/hae.12519 ID - Bork2014 ER - TY - JOUR AU - Firinu, D. AU - Bafunno, V. AU - Vecchione, G. AU - Barca, M. P. AU - Manconi, P. E. AU - Santacroce, R. PY - 2015 DA - 2015// TI - Characterization of patients with angioedema without wheals: the importance of F12 gene screening JO - Clin Immunol VL - 157 UR - https://doi.org/10.1016/j.clim.2015.02.013 DO - 10.1016/j.clim.2015.02.013 ID - Firinu2015 ER - TY - JOUR AU - Binkley, K. E. AU - Davis, A. E. PY - 2003 DA - 2003// TI - Estrogen-dependent inherited angioedema JO - Transfus Apher Sci VL - 29 UR - https://doi.org/10.1016/j.transci.2003.08.002 DO - 10.1016/j.transci.2003.08.002 ID - Binkley2003 ER - TY - JOUR AU - Bork, K. AU - Gul, D. AU - Hardt, J. AU - Dewald, G. PY - 2007 DA - 2007// TI - Hereditary angioedema with normal C1 inhibitor: clinical symptoms and course JO - Am J Med VL - 120 UR - https://doi.org/10.1016/j.amjmed.2007.08.021 DO - 10.1016/j.amjmed.2007.08.021 ID - Bork2007 ER - TY - JOUR AU - Zuraw, B. L. AU - Bork, K. AU - Binkley, K. E. AU - Banerji, A. AU - Christiansen, S. C. AU - Castaldo, A. PY - 2012 DA - 2012// TI - Hereditary angioedema with normal C1 inhibitor function: consensus of an international expert panel JO - Allergy Asthma Proc VL - 33 UR - https://doi.org/10.2500/aap.2012.33.3627 DO - 10.2500/aap.2012.33.3627 ID - Zuraw2012 ER - TY - JOUR AU - Bouillet, L. AU - Boccon-Gibod, I. AU - Gompel, A. AU - Floccard, B. AU - Martin, L. AU - Blanchard-Delaunay, C. PY - 2017 DA - 2017// TI - Hereditary angioedema with normal C1 inhibitor: clinical characteristics and treatment response with plasma-derived human C1 inhibitor concentrate (Berinert(I)) in a French cohort JO - Eur J Dermatol VL - 27 UR - https://doi.org/10.1684/ejd.2016.2948 DO - 10.1684/ejd.2016.2948 ID - Bouillet2017 ER - TY - JOUR AU - Bouillet, L. AU - Boccon-Gibod, I. AU - Ponard, D. AU - Drouet, C. AU - Cesbron, J. Y. AU - Dumestre-Perard, C. PY - 2009 DA - 2009// TI - Bradykinin receptor 2 antagonist (icatibant) for hereditary angioedema type III attacks JO - Ann Allergy Asthma Immunol VL - 103 UR - https://doi.org/10.1016/S1081-1206(10)60369-9 DO - 10.1016/S1081-1206(10)60369-9 ID - Bouillet2009 ER - TY - JOUR AU - Garcia, J. F. B. AU - Takejima, P. AU - Veronez, C. L. AU - Aun, M. V. AU - Motta, A. A. AU - Kalil, J. PY - 2018 DA - 2018// TI - Use of pdC1-INH concentrate for long-term prophylaxis during pregnancy in hereditary angioedema with normal C1-INH JO - J Allergy Clin Immunol Pract VL - 6 UR - https://doi.org/10.1016/j.jaip.2017.12.022 DO - 10.1016/j.jaip.2017.12.022 ID - Garcia2018 ER - TY - JOUR AU - Bodian, D. L. AU - Vilboux, T. AU - Hauser, N. S. PY - 2019 DA - 2019// TI - Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause JO - Allergy Asthma Clin Immunol VL - 15 UR - https://doi.org/10.1186/s13223-019-0346-1 DO - 10.1186/s13223-019-0346-1 ID - Bodian2019 ER - TY - JOUR AU - Recke, A. AU - Massalme, E. G. AU - Jappe, U. AU - Steinmuller-Magin, L. AU - Schmidt, J. AU - Hellenbroich, Y. PY - 2019 DA - 2019// TI - Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema JO - Clin Transl Allergy VL - 9 UR - https://doi.org/10.1186/s13601-019-0247-x DO - 10.1186/s13601-019-0247-x ID - Recke2019 ER - TY - JOUR AU - Bork, K. AU - Zibat, A. AU - Ferrari, D. M. AU - Wollnik, B. AU - Schon, M. P. AU - Wulff, K. PY - 2020 DA - 2020// TI - Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes JO - J Dtsch Dermatol Ges VL - 18 ID - Bork2020 ER - TY - JOUR AU - Bork, K. AU - Wulff, K. AU - Witzke, G. AU - Machnig, T. AU - Hardt, J. PY - 2020 DA - 2020// TI - Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene JO - Orphanet J Rare Dis VL - 15 UR - https://doi.org/10.1186/s13023-020-1334-8 DO - 10.1186/s13023-020-1334-8 ID - Bork2020 ER - TY - JOUR AU - Dewald, G. PY - 2018 DA - 2018// TI - A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary angioedema with normal C1 inhibitor JO - Biochem Biophys Res Commun VL - 498 UR - https://doi.org/10.1016/j.bbrc.2017.12.060 DO - 10.1016/j.bbrc.2017.12.060 ID - Dewald2018 ER - TY - JOUR AU - Germenis, A. E. AU - Loules, G. AU - Zamanakou, M. AU - Psarros, F. AU - Gonzalez-Quevedo, T. AU - Speletas, M. PY - 2018 DA - 2018// TI - On the pathogenicity of the plasminogen K330E mutation for hereditary angioedema JO - Allergy VL - 73 UR - https://doi.org/10.1111/all.13324 DO - 10.1111/all.13324 ID - Germenis2018 ER - TY - JOUR AU - Belbezier, A. AU - Hardy, G. AU - Marlu, R. AU - Defendi, F. AU - Dumestre-Perard, D. AU - Boccon-Gibod, I. PY - 2018 DA - 2018// TI - Plasminogen gene mutation with normal C1 inhibitor hereditary angioedema: three additional French families JO - Allergy VL - 73 UR - https://doi.org/10.1111/all.13543 DO - 10.1111/all.13543 ID - Belbezier2018 ER - TY - JOUR AU - Yakushiji, H. AU - Hashimura, C. AU - Fukuoka, K. AU - Kaji, A. AU - Miyahara, H. AU - Kaname, S. PY - 2018 DA - 2018// TI - A missense mutation of the plasminogen gene in hereditary angioedema with normal C1 inhibitor in Japan JO - Allergy VL - 73 UR - https://doi.org/10.1111/all.13550 DO - 10.1111/all.13550 ID - Yakushiji2018 ER - TY - JOUR AU - Maat, S. AU - Bjorkqvist, J. AU - Suffritti, C. AU - Wiesenekker, C. P. AU - Nagtegaal, W. AU - Koekman, A. PY - 2016 DA - 2016// TI - Plasmin is a natural trigger for bradykinin production in patients with hereditary angioedema with factor XII mutations JO - J Allergy Clin Immunol VL - 138 UR - https://doi.org/10.1016/j.jaci.2016.02.021 DO - 10.1016/j.jaci.2016.02.021 ID - Maat2016 ER - TY - JOUR AU - Ivanov, I. AU - Matafonov, A. AU - Sun, M. F. AU - Mohammed, B. M. AU - Cheng, Q. AU - Dickeson, S. K. PY - 2019 DA - 2019// TI - A mechanism for hereditary angioedema with normal C1 inhibitor: an inhibitory regulatory role for the factor XII heavy chain JO - Blood VL - 133 UR - https://doi.org/10.1182/blood-2018-06-860270 DO - 10.1182/blood-2018-06-860270 ID - Ivanov2019 ER - TY - JOUR AU - Maas, C. PY - 2019 DA - 2019// TI - Plasminflammation—an emerging pathway to bradykinin production JO - Front Immunol VL - 10 UR - https://doi.org/10.3389/fimmu.2019.02046 DO - 10.3389/fimmu.2019.02046 ID - Maas2019 ER -