Human Genome Epidemiology Literature Finder
Primary Immune Deficiency Diseases
Records 1 - 29 (of 29 Records) |
Query Trace: Hereditary Angioedema[original query] |
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Exon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema. Human immunology 2002 Jun 63 (6): 492-4. Freiberger Tomás, Vyskocilová Martina, Kolárová Lenka, Kuklínek Pavel, Kryst?fková Olga, Lahodná Marie, Hanzlíková Jana, Litzman Ji |
Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations. Allergy 2006 1 61 (2): 260-4. Kang H R, Yim E Y, Oh S Y, Chang Y S, Kim Y K, Cho S H, Min K U, Kim Y |
Analysis of SERPING1 expression on hereditary angioedema patients: quantitative analysis of full-length and exon 3 splicing variants. Immunology letters 2012 Jan 141 (2): 158-64. de la Cruz Rocío Mena, López-Lera Alberto, López-Trascasa Margari |
Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema. Molecular immunology 2013 Apr 53 (4): 431-4. Martinho A, Mendes J, Simões O, Nunes R, Gomes J, Dias Castro E, Leiria-Pinto P, Ferreira M B, Pereira C, Castel-Branco M G, Pais |
Antihistamine-resistant angioedema in women with negative family history: estrogens and F12 gene mutations. The American journal of medicine 2013 Dec 126 (12): 12. Bork K, Wulff K, Witzke G, Stanger C, Lohse P, Hardt J |
F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema. Allergy 2015 Aug . Speletas M, Szilágyi Á, Csuka D, Koutsostathis N, Psarros F, Moldovan D, Magerl M, Kompoti M, Varga L, Maurer M, Farkas H, Germenis A |
Characterization of patients with angioedema without wheals: the importance of F12 gene screening. Clinical immunology (Orlando, Fla.) 2015 Apr 157 (2): 239-48. Firinu Davide, Bafunno Valeria, Vecchione Gennaro, Barca Maria Pina, Manconi Paolo Emilio, Santacroce Rosa, Margaglione Maurizio, Del Giacco Stefano |
Genetic Determinants of C1 Inhibitor Deficiency Angioedema Age of Onset. International archives of allergy and immunology 2017 11 174 (3-4): 200-204. Gianni Panagiota, Loules Gedeon, Zamanakou Maria, Kompoti Maria, Csuka Dorottya, Psarros Fotis, Magerl Markus, Moldovan Dimitru, Maurer Marcus, Speletas Matthaios G, Farkas Henriette, Germenis Anastasios |
Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families. The journal of allergy and clinical immunology. In practice 2017 11 6 (4): 1209-1216.e8. Veronez Camila Lopes, Moreno Adriana S, Constantino-Silva Rosemeire Navickas, Maia Luana S M, Ferriani Mariana P L, Castro Fábio F M, Valle Solange Rodrigues, Nakamura Victor Koji, Cagini Nathália, Gonçalves Rozana Fátima, Mansour Eli, Serpa Faradiba Sarquis, Coelho Dias Gabriela Andrade, Piccirillo Miguel Alberto, Toledo Eliana, de Souza Bernardes Marli, Cichon Sven, Stieber Christiane, Arruda L Karla, Pesquero João Bosco, Grumach Anete Sevciov |
Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency. Orphanet journal of rare diseases 2017 01 12 (1): 5. Zotter Zsuzsanna, Nagy Zsolt, Patócs Attila, Csuka Dorottya, Veszeli Nóra, K?halmi Kinga Viktória, Farkas Henriet |
A hereditary angioedema screening on an index case: Turkey. Asian Pacific journal of allergy and immunology 2018 8 37 (3): 154-161. Ozkars Mehmet Yasar, Keskin Ozlem, Bayram Nazan, Keskin Mehmet, Bayram Hasan, Sahin Yavuz, Kucukosmanoglu Ercan, Attila Nurhan, Kirik Serkan Kir |
First Analysis of SERPING1 Gene in Patients with Hereditary Angioedema in Colombia Reveals Two Genotypic Variants in a Highly Symptomatic Individual. Journal of clinical immunology 2018 Apr . Rodríguez Jairo A, Narváez Carlos |
Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies. Frontiers in immunology 2018 4 9 500. Blazina Štefan, Debeljak Maruša, Košnik Mitja, Sim?i? Saša, Stopinšek Sanja, Markelj Gašper, Toplak Nataša, Kopa? Peter, Zakotnik Breda, Pokorn Marko, Av?in Tad |
Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2019 5 15 32. Bodian Dale L, Vilboux Thierry, Hauser Natalie |
International Consensus on the Use of Genetics in the Management of Hereditary Angioedema. The journal of allergy and clinical immunology. In practice 2019 11 8 (3): 901-911. Germenis Anastasios E, Margaglione Maurizio, Pesquero João Bosco, Farkas Henriette, Cichon Sven, Csuka Dorottya, Lera Alberto López, Rijavec Matija, Jolles Stephen, Szilagyi Agnes, Trascasa Margarita López, Veronez Camila Lopes, Drouet Christian, Zamanakou Maria, |
A hereditary angioedema screening in two villages, based on an index case, and identification of a novel mutation, "1033G>T", at the SERPING1 gene. Postepy dermatologii i alergologii 2019 10 36 (4): 403-411. Ozkars Mehmet Yasar, Kesk?n Ozlem, Bayram Nazan, Onay Huseyin, Kesk?n Mehmet, Bayram Hasan, Sah?n Yavuz, Küçükosmano?lu Ercan, K?r?k Serk |
Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations). Immunological investigations 2020 9 51 (1): 170-181. Nabilou Susan, Pak Fatemeh, Alizadeh Zahra, Fazlollahi Mohammad Reza, Houshmand Masoud, Ayazi Maryam, Mohammadzadeh Iraj, Bemanian Mohammad Hasan, Fayezi Abbas, Nabavi Mohammad, Saghafi Shiva, Mohammadian Sajedeh, Kokhaei Parviz, Moin Mostafa, Pourpak Zah |
Study of angiopoietin and plasminogen genes in hereditary angioedema. Revista da Associacao Medica Brasileira (1992) 2020 6 66 (4): 502-506. Kruk Tatielly, Chong-Neto Herberto José, Dias Marina Mendonça, Campos Wagner Narciso, Moreno Adriana Santos, Mikami Liya Regina, Ferrari Lilian Pereira, Arruda Luísa Karla de Paula, Rosário Filho Nels |
Association Between Self-Reported Dental Hygiene Practices and Dental Procedure-Related Recurrent Angioedema Attacks in HAE Subjects: A Multicenter Survey. The journal of allergy and clinical immunology. In practice 2020 6 8 (9): 3162-3169.e5. Singh Umesh, Lumry William R, Busse Paula, Wedner H James, Banerji Aleena, Craig Timothy J, Li H Henry, Tachdjian Raffi, Jacobs Joshua S, Riedl Marc A, Davis-Lorton Mark, Christiansen Sandra C, Zuraw Bruce L, Bernstein Jonathan |
The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant. Frontiers in genetics 2020 11 11 1033. Corvillo Fernando, de la Morena-Barrio María Eugenia, Marcos-Bravo Carmen, López-Trascasa Margarita, Vicente Vicente, Emsley Jonas, Caballero Teresa, Corral Javier, López-Lera Alber |
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor. Journal of clinical medicine 2020 10 9 (11): . Loules Gedeon, Parsopoulou Faidra, Zamanakou Maria, Csuka Dorottya, Bova Maria, González-Quevedo Teresa, Psarros Fotis, Porebski Gregor, Speletas Matthaios, Firinu Davide, Del Giacco Stefano, Suffritti Chiara, Makris Michael, Vatsiou Sofia, Zanichelli Andrea, Farkas Henriette, Germenis Anastasios |
In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency. Clinical reviews in allergy & immunology 2021 1 61 (1): 1-14. Loli-Ausejo David, López-Lera Alberto, Drouet Christian, Lluncor Marina, Phillips-Anglés Elsa, Pedrosa María, Cabañas Rosario, Caballero Tere |
Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes. Frontiers in genetics 2022 8 13 914376. Mathey Carina M, Maj Carlo, Scheer Annika B, Fazaal Julia, Wedi Bettina, Wieczorek Dorothea, Amann Philipp M, Löffler Harald, Koch Lukas, Schöffl Clemens, Dickel Heinrich, Ganjuur Nomun, Hornung Thorsten, Forkel Susann, Greve Jens, Wurpts Gerda, Hallberg Pär, Bygum Anette, Von Buchwald Christian, Karawajczyk Malgorzata, Steffens Michael, Stingl Julia, Hoffmann Per, Heilmann-Heimbach Stefanie, Mangold Elisabeth, Ludwig Kerstin U, Rasmussen Eva R, Wadelius Mia, Sachs Bernhardt, Nöthen Markus M, Forstner Andreas |
Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE). Frontiers in allergy 2022 7 3 868185. Parsopoulou Faidra, Loules Gedeon, Zamanakou Maria, Csuka Dorottya, Szilagyi Agnes, Kompoti Maria, Porebski Grzegorz, Psarros Fotis, Magerl Markus, Valerieva Anna, Staevska Maria, Obtulowicz Krystyna, Maurer Marcus, Speletas Matthaios, Farkas Henriette, Germenis Anastasios |
Mutation update of SERPING1 related to hereditary angioedema in the Chinese population. Hereditas 2022 Jul 159 (1): 28. Wang Xue, Lei Shubin, Xu Yingyang, Liu Shuang, Zhi Yuxia |
Determining biomarkers for evaluation and diagnosis of hereditary angioedema. Clinical and translational allergy 2022 10 12 (10): e12202. Singh Umesh, Bernstein Jonathan |
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort. Journal of clinical immunology 2023 8 . Hana Grombirikova, Viktor Bily, Premysl Soucek, Michal Kramarek, Roman Hakl, Lucie Ballonova, Barbora Ravcukova, Dita Ricna, Karolina Kozena, Lucie Kratochvilova, Marta Sobotkova, Radana Zachova, Pavel Kuklinek, Pavlina Kralickova, Irena Krcmova, Jana Hanzlikova, Martina Vachova, Olga Krystufkova, Eva Dankova, Milos Jesenak, Martina Novackova, Michal Svoboda, Jiri Litzman, Tomas Freiberg |
Screening for type II hereditary angioedema-the "poor man's c1-inhibitor function". The journal of allergy and clinical immunology. Global 2023 11 3 (1): 100179. Ankur Kumar Jindal, Valerie Chiang, Prabal Barman, Archan Sil, Sanchi Chawla, Elaine Y L Au, Amit Rawat, Philip H |
Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence. Journal of thrombosis and haemostasis : JTH 2023 1 21 (2): 237-254. Adenaeuer Anke, Barco Stefano, Trinchero Alice, Krutmann Sarah, Nazir Hanan Fawzy, Ambaglio Chiara, Rocco Vincenzo, Pancione Ylenia, Tomao Luigi, Ruiz-Sáez Arlette, Echenagucia Marion, Alesci Sonja, Sollfrank Stefanie, Ezigbo Eyiuche D, Häuser Friederike, Lackner Karl J, Lämmle Bernhard, Rossmann Hei |
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- Page last updated:Apr 22, 2024
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