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Quoted phrase not found in phrase index: "Hereditary factor XII deficiency disease"
Page 1
Hereditary and Acquired Angioedema: Heterogeneity of Pathogenesis and Clinical Phenotypes.
Bova M, De Feo G, Parente R, De Pasquale T, Gravante C, Pucci S, Nettis E, Triggiani M. Bova M, et al. Int Arch Allergy Immunol. 2018;175(3):126-135. doi: 10.1159/000486312. Epub 2018 Jan 26. Int Arch Allergy Immunol. 2018. PMID: 29393169 Review.
This classification distinguishes hereditary and acquired forms of AE, either related or unrelated to C1 inhibitor deficiency. Recently, additional mechanisms have been involved in the AE pathogenesis, including the uncontrolled activation of factor XII …
This classification distinguishes hereditary and acquired forms of AE, either related or unrelated to C1 inhibitor deficiency. …
"Nuts and Bolts" of Laboratory Evaluation of Angioedema.
Farkas H, Veszeli N, Kajdácsi E, Cervenak L, Varga L. Farkas H, et al. Clin Rev Allergy Immunol. 2016 Oct;51(2):140-51. doi: 10.1007/s12016-016-8539-6. Clin Rev Allergy Immunol. 2016. PMID: 27142368 Review.
Currently, only for five out of the nine different types of angioedema can be diagnosed by laboratory testing, and these occur only in a minority of the patient population. Hereditary angioedema with C1-inhibitor (C1-INH) deficiency type I can be diagnosed by the lo …
Currently, only for five out of the nine different types of angioedema can be diagnosed by laboratory testing, and these occur only in a min …
The burden of illness in patients with hereditary angioedema.
Banerji A. Banerji A. Ann Allergy Asthma Immunol. 2013 Nov;111(5):329-36. doi: 10.1016/j.anai.2013.08.019. Epub 2013 Sep 18. Ann Allergy Asthma Immunol. 2013. PMID: 24125136 Review.
OBJECTIVE: Hereditary angioedema (HAE) is a rare genetic disease characterized by long-term recurrent attacks of subcutaneous or submucosal edema in different parts of the body. ...RESULTS: Hereditary angioedema is associated with a significant and multifaceted dise …
OBJECTIVE: Hereditary angioedema (HAE) is a rare genetic disease characterized by long-term recurrent attacks of subcutaneous or subm …
Whole-exome sequencing reveals a novel frameshift mutation in a consanguineous family with a hereditary coagulation factor XII deficiency.
Ren S, Cai D, Xiao L, Shen H, Ren C. Ren S, et al. Clin Biochem. 2023 Aug;118:110602. doi: 10.1016/j.clinbiochem.2023.110602. Epub 2023 Jun 28. Clin Biochem. 2023. PMID: 37391120 Free article.
BACKGROUND AND AIMS: We aimed to elucidate a hereditary mutation of coagulation factor XII (FXII) in a consanguineous Chinese family. ...CONCLUSION: The c.150delC frameshift mutation p.Phe51Serfs*44 in the F12 gene likely explains the low FXII level and the m …
BACKGROUND AND AIMS: We aimed to elucidate a hereditary mutation of coagulation factor XII (FXII) in a consanguineous C …
Hereditary angioedema in childhood: an approach to management.
Ebo DG, Verweij MM, De Knop KJ, Hagendorens MM, Bridts CH, De Clerck LS, Stevens WJ. Ebo DG, et al. Paediatr Drugs. 2010 Aug 1;12(4):257-68. doi: 10.2165/11532590-000000000-00000. Paediatr Drugs. 2010. PMID: 20593909 Review.
Hereditary angioedema (HAE) is an inherited disorder characterized by recurrent, circumscribed, non-pitting, non-pruritic, and rather painful subepithelial swelling of sudden onset, which fades during the course of 48-72 hours, but can persist for up to 1 week. ...P …
Hereditary angioedema (HAE) is an inherited disorder characterized by recurrent, circumscribed, non-pitting, non-pruritic, and rather …
Hereditary angioedema with F12 mutation: factors modifying the clinical phenotype.
Charignon D, Ghannam A, Defendi F, Ponard D, Monnier N, López Trascasa M, Launay D, Caballero T, Djenouhat K, Fain O, Cichon S, Martin L, Drouet C. Charignon D, et al. Allergy. 2014 Dec;69(12):1659-65. doi: 10.1111/all.12515. Epub 2014 Oct 10. Allergy. 2014. PMID: 25134986
BACKGROUND: Hereditary angioedema (HAE) with normal C1 inhibitor (C1Inh) associated with the c.983C>A and c.983C>G mutations of the F12 gene (FXII-HAE) is a rare condition, and presents with highly variable clinical expression. ...CONCLUSIONS: The FXII-HAE is associa …
BACKGROUND: Hereditary angioedema (HAE) with normal C1 inhibitor (C1Inh) associated with the c.983C>A and c.983C>G mutations of …
Hereditary angioedema with normal C1 inhibitor: clinical symptoms and course.
Bork K, Gül D, Hardt J, Dewald G. Bork K, et al. Am J Med. 2007 Nov;120(11):987-92. doi: 10.1016/j.amjmed.2007.08.021. Am J Med. 2007. PMID: 17976427
Erythema marginatum was not observed. A subgroup of patients from families with coagulation factor XII mutations showed the same symptoms as the other patients. ...The main clinical features include skin swellings, tongue swellings, and abdominal pain attacks. There …
Erythema marginatum was not observed. A subgroup of patients from families with coagulation factor XII mutations showed the sa …
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.
Dewald G, Bork K. Dewald G, et al. Biochem Biophys Res Commun. 2006 May 19;343(4):1286-9. doi: 10.1016/j.bbrc.2006.03.092. Biochem Biophys Res Commun. 2006. PMID: 16638441
Hereditary angioedema is characterized by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The two classic types are both caused by mutations within the complement C1 inhibitor gene. A recently described new type d …
Hereditary angioedema is characterized by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper air …
A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary angioedema with normal C1 inhibitor.
Dewald G. Dewald G. Biochem Biophys Res Commun. 2018 Mar 25;498(1):193-198. doi: 10.1016/j.bbrc.2017.12.060. Biochem Biophys Res Commun. 2018. PMID: 29548426
As previously shown by us, one subgroup of 'HAE with normal C1 inhibitor' is caused by mutations of the coagulation factor XII (F12) gene. For the present study, following the exclusion of numerous candidate genes, we screened eight unrelated index patients represen …
As previously shown by us, one subgroup of 'HAE with normal C1 inhibitor' is caused by mutations of the coagulation factor XII …
Reevaluation of the incidence of thromboembolic complications in congenital factor XII deficiency--a study on 73 subjects from 14 Swiss families.
Zeerleder S, Schloesser M, Redondo M, Wuillemin WA, Engel W, Furlan M, Lämmle B. Zeerleder S, et al. Thromb Haemost. 1999 Oct;82(4):1240-6. Thromb Haemost. 1999. PMID: 10544906
To further elucidate the debated role of hereditary FXII deficiency as a thrombophilic risk factor this follow-up study on 65 subjects out of 12 Swiss families was undertaken (follow-up: 6 yrs). ...Kaplan-Meier analysis of thrombosis-free survival suggests th …
To further elucidate the debated role of hereditary FXII deficiency as a thrombophilic risk factor this follow-up study …
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