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Impaired control of the contact system in hereditary angioedema with normal C1-inhibitor.

Bova M, Suffritti C, Bafunno V, Loffredo S, Cordisco G, Del Giacco S, De Pasquale TMA, Firinu D, Margaglione M, Montinaro V, Petraroli A, Radice A, Brussino L, Zanichelli A, Zoli A, Cicardi M.

Allergy. 2019 Dec 20. doi: 10.1111/all.14160. [Epub ahead of print]


International Consensus on the Use of Genetics in the Management of Hereditary Angioedema.

Germenis AE, Margaglione M, Pesquero JB, Farkas H, Cichon S, Csuka D, Lera AL, Rijavec M, Jolles S, Szilagyi A, Trascasa ML, Veronez CL, Drouet C, Zamanakou M; Hereditary Angioedema International Working Group.

J Allergy Clin Immunol Pract. 2019 Oct 24. pii: S2213-2198(19)30869-4. doi: 10.1016/j.jaip.2019.10.004. [Epub ahead of print] Review.


Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies.

Lunghi B, Lecchi A, Santacroce R, Scavone M, Paniccia R, Artoni A, Gachet C, Castaman G, Margaglione M, Bernardi F, Cattaneo M.

Haematologica. 2019 Oct 24. pii: haematol.2019.232850. doi: 10.3324/haematol.2019.232850. [Epub ahead of print]


Hereditary angioedema: Looking for bradykinin production and triggers of vascular permeability.

Margaglione M, D'Apolito M, Santocroce R, Maffione AB.

Clin Exp Allergy. 2019 Nov;49(11):1395-1402. doi: 10.1111/cea.13506. Epub 2019 Oct 21. Review.


Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria.

Grandone E, Martinelli P, Villani M, Vecchione G, Fischetti L, Leccese A, Santacroce R, Corso G, Margaglione M.

BMC Pregnancy Childbirth. 2019 Aug 30;19(1):318. doi: 10.1186/s12884-019-2474-5.


Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes.

Bottigliero D, Monaco I, Santacroce R, Casavecchia G, Correale M, Guastafierro F, Leccese A, Cordisco G, Ieva R, Trunzo R, Di Biase M, Margaglione M, Brunetti ND.

J Interv Card Electrophysiol. 2019 Nov;56(2):171-172. doi: 10.1007/s10840-019-00606-y. Epub 2019 Aug 15. No abstract available.


Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema.

d'Apolito M, Santacroce R, Colia AL, Cordisco G, Maffione AB, Margaglione M.

Clin Exp Allergy. 2019 May;49(5):626-635. doi: 10.1111/cea.13349. Epub 2019 Feb 19.


Double de novo mutations in dilated cardiomyopathy with cardiac arrest.

Monaco I, Santacroce R, Casavecchia G, Correale M, Bottigliero D, Cordisco G, Leccese A, Di Biase M, Margaglione M, Brunetti ND.

J Electrocardiol. 2019 Mar - Apr;53:40-43. doi: 10.1016/j.jelectrocard.2018.12.015. Epub 2018 Dec 21.


The role of genetics in the current diagnostic workup of idiopathic non-histaminergic angioedema.

Firinu D, Loffredo S, Bova M, Cicardi M, Margaglione M, Del Giacco S.

Allergy. 2019 Apr;74(4):810-812. doi: 10.1111/all.13667. Epub 2018 Dec 12. No abstract available.


Antiphospholipid Antibodies in a General Obstetric Population: Clinical Impact on Pregnancy Outcome and Relationship with the M2 Haplotype in the Annexin A5 (ANXA5) Gene.

Villani M, Colaizzo D, Martinelli P, Cappucci F, Fischetti L, Maruotti GM, Intrieri M, Greco L, Chinni E, Tiscia GL, Margaglione M, Grandone E; PRENACEL Study Group.

Hamostaseologie. 2019 Jun;39(2):203-207. doi: 10.1055/s-0038-1673414. Epub 2018 Oct 10.


Venous Thromboembolism in Women Undergoing Assisted Reproductive Technologies: Data from the RIETE Registry.

Grandone E, Di Micco PP, Villani M, Colaizzo D, Fernández-Capitán C, Del Toro J, Rosa V, Bura-Riviere A, Quere I, Blanco-Molina Á, Margaglione M, Monreal M; RIETE Investigators.

Thromb Haemost. 2018 Nov;118(11):1962-1968. doi: 10.1055/s-0038-1673402. Epub 2018 Oct 8.


Genetic Risk Factors and Inhibitor Development in Hemophilia: What Is Known and Searching for the Unknown.

Margaglione M, Intrieri M.

Semin Thromb Hemost. 2018 Sep;44(6):509-516. doi: 10.1055/s-0038-1660816. Epub 2018 Jun 25. Review.


Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders.

Tiscia GL, Margaglione M.

Int J Mol Sci. 2018 May 29;19(6). pii: E1597. doi: 10.3390/ijms19061597. Review.


A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (α2-antiplasmin) deficiency in an Italian patient.

Viganò S, D'Andrea G, Valle PD, Santacroce R, Margaglione M, D'Angelo A.

Thromb Res. 2018 Jun;166:60-62. doi: 10.1016/j.thromres.2018.04.006. Epub 2018 Apr 7. No abstract available.


Preliminary Data From the Study of Coagulative Profile of HIV Infected Individuals Suggest a Role For Point Mutations in the Gene in Protein S Deficiency in Individuals Undergoing Highly Antiretroviral Therapy.

Di Stefano M, D'Andrea G, Zoboli F, Faleo G, Fasano M, Martinelli D, Margaglione M, Santantonio TA, Fiore JR.

Open AIDS J. 2018 Feb 28;12:6-10. doi: 10.2174/1874613601812010006. eCollection 2018.


Venous thromboembolism in assisted reproductive technologies: comparison between unsuccessful versus successful cycles in an Italian cohort.

Villani M, Favuzzi G, Totaro P, Chinni E, Vecchione G, Vergura P, Fischetti L, Margaglione M, Grandone E.

J Thromb Thrombolysis. 2018 Feb;45(2):234-239. doi: 10.1007/s11239-017-1584-z.


Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy.

Tiscia G, Favuzzi G, Chinni E, Colaizzo D, Fischetti L, Intrieri M, Margaglione M, Grandone E.

Hum Genome Var. 2017 Nov 2;4:17048. doi: 10.1038/hgv.2017.48. eCollection 2017.


Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema.

Bafunno V, Firinu D, D'Apolito M, Cordisco G, Loffredo S, Leccese A, Bova M, Barca MP, Santacroce R, Cicardi M, Del Giacco S, Margaglione M.

J Allergy Clin Immunol. 2018 Mar;141(3):1009-1017. doi: 10.1016/j.jaci.2017.05.020. Epub 2017 Jun 8.


Use of dabigatran and rivaroxaban in non-valvular atrial fibrillation: one-year follow-up experience in an Italian centre.

Schiavoni M, Margaglione M, Coluccia A.

Blood Transfus. 2018 Feb;16(2):209-214. doi: 10.2450/2017.0196-16. Epub 2017 Jan 30.


Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.

Cotlarciuc I, Marjot T, Khan MS, Hiltunen S, Haapaniemi E, Metso TM, Putaala J, Zuurbier SM, Brouwer MC, Passamonti SM, Bucciarelli P, Pappalardo E, Patel T, Costa P, Colombi M, Canhão P, Tkach A, Santacroce R, Margaglione M, Favuzzi G, Grandone E, Colaizzo D, Spengos K, Arauz A, Hodge A, Ditta R, Debette S, Zedde M, Pare G, Ferro JM, Thijs V, Pezzini A, Majersik JJ, Martinelli I, Coutinho JM, Tatlisumak T, Sharma P; ISGC (International Stroke Genetics Consortium) and BEAST investigators.

BMJ Open. 2016 Nov 22;6(11):e012351. doi: 10.1136/bmjopen-2016-012351.

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