Detalhe da pesquisa
1.
DAB2IP associates with hereditary angioedema: insights into the role of VEGF signaling in HAE pathophysiology.
J Allergy Clin Immunol
; 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38823490
2.
Coma in adult cerebral venous thrombosis: The BEAST study.
Eur J Neurol
; : e16311, 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38646961
3.
De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis.
Int J Mol Sci
; 25(5)2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38474032
4.
The Role of Genetics in the Management of Heart Failure Patients.
Int J Mol Sci
; 24(20)2023 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37894902
5.
Genome-Wide Association Study Identifies First Locus Associated with Susceptibility to Cerebral Venous Thrombosis.
Ann Neurol
; 90(5): 777-788, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34459509
6.
Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema.
Clin Exp Allergy
; 49(5): 626-635, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689269
7.
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria.
BMC Pregnancy Childbirth
; 19(1): 318, 2019 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31470807
8.
Double de novo mutations in dilated cardiomyopathy with cardiac arrest.
J Electrocardiol
; 53: 40-43, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30611920
9.
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema.
J Allergy Clin Immunol
; 141(3): 1009-1017, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28601681
10.
Characterization of patients with angioedema without wheals: the importance of F12 gene screening.
Clin Immunol
; 157(2): 239-48, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25744496
11.
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies.
Haematologica
; 105(7): e361-e364, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31649128
12.
A myoferlin gain-of-function variant associates with a new type of hereditary angioedema.
Allergy
; 75(11): 2989-2992, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32542751
13.
Gene-Gene Interaction Between Factor-XI and ABO Genes in Cerebral Venous Thrombosis: The BEAST Study.
Neurology
; 102(11): e209445, 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38759137
14.
A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis.
Genes (Basel)
; 14(2)2023 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833354
15.
A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis.
Genes (Basel)
; 14(7)2023 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510285
16.
Age of onset of cerebral venous thrombosis: the BEAST study.
Eur Stroke J
; 8(1): 344-350, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37021156
17.
The Genetics of Hereditary Angioedema: A Review.
J Clin Med
; 10(9)2021 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34065094
18.
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia.
Blood
; 122(26): 4289-91, 2013 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357714
19.
Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect?
Hemoglobin
; 33(2): 155-7, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19373593
20.
Use of Catridecacog in a patient with severe Factor XIII deficiency undergoing surgery.
Hematol Rep
; 11(1): 7912, 2019 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30915205