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.
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
3.
Liver Cirrhosis Patients Homozygous for MTHFR C677T Develop Portal Vein Thrombosis 8 Years Earlier Than Wild Type.
Dig Dis Sci
; 68(4): 1332-1338, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35999432
4.
Juvenile patients with the homozygous MTHFR C677T genotype develop ischemic stroke 5 years earlier than wild type.
J Thromb Thrombolysis
; 54(2): 330-338, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35917096
5.
Validation of PLASMIC score and follow-up data in a cohort of patients with suspected microangiopathies from Southern Italy.
J Thromb Thrombolysis
; 46(2): 174-179, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29737462
6.
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
7.
Identification of naïve HCV-1 patients with chronic hepatitis who may benefit from dual therapy with peg-interferon and ribavirin.
J Hepatol
; 60(1): 16-21, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23973930
8.
Variation in genes encoding for interferon λ-3 and λ-4 in the prediction of HCV-1 treatment-induced viral clearance.
Liver Int
; 34(9): 1369-77, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25283962
9.
Homozygous MTHFR C667T carriers ≤45 years old develop central retinal vein occlusion five years earlier than wild type.
Ophthalmic Genet
; : 1-6, 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38390741
10.
Homozygous MTHFR C677T carriers develop idiopathic portal vein thrombosis 20 years earlier than wild type.
Blood Coagul Fibrinolysis
; 35(4): 180-186, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38526965
11.
Earlier onset of peripheral arterial thrombosis in homozygous MTHFR C677T carriers than in other MTHFR genotypes: a cohort study.
Clin Exp Med
; 23(2): 503-509, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35362772
12.
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
13.
Hereditary protein C deficiency and thrombosis risk: genotype and phenotype relation in a large Italian family.
Eur J Haematol
; 88(4): 336-9, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22168450
14.
Associations Between Personality Traits, Perceived Stress and Depressive Symptoms in Gynecological Cancer Patients Characterized by the Short and Long Allele Variant of the 5-HTTLPR Genotype: Preliminary Results.
Clin Neuropsychiatry
; 19(3): 156-162, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821869
15.
Psychosomatic syndromes are associated with IL-6 pro-inflammatory cytokine in heart failure patients.
PLoS One
; 17(3): e0265282, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35271674
16.
Rare Defects: Looking at the Dark Face of the Thrombosis.
Int J Environ Res Public Health
; 18(17)2021 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34501736
17.
The Genetics of Hereditary Angioedema: A Review.
J Clin Med
; 10(9)2021 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34065094
18.
Homozygous methylentetrahydrofolate reductase C667T genotype anticipates age at venous thromboembolism by one decade.
Blood Coagul Fibrinolysis
; 32(6): 382-386, 2021 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34397449
19.
Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C).
Genes (Basel)
; 12(9)2021 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573276
20.
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