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1.
Genetic Variants Identified by Whole Exome Sequencing in a Large Italian Family with High Plasma Levels of Factor VIII and Von Willebrand Factor.
Int J Mol Sci
; 24(18)2023 Sep 15.
Article
in English
| MEDLINE | ID: mdl-37762470
2.
Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A.
Haemophilia
; 28(2): 270-277, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-35182444
3.
Complications of whole-exome sequencing for causal gene discovery in primary platelet secretion defects.
Haematologica
; 104(10): 2084-2090, 2019 10.
Article
in English
| MEDLINE | ID: mdl-30819905
4.
Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency.
Eur J Clin Invest
; 45(10): 1087-91, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26222694
5.
Congenital and acquired ADAMTS13 deficiency: Two mechanisms, one patient.
J Clin Apher
; 30(4): 252-6, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25367325
6.
Congenital thrombotic thrombocytopenic purpura with novel mutations in three unrelated Turkish children.
Pediatr Blood Cancer
; 61(3): 558-61, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24115559
7.
Spontaneous epidural hematoma in a child with inherited factor XIII deficiency.
J Pediatr Hematol Oncol
; 36(1): 62-5, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-23619114
8.
Type 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.
Blood Adv
; 8(7): 1725-1736, 2024 Apr 09.
Article
in English
| MEDLINE | ID: mdl-38315875
9.
Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.
Blood Adv
; 8(6): 1392-1404, 2024 Mar 26.
Article
in English
| MEDLINE | ID: mdl-38286442
10.
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
NPJ Genom Med
; 8(1): 31, 2023 Oct 16.
Article
in English
| MEDLINE | ID: mdl-37845247
11.
Genetic determinants of enhanced von Willebrand factor clearance from plasma.
J Thromb Haemost
; 21(5): 1112-1122, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36754679
12.
Novel aspects of factor XIII deficiency.
Curr Opin Hematol
; 18(5): 366-72, 2011 Sep.
Article
in English
| MEDLINE | ID: mdl-21738029
13.
Worldwide SARS-CoV-2 haplotype distribution in early pandemic.
PLoS One
; 17(2): e0263705, 2022.
Article
in English
| MEDLINE | ID: mdl-35171928
14.
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Blood Adv
; 6(13): 4031-4040, 2022 07 12.
Article
in English
| MEDLINE | ID: mdl-35452508
15.
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
PLoS One
; 16(10): e0258675, 2021.
Article
in English
| MEDLINE | ID: mdl-34662354
16.
ADAMTS13 activity, high VWF and FVIII levels in the pathogenesis of deep vein thrombosis.
Thromb Res
; 197: 132-137, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33212380
17.
Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.
Blood Adv
; 5(15): 2987-3001, 2021 08 10.
Article
in English
| MEDLINE | ID: mdl-34351388
18.
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.
Hum Mutat
; 31(1): 11-9, 2010 Jan.
Article
in English
| MEDLINE | ID: mdl-19847791
19.
Risk of diagnostic delay in congenital thrombotic thrombocytopenic purpura.
J Thromb Haemost
; 17(4): 666-669, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-30762934
20.
Drop of residual plasmatic activity of ADAMTS13 to undetectable levels during acute disease in a patient with adult-onset congenital thrombotic thrombocytopenic purpura.
Blood Cells Mol Dis
; 50(1): 59-60, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-22981442