Search details
1.
Diagnostic utility of bleeding assessment tools in congenital fibrinogen deficiencies.
Haemophilia
; 29(3): 827-835, 2023 May.
Article
in English
| MEDLINE | ID: mdl-36897560
2.
A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family.
Haematologica
; 107(5): 1064-1071, 2022 05 01.
Article
in English
| MEDLINE | ID: mdl-34196169
3.
Treatment of rare factor deficiencies other than hemophilia.
Blood
; 133(5): 415-424, 2019 01 31.
Article
in English
| MEDLINE | ID: mdl-30559262
4.
An international registry of patients with plasminogen deficiency (HISTORY).
Haematologica
; 105(3): 554-561, 2020 03.
Article
in English
| MEDLINE | ID: mdl-32001536
5.
Exploring the global landscape of genetic variation in coagulation factor XI deficiency.
Blood
; 130(4): e1-e6, 2017 07 27.
Article
in English
| MEDLINE | ID: mdl-28615222
6.
Genome editing of factor X in zebrafish reveals unexpected tolerance of severe defects in the common pathway.
Blood
; 130(5): 666-676, 2017 08 03.
Article
in English
| MEDLINE | ID: mdl-28576875
7.
Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency.
Int J Mol Sci
; 20(4)2019 Feb 20.
Article
in English
| MEDLINE | ID: mdl-30791524
8.
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
9.
Profiling the mutational landscape of coagulation factor V deficiency.
Haematologica
; 105(4): e180-e185, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31399523
10.
Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease.
Haematologica
; 105(7): e365-e369, 2020 07.
Article
in English
| MEDLINE | ID: mdl-31699787
11.
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
12.
Rare bleeding disorders: worldwide efforts for classification, diagnosis, and management.
Semin Thromb Hemost
; 39(6): 579-84, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23888434
13.
Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders.
Expert Rev Hematol
; 16(sup1): 55-70, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36920862
14.
Safety and effectiveness of recombinant factor XIII-A2 in congenital factor XIII deficiency: Real-world evidence.
Res Pract Thromb Haemost
; 6(2): e12628, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-35243202
15.
Clinical and laboratory diagnosis of rare coagulation disorders (RCDs).
Thromb Res
; 196: 603-608, 2020 12.
Article
in English
| MEDLINE | ID: mdl-31515069
16.
Factor X deficiency.
Semin Thromb Hemost
; 35(4): 407-15, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19598069
17.
Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management.
Semin Thromb Hemost
; 35(4): 349-55, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19598063
18.
Management of rare acquired bleeding disorders.
Hematology Am Soc Hematol Educ Program
; 2019(1): 80-87, 2019 12 06.
Article
in English
| MEDLINE | ID: mdl-31808848
19.
Analysis of factor V in zebrafish demonstrates minimal levels needed for early hemostasis.
Blood Adv
; 3(11): 1670-1680, 2019 06 11.
Article
in English
| MEDLINE | ID: mdl-31167819
20.
Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency.
Haematologica
; 93(6): 934-8, 2008 Jun.
Article
in English
| MEDLINE | ID: mdl-18403394