Detalles de la búsqueda
1.
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Blood
; 136(17): 1956-1967, 2020 10 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-32693407
2.
Platelet function testing: Current practice among clinical centres in Northern Europe.
Haemophilia
; 28(4): 642-648, 2022 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-35510959
3.
Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.
Haemophilia
; 27(1): e69-e77, 2021 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-33161638
4.
Highly impaired platelet ultrastructure in two families with novel IKZF5 variants.
Platelets
; 32(4): 492-497, 2021 May 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-32419556
5.
A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency.
Platelets
; 32(5): 701-704, 2021 Jul 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32633597
6.
Iron overload and iron chelating agent exposure in anemia-associated outer retinal degeneration: a case report and review of the literature.
BMC Ophthalmol
; 21(1): 277, 2021 Jul 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-34256738
7.
Genetic screening of children with suspected inherited bleeding disorders.
Haemophilia
; 26(2): 314-324, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-32100410
8.
Platelet expression of the transcription factor ETV6 associates with ETV6-related thrombocytopenia and can be detected by immunofluorescence on the blood film.
Br J Haematol
; 204(2): 710-714, 2024 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37985135
9.
Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding.
Platelets
; 29(1): 56-64, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-28399723
10.
Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Br J Haematol
; 179(2): 308-322, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28748566
11.
Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia.
Br J Haematol
; 186(2): 373-376, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30908598
12.
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
J Thromb Haemost
; 22(4): 1179-1186, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38103735
13.
A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations.
Haematologica
; 103(6): e259-e263, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29439184
14.
Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders.
J Thromb Haemost
; 21(4): 1010-1019, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36732160
15.
Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism.
Nat Genet
; 55(3): 399-409, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36658437
16.
[Inherited platelet disorders].
Ugeskr Laeger
; 183(42)2021 10 18.
Artículo
en Da
| MEDLINE | ID: mdl-34709163
17.
Levels of procoagulant microparticles expressing phosphatidylserine contribute to bleeding phenotype in patients with inherited thrombocytopenia.
Blood Coagul Fibrinolysis
; 32(7): 480-490, 2021 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34475331
18.
Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE.
Front Immunol
; 12: 777402, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34858435
19.
The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark.
J Thromb Haemost
; 19(11): 2884-2892, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34333846
20.
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
J Thromb Haemost
; 19(10): 2612-2617, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34355501