Detalles de la búsqueda
1.
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Am J Hum Genet;
108(6): 1040-1052, 2021 06 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33964207
2.
How I manage pregnancy in women with Glanzmann thrombasthenia.
Blood;
139(17): 2632-2641, 2022 04 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-35286390
3.
Combined Platelet and Red Blood Cell Recovery during On-pump Cardiac Surgery Using same™ by i-SEP Autotransfusion Device: A First-in-human Noncomparative Study (i-TRANSEP Study).
Anesthesiology;
139(3): 287-297, 2023 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37294939
4.
High Rates of Anti-αIIbß3 Antibodies Produced by a Glanzmann Thrombasthenia Patient after First and Unique Red Blood Cells Administration.
Acta Haematol;
146(1): 44-46, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36103848
5.
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.
Platelets;
32(3): 420-423, 2021 Apr 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32245340
6.
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Genet Med;
22(10): 1613-1622, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32565547
7.
Anti-αIIb ß3 immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations.
Br J Haematol;
181(2): 173-182, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29611179
8.
Clinical and Laboratory Findings in Patients with δ-Storage Pool Disease: A Case Series.
Semin Thromb Hemost;
43(1): 48-58, 2017 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-27304079
9.
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Haematologica;
102(2): 282-294, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27663637
10.
Atypical late diagnosis of Noonan syndrome revealed by bleedings due to platelet dysfunction.
J Thromb Thrombolysis;
53(2): 557-560, 2022 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-34368936
11.
A diagnostic approach that may help to discriminate inherited thrombocytopenia from chronic immune thrombocytopenia in adult patients.
Platelets;
27(6): 555-62, 2016 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-27025585
12.
Expanding the Mutation Spectrum Affecting αIIbß3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
Hum Mutat;
36(5): 548-61, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25728920
13.
Evaluation of the potential utility of the total thrombus-formation analysis system in comparison to the platelet function analyser in subjects with primary haemostatic defects.
Br J Haematol;
191(1): e7-e10, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32609384
14.
High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island.
Br J Haematol;
189(3): e67-e71, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31997307
15.
Successful management of a pregnant woman with severe ANKRD26-related thrombocytopenia and anti-HPA-5b alloimmunization.
Platelets;
31(6): 827-829, 2020 08 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-31607198
16.
Successful management of transcatheter aortic valve implantation by platelet transfusions in a nonagenarian patient with severe autoimmune factor V deficiency.
Ann Hematol;
98(8): 1991-1992, 2019 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-30830247
17.
First report of a subacute stent thrombosis in a prasugrel resistant patient successfully managed with ticagrelor.
Platelets;
25(8): 636-8, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24245489
18.
In vitro characterization of rare anti-αIIbß3 isoantibodies produced by patients with Glanzmann thrombasthenia that severely block fibrinogen binding and generate procoagulant platelets via complement activation.
Res Pract Thromb Haemost;
8(1): 102253, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38268518
19.
Association of laboratory test results with the bleeding history in patients with inherited platelet function disorders (the Bleeding Assesment Tool - LABoratory tests substudy): communication from the Platelet Physiology ISTH-SSC.
Res Pract Thromb Haemost;
8(1): 102305, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38292347
20.
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
Blood;
118(23): 5996-6005, 2011 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-21917754