Associated Papers
Phenotypic and genotypic evaluation of bleeding diagnostic dilemmas: Two case studies.
Gu SX et al.
Blood Cells, Molecules & Diseases, 2025
Clinical Characteristics and Molecular Genetic Analysis of a Pedigree with Glanzmann's Thrombasthenia.
Zhu Q et al.
Alternative Therapies in Health and Medicine, 2024
In vitro characterization of rare anti-αIIbβ3 isoantibodies produced by patients with Glanzmann thrombasthenia that severely block fibrinogen binding and generate procoagulant platelets via complement activation.
Lee CSM et al.
Research and Practice in Thrombosis and Haemostasis, 2024
Iron deficiency anemia and bleeding management in pediatric patients with Bernard-Soulier syndrome and Glanzmann Thrombasthenia: A single-institution analysis.
Lee A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Lassandro G et al.
Frontiers in Pediatrics, 2022
Nonsense-mediated mRNA decay efficiency influences bleeding severity in ITGA2B c.2659C > T (p.Q887X) knock-in mice.
Xie Z et al.
Clinical Genetics, 2021
Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).
Yang EJ et al.
Genes, 2021
Immunization against αIIb β3 and αv β3 in Glanzmann thrombasthenia patients carrying the French Gypsy mutation.
Fiore M et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?
Nurden A
Journal of Blood Medicine, 2021
[Molecular analysis of gene mutations in eight patients with Glanzmann's thrombasthenia].
Miao LZ et al.
Zhonghua Yi Xue Za Zhi, 2018
Clinical and molecular insights into Glanzmann's thrombasthenia in China.
Zhou L et al.
Clinical Genetics, 2018
Novel mutations in Thai patients with glanzmann thrombasthenia.
Ittiwut R et al.
European Journal of Haematology, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.
Park KJ et al.
Pediatric Blood & Cancer, 2012
Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27.
Jayo A et al.
Haematologica, 2006
Competition between normal [674C] and mutant [674R] subunits: role of the molecular chaperone BiP in the processing of GPIIb-IIIa complexes.
Arias-Salgado EG et al.
Blood, 2001
Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia.
Ruan J et al.
British Journal of Haematology, 1999
Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17.
French DL et al.
British Journal of Haematology, 1998
Glanzmann's thrombasthenia: an overview.
Kannan M et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0