标题
Update on the causes of platelet disorders and functional consequences
作者
关键词
-
出版物
International Journal of Laboratory Hematology
Volume 36, Issue 3, Pages 313-325
出版商
Wiley
发表日期
2014-04-19
DOI
10.1111/ijlh.12213
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation
- (2014) Dominique Bluteau et al. JOURNAL OF CLINICAL INVESTIGATION
- ACTN1 Mutations Cause Congenital Macrothrombocytopenia
- (2013) Shinji Kunishima et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects
- (2013) J. Stockley et al. BLOOD
- GFI1Bmutation causes a bleeding disorder with abnormal platelet function
- (2013) W. S. Stevenson et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Utility of the ISTH bleeding assessment tool in predicting platelet defects in participants with suspected inherited platelet function disorders
- (2013) G. C. Lowe et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Recommendations for the standardization of light transmission aggregometry: a consensus of the working party from the platelet physiology subcommittee of SSC/ISTH
- (2013) M. Cattaneo et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- The organizing principle of the platelet glycoprotein Ib-IX-V complex
- (2013) R. Li et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome
- (2013) Davide Monteferrario et al. NEW ENGLAND JOURNAL OF MEDICINE
- Hermansky-Pudlak Syndrome: Health Care Throughout Life
- (2013) S. L. Seward et al. PEDIATRICS
- The BEACH Is Hot: A LYST of Emerging Roles for BEACH-Domain Containing Proteins in Human Disease
- (2013) Andrew R. Cullinane et al. TRAFFIC
- Heterogeneity of Platelet Functional Alterations in Patients With Filamin A Mutations
- (2012) Eliane Berrou et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet -granule biogenesis
- (2012) D. Urban et al. BLOOD
- MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations
- (2012) I. Antony-Debre et al. BLOOD
- Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
- (2012) Cornelis A Albers et al. NATURE GENETICS
- Congenital defects of platelet function
- (2012) Gianmarco Podda et al. PLATELETS
- Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2
- (2011) Tommaso Pippucci et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models
- (2011) A. T. Nurden et al. BLOOD
- Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias
- (2011) Carlo L. Balduini et al. BRITISH JOURNAL OF HAEMATOLOGY
- The platelet P2Y12 receptor for adenosine diphosphate: congenital and drug-induced defects
- (2010) M. Cattaneo BLOOD
- ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders
- (2010) F. RODEGHIERO et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Calcium-dependent phospholipid scrambling by TMEM16F
- (2010) Jun Suzuki et al. NATURE
- Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene
- (2009) A. D. Paterson et al. BLOOD
- A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis
- (2009) A. D. Mumford et al. BLOOD
- Wiskott-Aldrich syndrome
- (2009) Luigi D Notarangelo et al. CURRENT OPINION IN HEMATOLOGY
- A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder
- (2009) C. HERMANS et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Mutation of the 1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly
- (2008) S. Kunishima et al. BLOOD
- A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia
- (2008) Ian M Morison et al. NATURE GENETICS
- Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)
- (2008) David Geneviève et al. NATURE GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started