ArticleHaematologica2017
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
Article in Haematologica, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
- Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome.European journal of haematology · 2026Article
- Expanded clinical, genetic, and biological spectrum of filaminopathies with hematological involvement.Haematologica · 2026Article
- Characterization of a novelHaematologica · 2025Article
- Heterozygous nonsenseResearch and practice in thrombosis and haemostasis · 2025Article
- FLI1 and GATA1 governHaematologica · 2025Article
- Article
- iCLOTS: open-source, artificial intelligence-enabled software for analyses of blood cells in microfluidic and microscopy-based assays.Nature communications · 2023Article
- A novel association between platelet filamin A and soluble N-ethylmaleimide sensitive factor attachment proteins regulates granule secretion.Research and practice in thrombosis and haemostasis · 2023Article
- Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.Frontiers in oncology · 2023Review
- Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes.Haematologica · 2022Article
- Screening platelet function in blood donors.Transfusion · 2022Article
- Genetics of inherited thrombocytopenias.Blood · 2022Review
- Inherited Platelet Disorders: An Updated Overview.International journal of molecular sciences · 2021Review
- Platelet δ-Storage Pool Disease: An Update.Journal of clinical medicine · 2020Review
- Clonal hematopoietic mutations linked to platelet traits and the risk of thrombosis or bleeding.Haematologica · 2020Review
- Use of electron microscopy to study platelets and thrombi.Platelets · 2020Review
- Phosphatidylinositol 3-monophosphate: A novel actor in thrombopoiesis and thrombosis.Research and practice in thrombosis and haemostasis · 2020Review
- Strengths and Weaknesses of Light Transmission Aggregometry in Diagnosing Hereditary Platelet Function Disorders.Journal of clinical medicine · 2020Review
- Novel ACTN1 variants in cases of thrombocytopenia.Human mutation · 2019Article
- Increased levels of the megakaryocyte and platelet expressed cysteine proteases stefin A and cystatin A prevent thrombosis.Scientific reports · 2019Article
Corrections and comments
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Authors and funding
24 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital macrothrombocytopenia is a family of rare diseases, of which a significant fraction remains to be genetically characterized. To analyze cases of unexplained thrombocytopenia, 27 individuals from a patient cohort of the Bleeding and Thrombosis Exploration Center of the University Hospital of Marseille were recruited for a high-throughput gene sequencing study. This strategy led to the identification of two novel
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.