ReviewHuman genetics2012
Genetics of familial forms of thrombocytopenia.
Review in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.
- Genetic variants associated with platelet count are predictive of human disease and physiological markers.Communications biology · 2021Pooled it
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- Impact of HLD6-associated TUBB4A mutant proteins on cell morphogenesis.BMC research notes · 2025Article
- Article
- An Innovative Inhibitor with a New Chemical Moiety Aimed at Biliverdin IXβ Reductase for Thrombocytopenia and Resilient against Cellular Degradation.Pharmaceutics · 2024Article
- The RNA-binding protein SRSF3 has an essential role in megakaryocyte maturation and platelet production.Blood · 2022Article
- Misdiagnosed thrombocytopenia in children and adolescents: analysis of the Pediatric and Adult Registry on Chronic ITP.Blood advances · 2021Article
- Genome-wide linkage analysis and whole-exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia.British journal of haematology · 2019Article
- A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.Research and practice in thrombosis and haemostasis · 2018Article
- Bone marrow morphology and disease progression in congenital thrombocytopenia: a detailed clinicopathologic and genetic study of eight cases.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2017Article
- Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.Platelets · 2017Review
- The Centenary of Immune Thrombocytopenia-Part 2: Revising Diagnostic and Therapeutic Approach.Frontiers in pediatrics · 2017Review
- Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.Haematologica · 2016Article
- GATA1 Binding Kinetics on Conformation-Specific Binding Sites Elicit Differential Transcriptional Regulation.Molecular and cellular biology · 2016Article
- Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.PLoS genetics · 2015Article
- ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.Blood · 2015Article
- Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in Childhood.Frontiers in pediatrics · 2015Review
- Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.BMC medical genetics · 2014Article
- Review
- Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.Blood · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
The joint application of clinical and genetic investigation to patients with inherited thrombocytopenias, as well as the availability of new methods for studying megakaryopoiesis, has greatly expanded the knowledge of these disorders in the last few years with regard to their etiology, pathogenesis and clinical aspects. In particular, new diseases have been described, as deriving from mutations in the genes FLNA, TUBB1, ITGA2/ITGB3, ANKRD26, CYCS, and ABCG5 or ABCG8. Moreover, forms previously considered separate entities were found to be different clinical aspects of a single disease. For instance, identification of MYH9 as the gene whose mutations cause the May-Hegglin anomaly led to the recognition that Sebastian platelet syndrome, Epstein syndrome, and Fechtner syndrome derive from mutations of the same gene and describe overlapping disorders. Despite these advances, knowledge of hereditary thrombocytopenias is still far from satisfactory because for approximately half of the patients it is not possible to formulate a definite diagnosis in that their illnesses has not yet been described. In this review, we provide a systematic description of hereditary thrombocytopenias as we know them today, giving special attention to genetic aspects.
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What OpenQuestion holds
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 OpenQuestion graph.