ReviewBiomedical reports2021
An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review).
Review in Biomedical reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06958380 (The Impact of Corrective Exercise and Rehabilitation on a Patient With Fanconi Anemia), which is not on this map. Cited by 37 papers.
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.
The Impact of Corrective Exercise and Rehabilitation on a Patient With Fanconi Anemia: A Clinical Case Study
Who cites it
37 citing papers in PubMed, 66 citations in OpenAlex.
- Rare genetic diseases associated with G-quadruplex-induced replication stress.Communications biology · 2026Review
- Clinical, cytogenetic, and molecular insights from 32 years of the Portuguese Fanconi anemia cohort.Genetics in medicine open · 2026Article
- Article
- Loss of Fanconi anemia proteins causes a reliance on lysosomal exocytosis.Cell death & disease · 2025Article
- HOX and MEINOX in cellular plasticity, fibrosis, and cancer.World journal of stem cells · 2025Review
- Development and validation of nomograms for survival prediction in Fanconi anemia.Blood science (Baltimore, Md.) · 2025Article
- High Burden of Non-Clonal Chromosome Aberrations Before Onset of Detectable Neoplasia in Fanconi Anemia Bone Marrow.Cancers · 2025Article
- High Risk of Chronic Endometritis in Isthmocele-A Systematic Review and Meta-Analysis.Journal of clinical medicine · 2025Review
- From severe aplastic anemia with TERT variant to Wilson disease - associations or not.Annals of hematology · 2025Article
- Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.Annual review of pathology · 2025Review
- Inborn Errors of Immunity: New Insights.Acta medica academica · 2024Review
- PP2A licenses the FANCD2/FANCI complex for chromosome loading.Cell reports · 2024Article
- Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Multidisciplinary approaches to study anaemia with special mention on aplastic anaemia (Review).International journal of molecular medicine · 2024Review
- New Insights into the Fanconi Anemia Pathogenesis: A Crosstalk Between Inflammation and Oxidative Stress.International journal of molecular sciences · 2024Review
- Engineering single-cycle MeV vector for CRISPR-Cas9 gene editing.Molecular therapy. Methods & clinical development · 2024Article
- Severe Immune Thrombocytopenic Purpura in a Pediatric Patient With Fanconi Anemia: A Case Report.Cureus · 2024Article
- Aging, Cancer, and Inflammation: The Telomerase Connection.International journal of molecular sciences · 2024Review
- E3 ligases: a ubiquitous link between DNA repair, DNA replication and human disease.The Biochemical journal · 2024Review
- Fanconi Anemia in a 31-Year-Old Patient with Multiple Malignant Tumor Foci, Including Appendiceal Cancer, and Multiple Coexisting Pathologies.The American journal of case reports · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fanconi anemia is a genetic syndrome clinically characterized by congenital malformations that affect several human systems, leads to progressive bone marrow failure and predisposes an individual to cancer, particularly in the urogenital area as well as the head and neck. It is commonly caused by the biallelic compromise of one of 22 genes involved in the FA/BRCA repair pathway in most cases. The diagnosis is based on clinical suspicion and confirmation using genetic analysis, where the chromosomal breakage test is considered the gold standard. Other diagnostic methods used include western blotting, multiplex ligation-dependent probe amplification and next-generation sequencing. This genetic condition has variable expressiveness, which makes early diagnosis difficult in certain cases. Although early diagnosis does not currently allow for improved cure rates for this condition, it does enable healthcare professionals to perform a specific systematic follow-up and, if indicated, a bone marrow transplantation that improves the mobility and mortality of affected individuals. The present review article is a theoretical revision of the pathophysiology, clinical manifestations and diagnosis methods intended for different specialists and general practitioners to improve the diagnosis of this condition.
Indexed as
Identifiers
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.