ReviewHuman genetics2009
Molecular genetic analysis of Down syndrome.
Review in Human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05056285 (Pattern of Growth and Characteristics of Down Syndrome Pediatrics Patients Attending Assuit University Children Hospital), which is not on this map. Cited by 104 papers, 2 of them syntheses 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.
Pattern of Growth and Characteristics of Down Syndrome Pediatrics Patients Attending Assuit University Children Hospital
Who cites it
104 citing papers in PubMed, 2 syntheses or guidelines pooled it, 275 citations in OpenAlex.
- Pooled it
- Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.Human molecular genetics · 2016Pooled it
- Malocclusion and orthodontic treatment needs among individuals with down syndrome in Egypt: a multicentre cross-sectional study.BMC oral health · 2026Observational
- Multiomics and proteomic insights into Alzheimer's disease biology in Down syndrome.Expert review of neurotherapeutics · 2026Review
- Dysregulated calcium signaling underlies hyposalivation and microbial dysbiosis in Down syndrome.Cell reports · 2026Article
- Article
- Total and live birth prevalence of singleton pregnancies with Down's syndrome in Scotland between 2000 and 2021: a population-based study.The Lancet regional health. Europe · 2026Article
- miRNAs mediated Hsa21 gene suppression as potential therapeutic agent for Down syndrome: molecular dynamics and MM/PBSA-based study.Journal of molecular modeling · 2026Article
- Anthropometric and metabolic assessment in adults with Down syndrome: the need for novel indices and tailored criteria.Turkish journal of medical sciences · 2025Article
- ChromTR: chromosome detection in raw metaphase cell images via deformable transformers.Frontiers of medicine · 2024Article
- Chromosomal instability: a key driver in glioma pathogenesis and progression.European journal of medical research · 2024Review
- Altered Brain Cholesterol Machinery in a Down Syndrome Mouse Model: A Possible Common Feature with Alzheimer's Disease.Antioxidants (Basel, Switzerland) · 2024Article
- Cardiac Complications in Trisomy 21 Patients in a Secondary Hospital: A Descriptive Study.Cureus · 2024Article
- Pragmatic competence in people with dual diagnosis: down syndrome and autism spectrum disorder.BMC psychology · 2024Article
- An automatic progressive chromosome segmentation approach using deep learning with traditional image processing.Medical & biological engineering & computing · 2024Article
- Molecular Mechanisms Involved in the Regulation of Neurodevelopment by miR-124.Molecular neurobiology · 2023Review
- Orofacial findings and orthodontic treatment conditions in patients with down syndrome - a retrospective investigation.Head & face medicine · 2023Article
- Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population.Scientific reports · 2023Article
- Dohsa-hou training improves bimanual coordination among children with Down Syndrome.International journal of developmental disabilities · 2023Article
- Overexpression ofCells · 2022Article
44 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Down syndrome (DS) is caused by trisomy of all or part of human chromosome 21 (HSA21) and is the most common genetic cause of significant intellectual disability. In addition to intellectual disability, many other health problems, such as congenital heart disease, Alzheimer's disease, leukemia, hypotonia, motor disorders, and various physical anomalies occur at an elevated frequency in people with DS. On the other hand, people with DS seem to be at a decreased risk of certain cancers and perhaps of atherosclerosis. There is wide variability in the phenotypes associated with DS. Although ultimately the phenotypes of DS must be due to trisomy of HSA21, the genetic mechanisms by which the phenotypes arise are not understood. The recent recognition that there are many genetically active elements that do not encode proteins makes the situation more complex. Additional complexity may exist due to possible epigenetic changes that may act differently in DS. Numerous mouse models with features reminiscent of those seen in individuals with DS have been produced and studied in some depth, and these have added considerable insight into possible genetic mechanisms behind some of the phenotypes. These mouse models allow experimental approaches, including attempts at therapy, that are not possible in humans. Progress in understanding the genetic mechanisms by which trisomy of HSA21 leads to DS is the subject of this review.
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.