ReviewJournal of medical genetics2003
Telomeres: a diagnosis at the end of the chromosomes.
Review in Journal of medical genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
49 citing papers in PubMed.
- Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype.Prenatal diagnosis · 2009Trial
- Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.Journal of pediatric genetics · 2024Article
- The Genetics of Intellectual Disability.Brain sciences · 2023Review
- Review
- Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly.Nature communications · 2020Article
- TASks for subtelomeres: when nucleosome loss and genome instability are favored.Current genetics · 2019Review
- A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.Scientific reports · 2018Article
- Subtelomeric Rearrangements in Patients with Recurrent Miscarriage.International journal of fertility & sterility · 2018Article
- CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.European journal of human genetics : EJHG · 2018Article
- Subtelomeres constitute a safeguard for gene expression and chromosome homeostasis.Nucleic acids research · 2017Article
- Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.Clinics (Sao Paulo, Brazil) · 2017Article
- Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation.Journal of pediatric genetics · 2017Article
- Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescenceThe Indian journal of medical research · 2016Article
- Evolution of genetic techniques: past, present, and beyond.BioMed research international · 2015Review
- Approach to the diagnosis of developmental delay - the changing scenario.The Indian journal of medical research · 2014Article
- Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.Indian journal of human genetics · 2013Article
- Absence of subtelomeric rearrangements in selected patients with mental retardation as assessed by multiprobe T FISH.Journal of negative results in biomedicine · 2012Article
- Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3).Molecular syndromology · 2012Article
- The phenotype of recurrent 10q22q23 deletions and duplications.European journal of human genetics : EJHG · 2011Article
- The use of array-CGH in a cohort of Greek children with developmental delay.Molecular cytogenetics · 2010Article
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In recent years, subtelomeric rearrangements have been identified as a major cause of mental retardation and/or malformation syndromes. So far, over 2500 subjects with mental retardation have been tested and reported of whom approximately 5% appeared to have a subtelomeric rearrangement. In this review, the clinical aspects of each known (submicroscopic) subtelomeric deletion will be presented and the various methods available for detecting subtelomeric abnormalities will be discussed. Not only will the patients and their families benefit from a good collection and report of the various telomeric abnormalities and their clinical phenotype, but it will also give more insight into the aetiology of mental retardation and malformation syndromes.
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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 OpenQuestion graph.