ReviewJournal of medical genetics2000
Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.
Review in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 295 citations in OpenAlex.
- American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation.Genetics in medicine : official journal of the American College of Medical GeneticsGuideline
- Identification of embryonic chromosomal abnormality using FISH-based preimplantation genetic diagnosis.Journal of Zhejiang University. Science · 2004Trial
- Epigenetic and evolutionary features of ape subterminal heterochromatin.bioRxiv : the preprint server for biology · 2025Article
- Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing.NPJ genomic medicine · 2025Article
- An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia.Human genetics · 2022Article
- Subtelomeric Rearrangements in Patients with Recurrent Miscarriage.International journal of fertility & sterility · 2018Article
- Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescenceThe Indian journal of medical research · 2016Article
- Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations.Journal of applied genetics · 2016Review
- Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.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
- "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.Molecular cytogenetics · 2012Article
- De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation.Molecular cytogenetics · 2011Article
- Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.PLoS genetics · 2011Article
- FISH for pre-implantation genetic diagnosis.Journal of visualized experiments : JoVE · 2011Article
- Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.American journal of medical genetics. Part A · 2010Article
- Rapid expansion and functional divergence of subtelomeric gene families in yeasts.Current biology : CB · 2010Article
- Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: introduction.The Canadian journal of cardiology · 2010Article
- Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.Italian journal of pediatrics · 2009Article
- Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.Molecular cytogenetics · 2009Article
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosomal rearrangements involving the ends of chromosomes (telomeres) are emerging as an important cause of human genetic diseases. This review describes the development of first and second generation sets of telomere specific clones, together with advances in fluorescence in situ hybridisation (FISH) technology, which have made the prospect of screening for telomeric rearrangements a realistic goal. Initial FISH studies using the telomere specific clones indicate that they will be a valuable diagnostic tool for the investigation of mental retardation, the characterisation of known abnormalities detected by conventional cytogenetic analysis, spontaneous recurrent miscarriages, infertility, haematological malignancies, and preimplantation diagnosis, as well as other fields of clinical interest. In addition, they may help investigate telomere structure and function and can be used in the identification of dosage sensitive genes involved in human genetic disease.
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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.