ReviewIranian journal of pediatrics2013
An overview of mutation detection methods in genetic disorders.
Review in Iranian journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 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
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Accuracy of the molecular diagnosis of duchenne and becker muscular dystrophy: A systematic review with meta-analysis.PloS one · 2026Pooled it
- Genetic services in Pakistan: a review highlighting limitations and opportunities for improvement.Journal of community genetics · 2026Article
- Flemboda artificial intelligence: hybrid fuzzy-convolutional neural network for efficient chromosome abnormality classification.Molecular genetics and genomics : MGG · 2026Article
- BioMutation: a portable graphical user interface for mutagenesis and feature analysis in proteins, nucleic acids, and their complexes.Frontiers in genetics · 2026Article
- Effects of Genetic polymorphism in susceptibility to schistosomiasis infection and adverse treatment outcomes.African health sciences · 2025Review
- Single nucleotide polymorphisms on Cholecystokinin B Receptor gene as a candidate gene for crowing in Pelung chickens.Journal of advanced veterinary and animal research · 2025Article
- Unraveling Dysregulated Cell Signaling Pathways, Genetic and Epigenetic Mysteries of Parkinson's Disease.Molecular neurobiology · 2024Review
- Evaluation of DNA minicircles for delivery of adenine and cytosine base editors using activatable gene on "GO" reporter imaging systems.Molecular therapy. Nucleic acids · 2024Article
- Systematic analysis and evaluation of chromosome aberrations in major birth defects associated with infertility.Intractable & rare diseases research · 2024Article
- A Review of the Common Neurodegenerative Disorders: Current Therapeutic Approaches and the Potential Role of Bioactive Peptides.Current protein & peptide science · 2024Review
- New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples.Scientific reports · 2023Article
- Recent advancements in enzyme-incorporated nanomaterials: Synthesis, mechanistic formation, and applications.Biotechnology and bioengineering · 2022Review
- Article
- Recent advances in gold nanoparticle-based lateral flow immunoassay for the detection of bacterial infection.Archives of microbiology · 2021Review
- Review
- A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.International journal of molecular sciences · 2020Article
- Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.Journal of assisted reproduction and genetics · 2020Article
- Preserving Single Cells in Space and Time for Analytical Assays.Trends in analytical chemistry : TRAC · 2020Article
- Electrochemical selection of a DNA aptamer, and an impedimetric method for determination of the dedicator of cytokinesis 8 by self-assembly of a thiolated aptamer on a gold electrode.Mikrochimica acta · 2019Article
- Analysis of KRAS gene mutation associated withIranian journal of basic medical sciences · 2019Article
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
genetic disorders are traditionally categorized into three main groupssingle-gene, chromosomal, and multifactorial disorders. Single gene or Mendelian disorders result from errors in DNA sequence of a gene and include autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XR), X-linked dominant and Y-linked (holandric) disorders. Chromosomal disorders are due to chromosomal aberrations including numerical and structural damages. Molecular and cytogenetic techniques have been applied to identify genetic mutations leading to diseases. Accurate diagnosis of diseases is essential for appropriate treatment of patients, genetic counseling and prevention strategies. Characteristic features of patterns of inheritance are briefly reviewed and a short description of chromosomal disorders is also presented. In addition, applications of cytogenetic and molecular techniques and different types of mutations are discussed for genetic diagnosis of the pediatric genetic diseases. The purpose is to make pediatricians familiar with the applications of cytogenetic and molecular techniques and tools used for genetic diagnosis.
Indexed as
Identifiers
24427490PMC3883366W1844268964What 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.