ArticleCurrent genomics2010
Molecular cytogenetic diagnosis and somatic genome variations.
Article in Current genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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
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Who cites it
24 citing papers in PubMed, 61 citations in OpenAlex.
- A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.Scientific reports · 2024Article
- Quantitative FISHing: Implications for Chromosomal Analysis.Methods in molecular biology (Clifton, N.J.) · 2024Article
- A Paradoxical Role for Somatic Chromosomal Mosaicism and Chromosome Instability in Cancer: Theoretical and Technological Aspects.Methods in molecular biology (Clifton, N.J.) · 2024Review
- Cytogenomic epileptology.Molecular cytogenetics · 2023Review
- Somatic mosaicism in the diseased brain.Molecular cytogenetics · 2022Review
- Svetlana G. Vorsanova (1945-2021).Molecular cytogenetics · 2022Article
- Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis.Molecular cytogenetics · 2022Article
- The Cytogenomic "Theory of Everything": Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging.International journal of molecular sciences · 2020Article
- Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging.Molecular cytogenetics · 2020Article
- Investigation of Aneusomy of Chromosome 21 in the Micronuclei of 13 Patients with Early Onset Alzheimer's Disease Using Fluorescence in Situ Hybridization: A Pilot Study.Reports of biochemistry & molecular biology · 2020Article
- Review
- Article
- Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil.BMC medical genomics · 2019Article
- Behavioral Variability and Somatic Mosaicism: A Cytogenomic Hypothesis.Current genomics · 2018Review
- Mosaic Brain Aneuploidy in Mental Illnesses: An Association of Low-level Post-zygotic Aneuploidy with Schizophrenia and Comorbid Psychiatric Disorders.Current genomics · 2018Review
- 4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects.Current genomics · 2018Review
- Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism.International journal of genomics · 2015Article
- 5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy.SpringerPlus · 2015Article
- 3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances.Molecular cytogenetics · 2015Article
- Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.Molecular cytogenetics · 2015Article
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 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human molecular cytogenetics integrates the knowledge on chromosome and genome organization at the molecular and cellular levels in health and disease. Molecular cytogenetic diagnosis is an integral part of current genomic medicine and is the standard of care in medical genetics and cytogenetics, reproductive medicine, pediatrics, neuropsychiatry and oncology. Regardless numerous advances in this field made throughout the last two decades, researchers and practitioners who apply molecular cytogenetic techniques may encounter several problems that are extremely difficult to solve. One of them is undoubtedly the occurrence of somatic genome and chromosome variations, leading to genomic and chromosomal mosaicism, which are related but not limited to technological and evaluative limitations as well as multiplicity of interpretations. More dramatically, current biomedical literature almost lacks descriptions, guidelines or solutions of these problems. The present article overviews all these problems and gathers those exclusive data acquired from studies of genome and chromosome instability that is relevant to identification and interpretations of this fairly common cause of somatic genomic variations and chromosomal mosaicism. Although the way to define pathogenic value of all the intercellular variations of the human genome is far from being completely understood, it is possible to propose recommendations on molecular cytogenetic diagnosis and management of somatic genome variations in clinical population.
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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.