Found: 27
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Chromosome Instability, Aging and Brain Diseases.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 5, p. 1256, doi. 10.3390/cells10051256
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- Publication type:
- Article
An Interstitial Deletion at 10q26.2q26.3.
- Published in:
- 2014
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- Publication type:
- Case Study
An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms.
- Published in:
- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/353028
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- Publication type:
- Article
Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 14, p. 2656, doi. 10.1093/hmg/ddp207
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- Publication type:
- Article
Mosaike im Gehirn des Menschen.
- Published in:
- Medizinische Genetik, 2014, v. 26, n. 3, p. 342, doi. 10.1007/s11825-014-0010-6
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- Publication type:
- Article
The Cytogenomic "Theory of Everything": Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8328, doi. 10.3390/ijms21218328
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- Publication type:
- Article
Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism.
- Published in:
- Genes, 2019, v. 10, n. 5, p. 379, doi. 10.3390/genes10050379
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- Publication type:
- Article
Genomic Landscape of the Alzheimer's Disease Brain: Chromosome Instability - Aneuploidy, but Not Tetraploidy - Mediates Neurodegeneration.
- Published in:
- Neurodegenerative Diseases, 2010, v. 8, n. 1/2, p. 35, doi. 10.1159/000315398
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- Publication type:
- Article
The Evolutionary Origin of Man Can Be Traced in the Layers of Defunct Ancestral Alpha Satellites Flanking the Active Centromeres of Human Chromosomes.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 9, p. 1, doi. 10.1371/journal.pgen.1000641
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- Publication type:
- Article
First case of del(1)(p36.2p33) in a fetus delivered stillborn.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 11, p. 1092, doi. 10.1002/pd.1571
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- Publication type:
- Article
Prenatal diagnosis of trisomy 21 using interphase fluorescence in situ hybridization of post-replicated cells with site-specific cosmid and cosmid contig probes.
- Published in:
- 1995
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- Publication type:
- journal article
Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism.
- Published in:
- International Journal of Genomics, 2015, v. 2015, p. 1, doi. 10.1155/2015/757680
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- Publication type:
- Article
Somatic mosaicism in the diseased brain.
- Published in:
- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00624-y
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- Publication type:
- Article
Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis.
- Published in:
- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00588-z
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- Publication type:
- Article
Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis.
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- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00529-2
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- Publication type:
- Article
In silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 143, doi. 10.1186/s13039-014-0098-z
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- Publication type:
- Article
X chromosome aneuploidy in the Alzheimer's disease brain.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8166-7-20
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- Publication type:
- Article
Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease.
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- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-53
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- Publication type:
- Article
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 46, doi. 10.1186/1755-8166-5-46
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- Publication type:
- Article
Human interphase chromosomes: a review of available molecular cytogenetic technologies.
- Published in:
- Molecular Cytogenetics (17558166), 2010, v. 3, p. 1, doi. 10.1186/1755-8166-3-1
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- Publication type:
- Article
Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00488-0
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- Publication type:
- Article
Laundering CNV data for candidate process prioritization in brain disorders.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0468-7
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- Publication type:
- Article
The variome concept: focus on CNVariome.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0467-8
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- Publication type:
- Article
Pathway-based classification of genetic diseases.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0418-4
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- Publication type:
- Article
VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia.
- Published in:
- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0412-2
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- Publication type:
- Article
3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0185-9
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- Publication type:
- Article
Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, p. 2, doi. 10.1186/s13039-015-0182-z
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- Publication type:
- Article