Cargando…

Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy

BACKGROUND: Long contiguous stretches of homozygosity (LCSH) (regions/runs of homozygosity) are repeatedly detected by single-nucleotide polymorphism (SNP) chromosomal microarrays. Providing important clues regarding parental relatedness (consanguinity), uniparental disomy, chromosomal recombination...

Descripción completa

Detalles Bibliográficos
Autores principales:	Iourov, Ivan Y., Vorsanova, Svetlana G., Korostelev, Sergei A., Zelenova, Maria A., Yurov, Yuri B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608298/ https://www.ncbi.nlm.nih.gov/pubmed/26478745 http://dx.doi.org/10.1186/s13039-015-0182-z

Ejemplares similares

Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies
por: Iourov, Ivan Y, et al.
Publicado: (2012)

Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism
por: Iourov, Ivan Y., et al.
Publicado: (2015)

Behavioral Variability and Somatic Mosaicism: A Cytogenomic Hypothesis
por: Vorsanova, Svetlana G., et al.
Publicado: (2018)

Laundering CNV data for candidate process prioritization in brain disorders
por: Zelenova, Maria A., et al.
Publicado: (2019)

An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms
por: Iourov, Ivan Y., et al.
Publicado: (2013)

4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects
por: Iourov, Ivan Y., et al.
Publicado: (2018)

The Cytogenomic “Theory of Everything”: Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging
por: Iourov, Ivan Y., et al.
Publicado: (2020)

Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism
por: Iourov, Ivan Y., et al.
Publicado: (2019)

Chromosome Instability, Aging and Brain Diseases
por: Iourov, Ivan Y., et al.
Publicado: (2021)

Chromosomal mosaicism goes global
por: Iourov, Ivan Y, et al.
Publicado: (2008)

The DNA Replication Stress Hypothesis of Alzheimer's Disease
por: Yurov, Yuri B., et al.
Publicado: (2012)

Human interphase chromosomes: a review of available molecular cytogenetic technologies
por: Vorsanova, Svetlana G, et al.
Publicado: (2010)

GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny
por: Yurov, Yuri B, et al.
Publicado: (2009)

Single Cell Genomics of the Brain: Focus on Neuronal Diversity and Neuropsychiatric Diseases
por: Iourov, Ivan Y, et al.
Publicado: (2012)

In silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research
por: Iourov, Ivan Y, et al.
Publicado: (2014)

Pathway-based classification of genetic diseases
por: Iourov, Ivan Y., et al.
Publicado: (2019)

Chromosome Instability in the Neurodegenerating Brain
por: Yurov, Yuri B., et al.
Publicado: (2019)

The variome concept: focus on CNVariome
por: Iourov, Ivan Y., et al.
Publicado: (2019)

Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging
por: Vorsanova, Svetlana G., et al.
Publicado: (2020)

Systems Cytogenomics: Are We Ready Yet?
por: Iourov, Ivan Y., et al.
Publicado: (2021)

Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease
por: Iourov, Ivan Y, et al.
Publicado: (2013)

Somatic mosaicism in the diseased brain
por: Iourov, Ivan Y., et al.
Publicado: (2022)

An Interstitial Deletion at 10q26.2q26.3
por: Iourov, Ivan Y., et al.
Publicado: (2014)

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia
por: Iourov, Ivan Y., et al.
Publicado: (2018)

Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil
por: Chaves, Tiago Fernando, et al.
Publicado: (2019)

3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances
por: Iourov, Ivan Y., et al.
Publicado: (2015)

A new open access journal for a rapidly evolving biomedical field: introducing Molecular Cytogenetics
por: Yurov, Yuri B, et al.
Publicado: (2008)

X chromosome aneuploidy in the Alzheimer’s disease brain
por: Yurov, Yuri B, et al.
Publicado: (2014)

Ataxia-telangiectasia paradoxes: spotlight on post-zygotic chromosome instability in the brain and its contribution to neurodegeneration pathways
por: Yurov, Yuri, et al.
Publicado: (2013)

5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy
por: Iourov, Ivan Y., et al.
Publicado: (2015)

Somatic Genome Variations in Health and Disease
por: Iourov, I.Y., et al.
Publicado: (2010)

Ontogenetic Variation of the Human Genome
por: Yurov, Y.B., et al.
Publicado: (2010)

Molecular Cytogenetics and Cytogenomics of Brain Diseases
por: Iourov, I.Y, et al.
Publicado: (2008)

Mosaic Brain Aneuploidy in Mental Illnesses: An Association of Low-level Post-zygotic Aneuploidy with Schizophrenia and Comorbid Psychiatric Disorders
por: Yurov, Yuri B., et al.
Publicado: (2018)

Aneuploidy-driven non-heritable genomic variations demonstrate area-specific distribution in the Alzheimer’s disease brain
por: lourov, Ivan, et al.
Publicado: (2013)

Molecular Cytogenetic Diagnosis and Somatic Genome Variations
por: Vorsanova, S.G, et al.
Publicado: (2010)

hzAnalyzer: detection, quantification, and visualization of contiguous homozygosity in high-density genotyping datasets
por: Johnson, Todd A, et al.
Publicado: (2011)

Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis
por: Vorsanova, Svetlana G., et al.
Publicado: (2022)

Turner’s syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis
por: Vorsanova, Svetlana G., et al.
Publicado: (2021)

A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature
por: Mellone, Simona, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_l3vp8b8ltnfng1117o23odslj1