Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism

Nonclonal Chromosome Aberrations and Genome Chaos in Somatic and Germ Cells from Patients and Survivors of Hodgkin Lymphoma

(2019) Sara Frias et al.   Genes

The Impact of Heterogeneity on Single-Cell Sequencing

(2019) Samantha L. Goldman et al.   Frontiers in Genetics

Pathway-based classification of genetic diseases

(2019) Ivan Y. Iourov et al.   Molecular Cytogenetics

Neurons with Complex Karyotypes Are Rare in Aged Human Neocortex

(2019) William D. Chronister et al.   Cell Reports

Are all chromosome microarrays the same? What clinicians need to know

(2019) Brynn Levy et al.   PRENATAL DIAGNOSIS

Mosaicism, aging and cancer

(2019) Mitchell J. Machiela   CURRENT OPINION IN ONCOLOGY

Pallister-Killian syndrome: Review of fetal phenotype

(2018) S. Thakur et al.   CLINICAL GENETICS

A Postgenomic Perspective on Molecular Cytogenetics

(2018) Henry H. Heng et al.   CURRENT GENOMICS

Detecting Chromosome Condensation Defects in Gulf War Illness Patients

(2018) Guo Liu et al.   CURRENT GENOMICS

Behavioral Variability and Somatic Mosaicism: A Cytogenomic Hypothesis

(2018) Svetlana G. Vorsanova et al.   CURRENT GENOMICS

Mosaic Brain Aneuploidy in Mental Illnesses: An Association of Low-level post-zygotic Aneuploidy with Schizophrenia and Comorbid Psychiatric Disorders

(2018) Yuri B. Yurov et al.   CURRENT GENOMICS

Genomic mosaicism in the developing and adult brain

(2018) Suzanne Rohrback et al.   Developmental Neurobiology

Prenatal detection of trisomy 8 mosaicism: Pregnancy outcome and follow up of a series of 17 consecutive cases

(2018) Matteo Cassina et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

The impact of mitotic errors on cell proliferation and tumorigenesis

(2018) Michelle S. Levine et al.   GENES & DEVELOPMENT

Aneuploidy: Cancer strength or vulnerability?

(2018) Giorgia Simonetti et al.   INTERNATIONAL JOURNAL OF CANCER

Mitotic defects lead to neuronal aneuploidy and apoptosis in frontotemporal lobar degeneration caused by MAPT mutations

(2018) Julbert Caneus et al.   MOLECULAR BIOLOGY OF THE CELL

Review: Somatic mutations in neurodegeneration

(2018) M. Leija-Salazar et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

(2018) Tamar Green et al.   NEUROPSYCHOPHARMACOLOGY

Region- and Cell-specific Aneuploidy in Brain Aging and Neurodegeneration

(2018) C.E. Shepherd et al.   NEUROSCIENCE

Confined placental mosaicism revisited: Impact on pregnancy characteristics and outcome

(2018) Jérôme Toutain et al.   PLoS One

Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies

(2018) Qiping Hu et al.   Molecular Cytogenetics

Understanding aneuploidy in cancer through the lens of system inheritance, fuzzy inheritance and emergence of new genome systems

(2018) Christine J. Ye et al.   Molecular Cytogenetics

Aging and the rise of somatic cancer-associated mutations in normal tissues

(2018) Rosa Ana Risques et al.   PLoS Genetics

Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain

(2018) Darine Villela et al.   NEURAL PLASTICITY

Somatic Mutagenesis in Mammals and Its Implications for Human Disease and Aging

(2018) Lei Zhang et al.   Annual Review of Genetics

Congenital eye anomalies: More mosaic than thought?

(2018) Hideyo Ohuchi et al.   CONGENITAL ANOMALIES

Mosaic Turner syndrome shows reduced penetrance in an adult population study

(2018) Marcus A. Tuke et al.   GENETICS IN MEDICINE

Somatic Mutation in Pediatric Neurological Diseases

(2018) Rachel E. Rodin et al.   PEDIATRIC NEUROLOGY

Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice

(2018) Junhui Wan et al.   PRENATAL DIAGNOSIS

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

(2018) Birsen Karaman et al.   Molecular Cytogenetics

De novo unbalanced translocations have a complex history/aetiology

(2018) Maria Clara Bonaglia et al.   HUMAN GENETICS

Somatic APP gene recombination in Alzheimer’s disease and normal neurons

(2018) Ming-Hsiang Lee et al.   NATURE

The diverse consequences of aneuploidy

(2018) Narendra Kumar Chunduri et al.   NATURE CELL BIOLOGY

Somatic mosaicism and neurodevelopmental disease

(2018) Alissa M. D’Gama et al.   NATURE NEUROSCIENCE

Genome instability: a conserved mechanism of ageing?

(2017) Jan Vijg et al.   Essays in Biochemistry

Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes?

(2017) Teresa N. Sparks et al.   GENETICS IN MEDICINE

Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations

(2017) Yanmei Dou et al.   HUMAN MUTATION

The incidence and origin of segmental aneuploidy in human oocytes and preimplantation embryos

(2017) D Babariya et al.   HUMAN REPRODUCTION

Is sporadic Alzheimer′s disease a developmental disorder?

(2017) Thomas Arendt et al.   JOURNAL OF NEUROCHEMISTRY

Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain

(2017) Grasiella A. Andriani et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Genome instability in Alzheimer disease

(2017) Yujun Hou et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Genetics and epigenetics of autism: A Review

(2017) Mary M. Y. Waye et al.   PSYCHIATRY AND CLINICAL NEUROSCIENCES

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

(2017) Michael J. McConnell et al.   SCIENCE

Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm

(2017) Rajiv C. McCoy   TRENDS IN GENETICS

Causes and consequences of chromosome segregation error in preimplantation embryos

(2017) Cayetana Vázquez-Diez et al.   REPRODUCTION

Trisomy 3 mosaicism in a 5-year-old boy with multiple anomalies: A very rare case

(2016) Yong-jia Yang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Trisomy 4 mosaicism: Delineation of the phenotype

(2016) Arjan Bouman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Chromosomal instability: A common feature and a therapeutic target of cancer

(2016) Kozo Tanaka et al.   BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER

A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype

(2016) Mariana Kekis et al.   European Journal of Medical Genetics

Aneuploidy and asynchronous replication in non-alcholic fatty liver disease and cryptogenic cirrhosis

(2016) Ido Laish et al.   GENE

Survival and Surgical Interventions for Children With Trisomy 13 and 18

(2016) Katherine E. Nelson et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Autism spectrum disorders: Integration of the genome, transcriptome and the environment

(2016) N. Thushara Vijayakumar et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Down syndrome and the complexity of genome dosage imbalance

(2016) Stylianos E. Antonarakis   NATURE REVIEWS GENETICS

The landscape of somatic mutations in protein coding genes in apparently benign human tissues carries signatures of relaxed purifying selection

(2016) Vinod Kumar Yadav et al.   NUCLEIC ACIDS RESEARCH

Cancer heterogeneity is not compatible with one unique cancer cell metabolic map

(2016) A Strickaert et al.   ONCOGENE

Ataxia telangiectasia: a review

(2016) Cynthia Rothblum-Oviatt et al.   Orphanet Journal of Rare Diseases

Chromosomal anomalies in early spontaneous abortions: interphase FISH analysis on 855 FFPE first trimester abortions

(2016) Rosa Russo et al.   PRENATAL DIAGNOSIS

Genomic instability in the brain: chromosomal mosaicism in schizophrenia

(2016) Y. B. Yurov et al.   Zhurnal Nevrologii I Psikhiatrii imeni S S Korsakova

Natural Selection in Cancer Biology: From Molecular Snowflakes to Trait Hallmarks

(2016) Angelo Fortunato et al.   Cold Spring Harbor Perspectives in Medicine

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability

(2016) Shujie Zhang et al.   Molecular Cytogenetics

Regional mosaic genomic heterogeneity in the elderly and in Alzheimer’s disease as a correlate of neuronal vulnerability

(2015) Thomas Arendt et al.   ACTA NEUROPATHOLOGICA

Mosaic trisomy 15 in a liveborn infant

(2015) Jacob McPadden et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Twenty-five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status

(2015) Deborah A. Bruns et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

How to count chromosomes in a cell: An overview of current and novel technologies

(2015) Bjorn Bakker et al.   BIOESSAYS

Alterations of the X Chromosome in Lymphocytes of Alzheimer’s Disease Patients

(2015) Biljana Spremo-Potparevic et al.   Current Alzheimer Research

Role of Trisomy 21 Mosaicism in Sporadic and Familial Alzheimer's Disease

(2015) Huntington Potter et al.   Current Alzheimer Research

DNA damage in neurodegenerative diseases

(2015) Fabio Coppedè et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

Short- and long-term effects of chromosome mis-segregation and aneuploidy

(2015) Stefano Santaguida et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Genomic integrity and the ageing brain

(2015) Hei-man Chow et al.   NATURE REVIEWS NEUROSCIENCE

Aneuploidy in Lewy body diseases

(2015) Yue Yang et al.   NEUROBIOLOGY OF AGING

Cohesion and the aneuploid phenotype in Alzheimer's disease: A tale of genome instability

(2015) Vladan Bajic et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Somatic mosaicism: implications for disease and transmission genetics

(2015) Ian M. Campbell et al.   TRENDS IN GENETICS

Mosaicism and uniparental disomy in prenatal diagnosis

(2015) Thomas Eggermann et al.   TRENDS IN MOLECULAR MEDICINE

Prediction model for aneuploidy in early human embryo development revealed by single-cell analysis

(2015) Maria Vera-Rodriguez et al.   Nature Communications

Assessment of copy number variations in the brain genome of schizophrenia patients

(2015) Miwako Sakai et al.   Molecular Cytogenetics

History and evolution of cytogenetics

(2015) Malcolm A Ferguson-Smith   Molecular Cytogenetics

Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer's disease brains

(2015) Diane M Bushman et al.   eLife

Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism

(2015) Ivan Y. Iourov et al.   International Journal of Genomics

5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy

(2015) Ivan Y. Iourov et al.   SpringerPlus

Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum

(2014) Fatma Abdelhedi et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mosaicism for trisomy 21: A review

(2014) Paulie Papavassiliou et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Every Cell Is Special: Genome-wide Studies Add a New Dimension to Single-Cell Biology

(2014) Jan Philipp Junker et al.   CELL

Somatic mutations, genome mosaicism, cancer and aging

(2014) Jan Vijg   CURRENT OPINION IN GENETICS & DEVELOPMENT

Aneuploidy: implications for protein homeostasis and disease

(2014) A. B. Oromendia et al.   Disease Models & Mechanisms

Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss

(2014) Ernest B. Hook et al.   HUMAN GENETICS

The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans

(2014) Tyl H. Taylor et al.   HUMAN REPRODUCTION UPDATE

Mosaike im Gehirn des Menschen

(2014) Ivan Y. Iourov et al.   Medizinische Genetik

Single cell sequencing reveals low levels of aneuploidy across mammalian tissues

(2014) Kristin A. Knouse et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Aurea Mediocritas: The Importance of a Balanced Genome

(2014) G. Varetti et al.   Cold Spring Harbor Perspectives in Biology

Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis

(2014) Consuelo Salas-Labadía et al.   Molecular Cytogenetics

In silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research

(2014) Ivan Y Iourov et al.   Molecular Cytogenetics

X chromosome aneuploidy in the Alzheimer’s disease brain

(2014) Yuri B Yurov et al.   Molecular Cytogenetics

Stress, genomic adaptation, and the evolutionary trade-off

(2014) Steven D. Horne et al.   Frontiers in Genetics

Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

(2014) Francesca Grati   Journal of Clinical Medicine

The versatile functions of ATM kinase

(2014) Bo Xu et al.   Biomedical Journal

Another Rare Prenatal Case of Post-Zygotic Mosaic Trisomy 17

(2013) Femke A.T. de Vries et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature

(2013) Dalal Abdelgadir et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Polyploidization in Liver Tissue

(2013) Géraldine Gentric et al.   AMERICAN JOURNAL OF PATHOLOGY

Causes of Genome Instability

(2013) Andrés Aguilera et al.   Annual Review of Genetics

Chromosomal instability (CIN): what it is and why it is crucial to cancer evolution

(2013) Henry H. Heng et al.   CANCER AND METASTASIS REVIEWS

Single cell heterogeneity

(2013) Batoul Y Abdallah et al.   CELL CYCLE

Trisomy 21 Mosaicism: We May All Have a Touch of Down Syndrome

(2013) M.A. Hultén et al.   CYTOGENETIC AND GENOME RESEARCH

Somatic Cell Genomics of Brain Disorders: A New Opportunity to Clarify Genetic-Environmental Interactions

(2013) I.Y. Iourov et al.   CYTOGENETIC AND GENOME RESEARCH

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Mitotic Spindle Defects and Chromosome Mis-Segregation Induced by LDL/Cholesterol—Implications for Niemann-Pick C1, Alzheimer’s Disease, and Atherosclerosis

(2013) Antoneta Granic et al.   PLoS One

Mosaic Copy Number Variation in Human Neurons

(2013) M. J. McConnell et al.   SCIENCE

The genomically mosaic brain: Aneuploidy and more in neural diversity and disease

(2013) Diane M. Bushman et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Changes in neuronal DNA content variation in the human brain during aging

(2012) Hans-Georg Fischer et al.   AGING CELL

Behavior genetics and postgenomics

(2012) Evan Charney   BEHAVIORAL AND BRAIN SCIENCES

Genetics of early miscarriage

(2012) Merel M.J. van den Berg et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Molecular origin of mitotic aneuploidies in preimplantation embryos

(2012) Eleni Mantikou et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Single Cell Genomics of the Brain: Focus on Neuronal Diversity and Neuropsychiatric Diseases

(2012) Ivan Y Iourov et al.   CURRENT GENOMICS

Molecular and Clinical Characteristics of 26 Cases with Structural Y Chromosome Aberrations

(2012) J.-W. Kim et al.   CYTOGENETIC AND GENOME RESEARCH

Chromosome-specific accumulation of aneuploidy in the aging mouse brain

(2012) Francesca Faggioli et al.   HUMAN MOLECULAR GENETICS

Aneuploid Cells Are Differentially Susceptible to Caspase-Mediated Death during Embryonic Cerebral Cortical Development

(2012) S. E. Peterson et al.   JOURNAL OF NEUROSCIENCE

Cell Cycle Activation and Aneuploid Neurons in Alzheimer's Disease

(2012) Thomas Arendt   MOLECULAR NEUROBIOLOGY

Human aneuploidy: mechanisms and new insights into an age-old problem

(2012) So I. Nagaoka et al.   NATURE REVIEWS GENETICS

Bioinformatic identification of genes suppressing genome instability

(2012) C. D. Putnam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The DNA Replication Stress Hypothesis of Alzheimer’s Disease

(2012) Yuri B. Yurov et al.   TheScientificWorldJOURNAL

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia

(2011) Paolo Prontera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Constitutional and Acquired Autosomal Aneuploidy

(2011) Colleen Jackson-Cook   CLINICS IN LABORATORY MEDICINE

Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research

(2011) R. Hochstenbach et al.   CYTOGENETIC AND GENOME RESEARCH

Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts

(2011) Danielle Veenma et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The X chromosome and immune associated genes

(2011) Ilaria Bianchi et al.   JOURNAL OF AUTOIMMUNITY

Chromosomal aneuploidy in the aging brain

(2011) Francesca Faggioli et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Somatic mutations in aging, cancer and neurodegeneration

(2011) Scott R. Kennedy et al.   MECHANISMS OF AGEING AND DEVELOPMENT

DNA repair deficiency in neurodegeneration

(2011) Dennis Kjølhede Jeppesen et al.   PROGRESS IN NEUROBIOLOGY

Low-level X chromosome mosaicism in women with sporadic premature ovarian failure

(2011) K. Gersak et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Somatic mosaicism in healthy human tissues

(2011) Subhajyoti De   TRENDS IN GENETICS

Trisomy 18 mosaicism: report of two cases

(2011) Siddharth Banka et al.   World Journal of Pediatrics

Understanding the link between cancer and neurodegeneration

(2011) Jane A. Driver   Journal of Geriatric Oncology

Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

(2010) Benjamín Rodríguez-Santiago et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Selective Cell Death of Hyperploid Neurons in Alzheimer’s Disease

(2010) Thomas Arendt et al.   AMERICAN JOURNAL OF PATHOLOGY

Mosaic trisomy 11 in a fetus with bilateral renal agenesis

(2010) Meena Balasubramanian et al.   CLINICAL DYSMORPHOLOGY

Trisomy 1 mosaicism only detected on a direct chromosome preparation in a neonate

(2010) P. J. Howard et al.   CLINICAL GENETICS

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome

(2010) F Petit et al.   CLINICAL GENETICS

Are we Genomic Mosaics? Variations of the Genome of Somatic Cells can Contribute to Diversify our Phenotypes

(2010) P. Astolfi et al.   CURRENT GENOMICS

Somatic Genomic Variations in Early Human Prenatal Development

(2010) Caroline Robberecht et al.   CURRENT GENOMICS

Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?

(2010) Maj Hulten et al.   CURRENT GENOMICS

Genomic and Epigenomic Instability, Fragile Sites, Schizophrenia and Autism

(2010) Cassandra Smith et al.   CURRENT GENOMICS

Somatic Genome Variations in Health and Disease

(2010) I. Iourov et al.   CURRENT GENOMICS

Ontogenetic Variation of the Human Genome

(2010) Y. Yurov et al.   CURRENT GENOMICS

Molecular Cytogenetic Diagnosis and Somatic Genome Variations

(2010) S. Vorsanova et al.   CURRENT GENOMICS

Mosaic trisomy 13: understanding origin using SNP array

(2010) N. Jinawath et al.   JOURNAL OF MEDICAL GENETICS

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients

(2010) L. K. Conlin et al.   JOURNAL OF MEDICAL GENETICS

Chromosomal instability and telomere lengths of each chromosomal arm measured by Q-FISH in human fibroblast strains prior to replicative senescence☆

(2010) Kaiyo Takubo et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Somatic gene mutation and human disease other than cancer: An update

(2010) Robert P. Erickson   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Missing heritability and stochastic genome alterations

(2010) Henry H. Q. Heng   NATURE REVIEWS GENETICS

Genomic Landscape of the Alzheimer’s Disease Brain: Chromosome Instability – Aneuploidy, but Not Tetraploidy – Mediates Neurodegeneration

(2010) Ivan Y. Iourov et al.   Neurodegenerative Diseases

Instability of chromosomes in human nerve cells (Normal and with Neuromental Diseases)

(2010) Yu. B. Yurov et al.   RUSSIAN JOURNAL OF GENETICS

Chromosomal mosaicism in spontaneous abortions: Analysis of 650 cases

(2010) S. G. Vorsanova et al.   RUSSIAN JOURNAL OF GENETICS

Piecing together the problems in diagnosing low-level chromosomal mosaicism

(2010) Caroline Robberecht et al.   Genome Medicine

Human interphase chromosomes: a review of available molecular cytogenetic technologies

(2010) Svetlana G Vorsanova et al.   Molecular Cytogenetics

Phenotypic variability in trisomy 13 mosaicism: Two new patients and literature review

(2009) Christopher B. Griffith et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain

(2009) Ivan Y. Iourov et al.   HUMAN MOLECULAR GENETICS

Neuronal Aneuploidy in Health and Disease:A Cytomic Approach to Understand the Molecular Individuality of Neurons

(2009) Thomas Arendt et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

DNA Probe Pooling for Rapid Delineation of Chromosomal Breakpoints

(2009) Chun-Mei Lu et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Developmental neural chromosome instability as a possible cause of childhood brain cancers

(2009) Ivan Y. Iourov et al.   MEDICAL HYPOTHESES

Neurodegeneration mediated by chromosome instability suggests changes in strategy for therapy development in ataxia-telangiectasia

(2009) Yuri B. Yurov et al.   MEDICAL HYPOTHESES

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE

Boveri revisited: chromosomal instability, aneuploidy and tumorigenesis

(2009) Andrew J. Holland et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: Differential expression and pathological meaning

(2009) Ivan Y. Iourov et al.   NEUROBIOLOGY OF DISEASE

Aneuploidy: From a Physiological Mechanism of Variance to Down Syndrome

(2009) Mara Dierssen et al.   PHYSIOLOGICAL REVIEWS

A Pathway-Based View of Human Diseases and Disease Relationships

(2009) Yong Li et al.   PLoS One

Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management

(2009) Sandrine Leclercq et al.   PRENATAL DIAGNOSIS

GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny

(2009) Yuri B Yurov et al.   Molecular Cytogenetics

Expanding the phenotype of mosaic trisomy 20

(2008) Mary J.H. Willis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular Cytogenetics and Cytogenomics of Brain Diseases

(2008) I. Iourov et al.   CURRENT GENOMICS

Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric Y chromosome in a male child with growth retardation and abnormal external genitalia

(2008) I.Y. Iourov et al.   CYTOGENETIC AND GENOME RESEARCH

Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature

(2008) Svetlana G Vorsanova et al.   Molecular Cytogenetics

Chromosomal mosaicism goes global

(2008) Ivan Y Iourov et al.   Molecular Cytogenetics

Mosaic X chromosome aneuploidy can help to explain the male-to-female ratio in autism

(2007) Ivan Y. Iourov et al.   MEDICAL HYPOTHESES

The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1

(2007) Yuri B. Yurov et al.   SCHIZOPHRENIA RESEARCH