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Congenital chromosomal disease

Known as: Abnormalities, Chromosomal, Chromosome Abnormality Disorder, Disorder, Chromosomal 
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome… Expand
National Institutes of Health

Related topics

Related topics

50 relations

Narrower (41)

15q24 Microdeletion16p11.2 Deletion Syndrome22q13.3 Deletion Syndrome47, XYY syndrome
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Autosome AbnormalitiesChromosome AberrationsCytogeneticsIn Blood
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Broader (1)

Hereditary Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Oral Selinexor-Dexamethasone for Triple-Class Refractory Multiple Myeloma.
BACKGROUND Selinexor, a selective inhibitor of nuclear export compound that blocks exportin 1 (XPO1) and forces nuclear… Expand
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Review
2018
Review
2018
The genetic basis of disease
Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA… Expand
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Review
2018
Review
2018
Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta‐analysis
To establish, based on a systematic literature review, the frequency of pathogenic submicroscopic chromosomal aberrations in… Expand
Review
2018
Review
2018
Transcription-driven genome organization: a model for chromosome structure and the regulation of gene expression tested through simulations
Abstract Current models for the folding of the human genome see a hierarchy stretching down from chromosome territories, through… Expand
Review
2018
Review
2018
Female predisposition to TLR7-driven autoimmunity: gene dosage and the escape from X chromosome inactivation
Women develop stronger immune responses than men, with positive effects on the resistance to viral or bacterial infections but… Expand
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Review
2018
Review
2018
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are… Expand
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Review
2018
Review
2018
The effect of paternal factors on perinatal and paediatric outcomes: a systematic review and meta-analysis
BACKGROUND Maternal factors, including increasing childbearing age and various life-style factors, are associated with poorer… Expand
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Review
2018
Review
2018
Thidiazuron-induced abnormalities in plant tissue cultures
Thidiazuron (TDZ) is a proven effective and potent synthetic plant growth regulator for organogenic, regeneration, and… Expand
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Review
2018
Review
2018
X-Chromosome Inactivation: A Crossroads Between Chromosome Architecture and Gene Regulation.
In somatic nuclei of female therian mammals, the two X chromosomes display very different chromatin states: One X is typically… Expand
Review
2017
Review
2017
TRIM proteins and diseases.
Ubiquitination is one of the posttranslational modifications that regulates a number of intracellular events including signal… Expand
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