Mosaic Variegated Aneuploidy: Elucidating the molecular causes of constitutional aneuploidy in humans

Keyphrases

• Aneuploidy 100%
• TRIP13 35%
• Mitosis 21%
• Molecular Mechanism 14%
• Kinetochore 14%
• Disease-causing mutations 14%
• Developmental Disorders 14%
• Pathogenicity Mechanisms 14%
• Spindle Assembly Checkpoint 14%
• BUB1B 14%
• Wilms Tumor 14%
• KNL1 14%
• Strong Correlation 7%
• Cancer Development 7%
• Potential Contribution 7%
• Pathogenic Mechanism 7%
• Mis-splicing 7%
• Cause of Disease 7%
• Severe Impairment 7%
• Clinical Case Study 7%
• Cancer Incidence 7%
• CEP57 7%
• Chromosome Segregation Errors 7%
• Chromosome Congression 7%
• Germline 7%
• Heterogeneous Phenotype 7%

Biochemistry, Genetics and Molecular Biology

• Mosaicism 100%
• Aneuploidy 100%
• Wilms' Tumor 16%
• Mitosis 16%
• Kinetochore 11%
• Spindle Checkpoint 11%
• BUB1B 11%
• Molecular Mechanism 11%
• Germ Cell 5%
• Tumor Suppressor Gene 5%
• Intron 5%
• Germline 5%
• Clinical Study 5%
• Autosome 5%
• Chromosome Segregation 5%
• Cancer Incidence 5%
• Monosomy 5%
• Trisomy 5%
• Minor Spliceosome 5%
• Chromosome 5%