Disease: Aneuploidy
- A case of 49,XXXYY followed-up from infancy to adulthood with review of literature
- A statistical investigation of parameters associated with low cell-free fetal DNA fraction in maternal plasma for noninvasive prenatal testing
- A survey of chromosomal instability measures across mechanistic models
- Aberrant methylation of placental development genes in chorionic villi of spontaneous abortions with trisomy 16
- An original aneuploidy-related gene model for predicting lung adenocarcinoma survival and guiding therapy
- Analysis of related factors influencing the detection rate of mosaic embryo and the pregnancy outcomes with mosaic embryo transfers
- Ancestral aneuploidy and stable chromosomal duplication resulting in differential genome structure and gene expression control in trypanosomatid parasites
- Anesthesia management for a child with the Koolen-de Vries syndrome: a case report
- Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing
- Aneuploidy is Linked to Neurological Phenotypes Through Oxidative Stress
- Antitumor immunity and prognosis value elicited by FAT3 and LRP1B co-mutation in endometrial cancer
- Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing
- Assessing autosomal aneuploidy in ancient genomes
- Association between aneuploidy screening analytes and adverse outcomes in twin gestations
- Centrosomes and associated proteins in pathogenesis and treatment of breast cancer
- Challenges of prenatal diagnosis in obese pregnant women
- Characterization of polyploidy in cancer: Current status and future perspectives
- Characterization of Razi Bovine Kidney (RBK) Cell Line as a Sensitive Cell to Bovine Herpesvirus-1 (BoHV-1)
- Chromosome Transplantation: Opportunities and Limitations
- CINner: modeling and simulation of chromosomal instability in cancer at single-cell resolution
- Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome
- Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium
- Comparative modeling reveals the molecular determinants of aneuploidy fitness cost in a wild yeast model
- Comparison of the performance of NIPT and NIPT-plus for fetal chromosomal aneuploidy and high Z-score increases the positive predictive value
- Correction to: "From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes"
- Could the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability?
- Crystal structure of human Cep57 C-terminal domain reveals the presence of leucine zipper and the potential microtubule binding region
- Density estimation for ordinal biological sequences and its applications
- Detection of chromosomal instability using ultrasensitive chromosomal aneuploidy detection in the diagnosis of precancerous lesions of gastric cancer
- Differential whole-genome doubling based signatures for improvement on clinical outcomes and drug response in patients with breast cancer
- Down-Klinefelter Syndrome With Concurrent Double Aneuploidy in an Indian Child
- Dysregulation of base excision repair factors associated with low tumor immunogenicity in head and neck cancer: implication for immunotherapy
- Early Chronic Fluoxetine Treatment of Ts65Dn Mice Rescues Synaptic Vesicular Deficits and Prevents Aberrant Proteomic Alterations
- Effect of complete Y chromosome AZFc microdeletion on embryo euploidy
- Elevated sperm DNA fragmentation is correlated with an increased chromosomal aneuploidy rate of miscarried conceptus in women of advanced age undergoing fresh embryo transfer cycle
- Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review
- Experimental evolution of extremotolerant and extremophilic fungi under osmotic stress
- Folate gene polymorphisms <em>CBS</em> 844ins68 and <em>RFC1</em> A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study
- Frequency and characteristics of Y chromosome microdeletions and karyotypic abnormalities among 4 278 infertile male patients from southwest China
- Genetic analysis of a fetus with Pitt-Hopkins syndrome due to a 18q21.2q21.31 microdeletion
- Genomic landscape of diploid and aneuploid microsatellite stable early onset colorectal cancer
- Genomic linkages dictate cancer evolution
- High clonal diversity and spatial genetic admixture in early prostate cancer and surrounding normal tissue
- Human Papillomavirus-Induced Chromosomal Instability and Aneuploidy in Squamous Cell Cancers
- Identification and validation of a novel anoikis-related prognostic model for prostate cancer
- Impact of aneuploidy on reproductive success in young infertile women: prospective analysis
- Islamic Viewpoints on Opportunistic Sex Selection of IVF Embryos upon doing Preimplantation Genetic Testing for Preventing Genetic Diseases
- Leukocytospermia does not negatively impact outcomes in in vitro fertilization cycles with intracytoplasmic sperm injection and preimplantation genetic testing for aneuploidy: findings from 5435 cycles
- Leveraging the sugarcane CRISPR/Cas9 technique for genetic improvement of non-cultivated grasses
- Live Cell Monitoring of Separase Activity, a Key Enzymatic Reaction for Chromosome Segregation, with Chimeric FRET-Based Molecular Sensor upon Cell Cycle Progression
- Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men's Health
- Machine-learning analysis reveals an important role for negative selection in shaping cancer aneuploidy landscapes
- Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia
- Management strategies following implantation failure of euploid embryos
- Modified natural cycle allows a window of 7 days for frozen embryo transfer planning
- Molecular mechanisms governing antifungal drug resistance
- Multi-Omics after O-GlcNAc Alteration Identifies Cellular Processes Working Synergistically to Promote Aneuploidy
- Non-invasive prediction of preeclampsia using the maternal plasma cell-free DNA profile and clinical risk factors
- Non-Invasive Preimplantation Genetic Testing for Aneuploidy - Look Before You Leap
- Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings
- Nuchal Cystic Hygroma in Fetus: A Case Report
- Optimal Treatment Approaches to Intestinal Behçet's Disease Complicated by Myelodysplastic Syndrome: The KASID and KSBD Multicenter Study
- Parental questions about sex chromosome aneuploidies regarding sex, gender, and sexual orientation as reported by genetic counselors in a prenatal setting
- Patterns of Chromosomal Instability and Clonal Heterogeneity in Luminal B Breast Cancer: A Pilot Study
- PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases
- Post-mortem rapid aneuploidy testing for holoprosencephaly
- Preimplantation genetic testing for a Chinese pedigree affected with Rett syndrome
- Preimplantation genetic testing for aneuploidy could not improve cumulative live birth rate among 1003 couples with recurrent pregnancy loss
- Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case
- Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication
- Prenatal screening after preimplantation genetic testing for aneuploidy: time to evaluate old strategies
- Prognostic biomarkers for malignant progression of oral epithelial dysplasia: an updated systematic review and meta-analysis
- Quantifying Y chromosome loss in primary and metastatic prostate cancer by chromosome painting
- Recent advances in mechanisms ensuring the pairing, synapsis and segregation of XY chromosomes in mice and humans
- Revisiting Atrioventricular Septal Defects: Exploring Chromosomal Abnormalities, Cardiac and Extracardiac Anomalies in a Contemporary Prenatal Cohort
- Risk of meningomyelocele mediated by the common 22q11.2 deletion
- Selection of prenatal screening with nuchal translucency > 95th centile and below 99th centile: a 4-year observational study with real-world data
- Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads
- Site-Specific Investigation of DNA Holliday Junction Dynamics and Structure with 6-Methylisoxanthopterin, a Fluorescent Guanine Analog
- Six-sequence-tagged site (STS) versus eight-STS scheme for detection of Y chromosome microdeletions
- Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report
- Test performance and clinical utility of expanded non-invasive prenatal test: Experience on 71,883 unselected routine cases from one single center
- The chromosomal characteristics of spontaneous abortion and its potential associated copy number variants and genes
- The Development of Serrated Epithelial Change in Ulcerative Colitis is not Significantly Associated with Increased Histologic Inflammation
- The Diagnostic Yield of Chromosomal Microarray Analysis in Third-Trimester Fetal Abnormalities
- The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy
- The impact of (very) young donor age on euploid rates: An analysis of 1831 trophectoderm biopsies evaluated with 24-chromosome NGS screening in oocyte donation cycles
- The impact of maternal age on aneuploidy in oocytes: Reproductive consequences, molecular mechanisms, and future directions
- The oocyte microenvironment is altered in adolescents compared to oocyte donors
- The response to single-gene duplication implicates translation as a key vulnerability in aneuploid yeast
- The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability
- The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities
- Therapeutic Management and Outcomes of Hepatoblastoma in a Pediatric Patient with Mosaic Edwards Syndrome
- Time-lapse imaging of morula compaction for selecting high-quality blastocysts: a retrospective cohort study
- Total duration of spontaneous blastocyst collapse during the expansion stage is an independent predictor of euploidy and live birth rates
- Trends in Reporting of Nuchal Translucency Measurements After the Clinical Introduction of Cell-Free DNA Screening
- Understanding the Awareness of Prenatal Genetic Screening Tests Among Pregnant Women in India: A Cross-Sectional Study
- Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome
- Whole-genome duplication in the Multicellularity Long Term Evolution Experiment
- Zinc metabolism and its role in immunity status in subjects with trisomy 21: chromosomal dosage effect