Disease: Aneuploidy
- 20q11.2 microdeletion syndrome: a phenotypic spectrum expansion. Case report
- 7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy
- A genetic method to infer ploidy and aberrant inheritance in triploid organisms
- A gut microbiota rheostat forecasts responsiveness to PD-L1 and VEGF blockade in mesothelioma
- A patient with 18p11.32-p11.21 deletion have monaural deafness caused by an inadequate haplodose of THOC1: A case report
- Aberrant right subclavian artery in the absence of other prenatal ultrasound findings: Should we still be concerned?
- Advance of research on 22q11.2 deletion syndrome
- Age-associated clonal B cells drive B cell lymphoma in mice
- All tangled up: Unraveling phylogenetics and reticulate evolution in the vining ferns, Lygodium (Schizaeales)
- An egg-sabotaging mechanism drives non-Mendelian transmission in mice
- Aneuploidy rates and likelihood of obtaining a usable embryo for transfer among IVF cycles using PGT-M+PGT-A compared with IVF cycles using PGT-A alone
- Argonaute CSR-1 restricts holocentromere protein CENP-A/HCP-3 localization
- Asian Screening Array and Next-Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis
- Assessment of sperm chromosomal abnormalities using fluorescence in situ hybridization (FISH): implications for reproductive potential
- Assessment of the Role of Endometrial Receptivity Analysis in Enhancing Assisted Reproductive Technology Outcomes for Advanced-Age Patients
- Associations between first-trimester screening biomarkers and maternal characteristics with gestational diabetes mellitus in Chinese women
- B-type plexins regulate mitosis via RanGTPase
- Blastocoel fluid as an alternative source of DNA for minimally invasive PGT and biomarker of embryo competence
- Candida albicans' inorganic phosphate transport and evolutionary adaptation to phosphate scarcity
- Cell-Free DNA Analysis of Fetal Aneuploidies in Early Pregnancy Loss
- Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain
- Characteristics and Cytological Analysis of Several Novel Allopolyploids and Aneuploids between <em>Brassica oleracea</em> and <em>Raphanus sativus</em>
- Chromosomal Microarray Analysis in Fetuses with Ultrasound Abnormalities
- Chromosomal missegregation and aberrant embryo development in repro57 female mice with Rnf212 homozygous mutation
- Chromosome 7 gain compensates for chromosome 10 loss in glioma
- Clinical and molecular correlates of tumor aneuploidy in metastatic non-small cell lung cancer
- Clinical Applications of Fetal Cell-Free DNA: State of the Science
- Comparison of Clinical Outcomes in the Slow-Developing Blastocysts With or Without Preimplantation Genetic Testing-Aneuploidy on Day 6 in the Frozen-Thawed Cycle
- Comprehensive analysis of flavohemoprotein copy number variation in Giardia intestinalis: exploring links to metronidazole resistance
- Correlation between fetal ventricular echogenic foci in pregnancy and fetus chromosomal anomaly: a case-control study in Bandar Abbas city
- Correlation between high FSH levels and increased risk of aneuploidy: the origin of the hypothesis
- CytoCellDB: a comprehensive resource for exploring extrachromosomal DNA in cancer cell lines
- Declining translational capacity as a potential driver for oocyte meiotic instability
- Detection of Germline Mosaicism for Robertsonian Translocation 14;14: A Case Report
- Di(2-ethylexyl) phthalate and chromosomal damage: Insight on aneugenicity from the cytochalasin-block micronucleus assay
- Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling
- DISPARITIES IN ACCESS TO REPRODUCTIVE GENETIC SERVICES ASSOCIATED WITH GEOGRAPHIC LOCATION OF RESIDENCE AND MATERNAL ETHNICITY
- Early Non-Invasive Prenatal Testing at 6-9 Weeks of Gestation
- Effect of subchorionic hematoma on first-trimester maternal serum free β-hCG and PAPP-A levels
- Efficacy of non-invasive chromosome screening, preimplantation genetic testing for aneuploidy, and morphological grading in selecting embryos of patients with advanced maternal age: a three-armed prospective cohort study
- Embryonic aneuploidy - the true "last barrier in assisted reproductive technology"?
- Erg251 has complex and pleiotropic effects on sterol composition, azole susceptibility, filamentation, and stress response phenotypes
- Evaluating the Plausibility of Euploid Embryos Transfer on Day-5 by Reanalysis of Day-3 Single Aneuploid Embryos: A Case Series
- Exploration of inhibitors targeting KIF18A with ploidy-specific lethality
- Extracranial metastatic oligodendroglioma with molecular progression, case presentation
- Factors affecting biochemical pregnancy loss (BPL) in preimplantation genetic testing for aneuploidy (PGT-A) cycles: machine learning-assisted identification
- First trimester ultrasound of the cerebral lateral ventricles in fetuses with open spina bifida: a retrospective cohort study
- Generation of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion
- Genetic and clinical characteristics of 46,XX testicular disorders of sex development
- Genetic Screen in a Pre-Clinical Model of Sarcoma Development Defines Drivers and Therapeutic Vulnerabilities
- Genomic Determinants of Outcome in Acute Lymphoblastic Leukemia
- Genomic instabilities in hepatocellular carcinoma: biomarkers and application in immunotherapies
- Global analysis of gene expression in response to double trisomy loquat (Eriobotrya japonica)
- HIF1A contributes to the survival of aneuploid and mosaic pre-implantation embryos
- How predominant cell and stroma types harmonize to predict head and neck adenoid cystic carcinoma outcomes?
- Inference of chromosome selection parameters and missegregation rate in cancer from DNA-sequencing data
- Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience
- Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search
- Investigating developmental characteristics of biopsied blastocysts stratified by mitochondrial copy numbers using time-lapse monitoring
- Investigating the role of RNA-binding protein Ssd1 in aneuploidy tolerance through network analysis
- Is the rarity of recurrent implantation failure real or a mirage?
- Ketoconazole induces reversible antifungal drug tolerance mediated by trisomy of chromosome R in <em>Candida albicans</em>
- Long-term stability of acquired drug resistance and resistance associated mutations in the fungal pathogen <em>Nakaseomyces glabratus</em> (<em>Candida glabrata</em>)
- Loss over 5% of chromosome 1p is a clinically relevant and applicable cut-off for increased risk of recurrence in meningioma
- Molecular and Clinicopathologic Impact of GNAS Variants Across Solid Tumors
- Mosaic variegated aneuploidy in development, ageing and cancer
- Multiple aneuploidy: first report of a patient presenting with a karyotype 45,X/48,XXX,+21
- Multiplex droplet digital PCR for 22q11.2 microdeletions screening and DiGeorge syndrome diagnostics
- Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?
- Optimized Depilation Method and Comparative Analysis of Hair Growth Cycle in Mouse Strains
- Pediatric therapy-related hematologic neoplasms show enrichment for <em>KMT2A</em> rearrangement and lymphoblastic phenotype
- PGT-A is Associated with Reduced Live Birth Rates in Fresh but not Frozen Donor Oocyte IVF cycles: An Analysis of 18,562 Donor Cycles Reported to SART CORS
- Phenotypic continuum and poor intracytoplasmic sperm injection intracytoplasmic sperm injection prognosis in patients harboring HENMT1 variants
- Possible new defining presentation of mosaic tetrasomy 9p: multiple and recurrent pilomatrixoma
- Preimplantation genetic testing for aneuploidy in unexplained recurrent pregnancy loss: A systematic review and meta-analysis
- Prenatal cell-free DNA screening for chromosomal aneuploidies after euploid embryo transfer shows high concordance with PGT-A results and low positive predictive values
- Prenatal detection of distal 18p deletion by chromosomal microarray analysis: Three case reports and literature review
- Prenatal diagnosis and genetic counseling of a <em>de novo</em> 10q11.21q11.23 duplication associated with a normal phenotype
- Prenatal Prognosis of Omphalocele Using Magnetic Resonance Imaging Measurement of Fetal Lung Volumes
- Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22
- Reply 1: Correlation between high FSH levels and increased risk of aneuploidy: the origin of the hypothesis
- Reply 2: Correlation between high FSH levels and increased risk of aneuploidy: the origin of the hypothesis
- Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints
- Role and timing of chromosome deletions in multiple myeloma
- Safety of biologic immunosuppressants in pregnant women with immune-mediated inflammatory diseases
- Sex-specific DNA-replication in the early mammalian embryo
- Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types
- Surgery for hepatoblastoma in children with trisomy 18: a monocentric study
- Survey on ART and IUI: legislation, regulation, funding, and registries in European countries-an update
- The <em>Cryptococcus neoformans</em> STRIPAK complex controls genome stability, sexual development, and virulence
- The genomic landscape of lung cancer in never-smokers from the Women's Health Initiative
- The impact of implementing a non-invasive preimplantation genetic testing for aneuploidies (niPGT-A) embryo culture protocol on embryo viability and clinical outcomes
- The importance of genetic counselling for turner syndrome transition
- The Molecular Mechanism of Aurora-B Regulating Kinetochore-Microtubule Attachment in Mitosis and Oocyte Meiosis
- The role of primary cilia in congenital heart defect-associated neurological impairments
- Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX
- Uterine fibroids and non-informative cell-free DNA screening results
- Williams-Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion
- X centromeric drive may explain the prevalence of polycystic ovary syndrome and other conditions: Genomic structure of the human X chromosome pericentromeric region is consistent with meiotic drive associated with PCOS and other conditions
- Zygotic spindle orientation defines cleavage pattern and nuclear status of human embryos