Disease: Chromosomal triplication
- A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication
- A growth chart of brain function from infancy to adolescence based on EEG
- A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature
- A Novel Physiotherapy Approach for Enhancing Mobility in a 53-Year-Old With Down Syndrome: A Case Report
- A rapid PCR-free next-generation sequencing method for comprehensive diagnosis of chromosome disease syndromes in prenatal samples
- A single institution anesthetic experience with catheterization of pediatric pulmonary hypertension patients
- A Trisomy 21-linked Hematopoietic Gene Variant in Microglia Confers Resilience in Human iPSC Models of Alzheimer's Disease
- Aberrant methylation of placental development genes in chorionic villi of spontaneous abortions with trisomy 16
- Alzheimer's Drugs APPlication for Down syndrome?
- Alzheimer's drugs, APPlication for Down syndrome?
- APP antisense oligonucleotides reduce Aβ aggregation and rescue endolysosomal dysfunction in Alzheimer's disease
- Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing
- Assessing autosomal aneuploidy in ancient genomes
- Association of genetic variation on X chromosome with systemic lupus erythematosus in both Thai and Chinese populations
- Astroglial Activation Is Exacerbated in a Down Syndrome Mouse Model
- Beyond Quiescent and Active: Intermediate Microglial Transcriptomic States in a Mouse Model of Down Syndrome
- Chromosomal abnormalities associated with fetal pleural effusion (II): Specific and non-specific chromosome aberrations
- Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples
- Chromosome balanced translocation in newborn fetus founded during prenatal diagnosis: Three cases reports
- Chromosome ends initiate homologous chromosome pairing during rice meiosis
- Clinical manifestations and the prenatal diagnosis of trisomy 7 mosaicism: Two case reports
- Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium
- Cognitive and functional performance and plasma biomarkers of early Alzheimer's disease in Down syndrome
- Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide data on prenatal profiles and detection compared with NIPT
- Comparison of the performance of NIPT and NIPT-plus for fetal chromosomal aneuploidy and high Z-score increases the positive predictive value
- Competing Endogenous RNAs Crosstalk in Hippocampus: A Potential Mechanism for Neuronal Developing Defects in Down Syndrome
- Complete chromosome 21 centromere sequences from a Down syndrome family reveal size asymmetry and differences in kinetochore attachment
- COVID-19 in patients with Down syndrome: A systematic review
- Cryo-EM Structures Reveal Tau Filaments from Down Syndrome Adopt Alzheimer's Disease Fold
- Cytokine Storm Syndrome Responsive to IL-1 Inhibition in Trisomy 21
- Deciphering Recursive Polyploidization in Lamiales and Reconstructing Their Chromosome Evolutionary Trajectories
- Down-Klinefelter Syndrome With Concurrent Double Aneuploidy in an Indian Child
- Early Chronic Fluoxetine Treatment of Ts65Dn Mice Rescues Synaptic Vesicular Deficits and Prevents Aberrant Proteomic Alterations
- 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
- Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations
- Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review
- False positive non-invasive prenatal testing (NIPT) for trisomy 12 in a pregnancy associated with a favorable fetal outcome and normal hemogram in the pregnant woman
- Fetal trisomy 18 associated with congenital diaphragmatic hernia, choroid plexus cysts, clenched hands and a maternal origin of the extra chromosome 18
- 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
- Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine
- Genetic origin analysis of regions of homozygosity in three cases
- Impact of COVID-19 Pandemic on Psychosocial Attributes of Indian Families Bearing Child With Down Syndrome: A Survey by Trisomy 21 Research Society (T21RS), Indian Chapter
- Incidental detection of familial 8p23.2 microduplication encompassing CSMD1 associated with mosaic 46,XY,t(7;8)(q31.2;p23.1)/46,XY at amniocentesis in a pregnancy with no apparent phenotypic abnormality and a favorable outcome
- Insights into non-informative results from non-invasive prenatal screening through gestational age, maternal BMI, and age analyses
- Intussusception in Mosaic Trisomy 14
- Karyotype and LTR-RTs analysis provide insights into oak genomic evolution
- Kidney and urogenital abnormalities in Down syndrome: a meta-analysis
- Large Vestibular Aqueduct-Associated Symptoms: Endolymphatic Duct Blockage as a Surgical Treatment
- Malignant progression of pre-leukemic disorders
- Management of Left Ventricular Intramural Hematoma- an Unusual Complication of Complete Atrioventricular Septal Defect Repair in a Child
- Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in <em>SPR</em> and <em>ZNF142</em> : A Case Report and Review of the UPD2 Literature
- Mortality and Causes of Death Among Individuals With Keratoconus
- Multi-institutional Assessment of Otitis Media Epidemiology Using Real-world Data
- Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
- Nuchal Cystic Hygroma in Fetus: A Case Report
- Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method
- Optimal Treatment Approaches to Intestinal Behçet's Disease Complicated by Myelodysplastic Syndrome: The KASID and KSBD Multicenter Study
- Optimized Cytogenetic Risk-Group Stratification of KMT2A-Rearranged Pediatric Acute Myeloid Leukemia
- Parents of children with Down syndrome reflect on their postnatal diagnoses, 2003-2022
- Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages
- Performance of noninvasive prenatal screening for fetal sex chromosome aneuploidies in a cohort of 116,862 pregnancies
- Pleiotropic effects of trisomy and pharmacologic modulation on structural, functional, molecular, and genetic systems in a Down syndrome mouse model
- Post-mortem rapid aneuploidy testing for holoprosencephaly
- Postnatal outcome of fetal aberrant right subclavian artery: a single center study
- 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 diagnosis of congenital eyelid eversion in trisomy 21
- Prenatal diagnosis, pregnancy determination and follow up of sex chromosome aneuploidy screened by non-invasive prenatal testing from 122 453 unselected singleton pregnancies: A retrospective analysis of 7-year experience
- Prenatal screening after preimplantation genetic testing for aneuploidy: time to evaluate old strategies
- Prevalence of sex-chromosome aneuploidy estimated using SNP genotype intensity information in a large population of juvenile dairy and beef cattle
- Punctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies
- Rapid detection of maternal origin of trisomy 18 by quantitative fluorescent polymerase chain reaction in a fetus associated with increased nuchal translucency thickness and omphalocele on first-trimester prenatal ultrasound
- Rapidly Progressive Contralateral Internal Carotid Artery Stenosis After COVID-19 Infection in a Down Syndrome Patient With Unilateral Moyamoya Arteriopathy
- Results of inaugural international Down Syndrome Societal Services and Supports survey
- Revisiting Atrioventricular Septal Defects: Exploring Chromosomal Abnormalities, Cardiac and Extracardiac Anomalies in a Contemporary Prenatal Cohort
- SFCE harmonization workshops: Neonatal acute myeloid leukemia
- Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review
- Successful oral midodrine therapy for treatment of refractory postoperative chylothorax in an infant
- Supporting patient decision-making in non-invasive prenatal testing: a comparative study of professional values and practices in England and France
- Surgical Management of Pediatric Obstructive Sleep Apnea Beyond T&A - Tongue Base and Larynx
- Surgical Management of Pediatric Obstructive Sleep Apnea Beyond Tonsillectomy & Adenoidectomy: Tongue Base and Larynx
- Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia
- Systemic juvenile idiopathic arthritis-associated lung disease: A retrospective cohort study
- Test performance and clinical utility of expanded non-invasive prenatal test: Experience on 71,883 unselected routine cases from one single center
- The Anesthetic Complexity of Eisenmenger Syndrome: A Clinical Case
- The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling
- The effect of trisomic chromosomes on spatial genome organization and global transcription in embryonic stem cells
- The Eμ-Ret mouse is a novel model of hyperdiploid B-cell acute lymphoblastic leukemia
- The interrelation between the high expression level of MIR34a and the trisomic abortion materials
- 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
- Transcranial Direct Current Stimulation in neurogenetic syndromes: new treatment perspectives for Down syndrome?
- Triple-Negative Myelofibrosis: Disease Features, Response to Treatment and Outcomes
- Trisomy 21 screening with alphalpha software and the Fetal Medicine Foundation algorithm
- Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature
- Trisomy silencing by XIST: translational prospects and challenges
- Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes
- Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights
- Use of murine models for the study of obstructive sleep apnea syndrome in Down syndrome
- Zinc metabolism and its role in immunity status in subjects with trisomy 21: chromosomal dosage effect