Disease: Chromosomal abnormalities
- A case of 49,XXXYY followed-up from infancy to adulthood with review of literature
- A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer-Rokitansky-Kuster-Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5
- A macroevolutionary role for chromosomal fusion and fission in Erebia butterflies
- A novel t(X;21)(p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in myelodysplastic syndromes and acute myeloid leukemias
- A working model for the formation of Robertsonian chromosomes
- Advancements in minimal residual disease detection: a practical approach using single-cell droplet PCR for comprehensive monitoring in hematological malignancy
- Aging-induced MCPH1 translocation activates necroptosis and impairs hematopoietic stem cell function
- Analysis of related factors influencing the detection rate of mosaic embryo and the pregnancy outcomes with mosaic embryo transfers
- Analysis of single umbilical artery with concurrent congenital anomaly: Is it a risk factor for poor prognosis? A cross-sectional study
- Anesthesia management for a child with the Koolen-de Vries syndrome: a case report
- Application of the Second Revision of the International Staging System (R2-ISS) in the prognostic assessment of newly diagnosed multiple myeloma
- Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing
- Assessment of genotoxicity biomarkers in gasoline station attendants due to occupational exposure
- Associations between genomic aberrations, increased nuchal translucency, and pregnancy outcomes: a comprehensive analysis of 2,272 singleton pregnancies in women under 35
- Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics
- Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss
- Chemo-free treatment of adult patients with Ph-positive acute lymphoblastic leukemia: latest updates from the 2023 ASH annual meeting
- Chromosomal Damage, Chromosome Instability, and Polymorphisms in GSTP1 and XRCC1 as Biomarkers of Effect and Susceptibility in Farmers Exposed to Pesticides
- Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome
- Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide data on prenatal profiles and detection compared with NIPT
- Core planar cell polarity genes <em>VANGL1</em> and <em>VANGL2</em> in predisposition to congenital vertebral malformations
- Could the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability?
- Cytogenetic abnormalities and TP53 and RAS gene profiles of childhood acute lymphoblastic leukemia in Morocco
- Cytogenetic Bioindication in Root Meristems for Vitality Assessment of Trees
- Diagnostic value of whole blood cell parameters logistic regression model for radiation injury on radiation workers
- Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/intellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings
- Differences in gross motor and fine motor outcomes for toddlers after early complex cardiac surgery
- Different Nuclear Architecture in Human Sperm According to Their Morphology
- Distinct growth patterns in seedling and tillering wheat plants suggests a developmentally restricted role of HYD2 in salt-stress response
- Diverse impacts of female chromosomal polymorphisms on assisted reproduction outcomes: a retrospective cohort study
- Dual-loss of PBRM1 and RAD51 identifies hyper-sensitive subset patients to immunotherapy in clear cell renal cell carcinoma
- Early Chronic Fluoxetine Treatment of Ts65Dn Mice Rescues Synaptic Vesicular Deficits and Prevents Aberrant Proteomic Alterations
- Echogenic intracardiac foci detection and location in the second-trimester ultrasound and association with fetal outcomes: A systematic literature review
- Effect of complete Y chromosome AZFc microdeletion on embryo euploidy
- Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations
- Evaluating the developmental potential of 2.1PN-derived embryos and associated chromosomal analysis
- Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype
- Frequency and characteristics of Y chromosome microdeletions and karyotypic abnormalities among 4 278 infertile male patients from southwest China
- Fusion of Platelet Derived Growth Factor Receptor Alpha (<em>PDGFRA</em>) With Ubiquitin Specific Peptidase 8 (<em>USP8</em>) in a Calcified Chondroid Mesenchymal Neoplasm Harboring t(4;15)(q12;q21) as a Sole Aberration
- Gene expression analyses of GH/IGF axis in triploid crucian carp with growth heterosis
- Gene expression analysis of drought tolerance and cuticular wax biosynthesis in diploid and tetraploid induced wallflowers
- Genetic analysis and assisted reproductive guidance for two infertile patients with rare small supernumerary marker chromosomes
- Genetic analysis for a female carrying idic(Y)(p11.32) with Disorders of sex development
- Genetic analysis of a fetus with Pitt-Hopkins syndrome due to a 18q21.2q21.31 microdeletion
- Genetic Counseling of Fetal Microcephaly
- Genomic landscape of diploid and aneuploid microsatellite stable early onset colorectal cancer
- Germline <em>MYOF1::WNK4</em> and <em>VPS25::MYOF1</em> Chimeras Generated by the Constitutional Translocation t(17;19)(q21;p13) in Two Siblings With Myelodysplastic Syndrome
- GPR27 expression correlates with prognosis and tumor progression in gliomas
- High clonal diversity and spatial genetic admixture in early prostate cancer and surrounding normal tissue
- Hues of risk: investigating genotoxicity and environmental impacts of azo textile dyes
- Human Papillomavirus-Induced Chromosomal Instability and Aneuploidy in Squamous Cell Cancers
- Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome
- Impact of the presence and number of chromosomal abnormalities on the clinical outcome in Waldenstrom Macroglobulinemia: a monocentric experience
- Important role and underlying mechanism of non‑SMC condensin I complex subunit G in tumours (Review)
- Influence of the number of washings for embryos on non-invasive preimplantation chromosome screening results
- Investigation of multidirectional toxicity induced by high-dose molybdenum exposure with Allium test
- Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
- Loss of TET2 increases B-1 cell number and IgM production while limiting CDR3 diversity
- 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
- Molecular Pathogenesis, Organ Metastasis, and Targeted Therapy for Non-Small-Cell Lung Cancer
- Multivariate logistic regression analysis of risk factors for birth defects: a study from population-based surveillance data
- NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long-read sequencing
- Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome
- Novel mutation leading to splice donor loss in a conserved site of <em>DMD</em> gene causes Duchenne muscular dystrophy with cryptorchidism
- Optimal Treatment Approaches to Intestinal Behçet's Disease Complicated by Myelodysplastic Syndrome: The KASID and KSBD Multicenter Study
- Pan-neuronal expression of human mutant SOD1 in Drosophila impairs survival and motor performance, induces early neuroinflammation and chromosome aberrations
- Patterns of Chromosomal Instability and Clonal Heterogeneity in Luminal B Breast Cancer: A Pilot Study
- Phenotypic variation seems not to be associated with the genetic profile in Zygopetalum (Orchidaceae): a case study of a high-elevation rocky complex
- Polyploidy Promotes Hypertranscription, Apoptosis Resistance, and Ciliogenesis in Cancer Cells and Mesenchymal Stem Cells of Various Origins: Comparative Transcriptome In Silico Study
- Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review
- Post-mortem rapid aneuploidy testing for holoprosencephaly
- Pre-breeding of spontaneous Robertsonian translocations for density planting architecture by transferring Agropyron cristatum chromosome 1P into wheat
- Prediction of embryo euploidy and pregnancy outcome by blastocyst morphology and development speed for women receiving single embryo transfer
- Prenatal chromosomal microarray analysis and karyotyping in fetuses with isolated choroid plexus cyst: A retrospective case-control study
- Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience
- 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 identification of a pathogenic maternal <em>FGFR1</em> variant in two consecutive pregnancies with fetal forebrain malformations
- Prenatal Screening and Diagnosis: Time for a Paradigm Shift
- Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study
- Pure Red Cell Aplasia and Chromosomal Abnormality in a Patient With Lung Adenocarcinoma Receiving Immune Checkpoint Inhibitors: A Case Report
- 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
- Selection of prenatal screening with nuchal translucency > 95th centile and below 99th centile: a 4-year observational study with real-world data
- Shorter telomere length increases the risk of lymphocyte immunodeficiency: A Mendelian randomization study
- Six-sequence-tagged site (STS) versus eight-STS scheme for detection of Y chromosome microdeletions
- Systematic reanalysis of copy number losses of uncertain clinical significance
- 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 construction of genetics teaching resources related to colour blindness and their application in genetics teaching
- The crosstalk between non-coding RNAs and cell-cycle events: A new frontier in cancer therapy
- The Diagnostic Yield of Chromosomal Microarray Analysis in Third-Trimester Fetal Abnormalities
- The Effect of Genome Parametrization and SNP Marker Subsetting on Genomic Selection in Autotetraploid Alfalfa
- The predictive value of T-cell chimerism for disease relapse after allogeneic hematopoietic stem cell transplantation
- The Relationship Between Chromosomal Polymorphism and Male Reproductive Abnormalities
- The role of extracorporeal life support and timing of repair in infants with congenital diaphragmatic hernia
- Therapeutic Management and Outcomes of Hepatoblastoma in a Pediatric Patient with Mosaic Edwards Syndrome
- Understanding the Awareness of Prenatal Genetic Screening Tests Among Pregnant Women in India: A Cross-Sectional Study
- Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant