Disease: Chromosomal abnormalities
- 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 kinase fusion protein from Aegilops longissima confers resistance to wheat powdery mildew
- A nomogram and risk stratification to predict subsequent pregnancy loss in patients with recurrent pregnancy loss
- A Novel JAK2 Fusion in T-Cell Prolymphocytic Leukemia
- Advance of research on 22q11.2 deletion syndrome
- Advanced maternal age (AMA) and pregnancy: a feasible but problematic event
- Advances in genetic research on Non-syndromic congenital joint synostosis
- Allopolyploidization from two dioecious ancestors leads to recurrent evolution of sex chromosomes
- An Optimized Peptide Antagonist of CXCR4 Limits Survival of BCR-ABL1-Transformed Cells in Philadelphia-Chromosome-Positive B-Cell Acute Lymphoblastic Leukemia
- An uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature
- Assessment of sperm chromosomal abnormalities using fluorescence in situ hybridization (FISH): implications for reproductive potential
- Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center
- Can we cure Ph+ ALL without chemotherapy or transplant?
- Cancer cytogenetics in the era of artificial intelligence: shaping the future of chromosome analysis
- Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: beyond neurodevelopmental disorders and epilepsy
- CffDNA screening for Niemann-pick disease, type C1: a case series
- Characteristics and Cytological Analysis of Several Novel Allopolyploids and Aneuploids between <em>Brassica oleracea</em> and <em>Raphanus sativus</em>
- Chromosomal 1p Duplication in a Pediatric Patient: A Case Report
- Chromosomal Microarray Analysis in Fetuses with Ultrasound Abnormalities
- Clinical and molecular correlates of tumor aneuploidy in metastatic non-small cell lung cancer
- Clinical features and prognosis of patients with myeloid neoplasms harboring t(7;11)(p15;p15) translocation: a single-center retrospective study
- Combined biological effects of CBCT and therapeutic X-ray dose on chromosomal aberrations of lymphocytes
- Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report
- Correlation between fetal ventricular echogenic foci in pregnancy and fetus chromosomal anomaly: a case-control study in Bandar Abbas city
- Cytogenetic study of Meriz goat breeds in Iraqi Kurdistan region
- Cytogenetics and genomics in CML and other myeloproliferative neoplasms
- Cytogenetics in haematology
- Cytoplasmic light-chain immunofluorescence combined with FISH in bone marrow smears to detect cytogenetic abnormalities in multiple myeloma
- Detection of Germline Mosaicism for Robertsonian Translocation 14;14: A Case Report
- Development of Myelodysplastic Syndrome in a Patient With Pernicious Anemia During the Course of Replacement Treatment
- Di(2-ethylexyl) phthalate and chromosomal damage: Insight on aneugenicity from the cytochalasin-block micronucleus assay
- Doubling down on polyploid discoveries: Global advances in genomics and ecological impacts of polyploidy
- Dulaglutide rescues the elevated testicular dysfunction in a mouse model of high-fat diet-induced obesity
- 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
- Factors affecting biochemical pregnancy loss (BPL) in preimplantation genetic testing for aneuploidy (PGT-A) cycles: machine learning-assisted identification
- Fanconi Anaemia associated with café au lait spots: A rare case report
- Frantz's tumor as incidental finding during Heller myotomy for achalasia: case report and review of literature
- Frequencies of chromosomal aberrations and related biochemical parameters in welders
- Genetic analysis of a child with mos 46,X,psu idic(X)(q21.3)[40]/45,X[3]
- Genetic analysis of a fetus with with 45,X/46,X,idic(Y)(q11.2) mosaicism
- Genetic and clinical characteristics of 46,XX testicular disorders of sex development
- Genetic diversification of allohexaploid Brassica hybrids (AABBCC) using a fertile octoploid with excessive C genome set (AABBCCCC)
- Genetic insights into the complexity of premature ovarian insufficiency
- Genomic abnormalities in apparently isolated polyhydramnios and the role of confirmed fetal phenotype: a systematic review and meta-analysis
- Genomic alterations in two patients with esophageal carcinosarcoma identified by whole genome sequencing: a case report
- Genomic architecture and population structure of Boreogadus saida from Canadian waters
- Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients
- Genomic structural variants analysis in leukemia by a novel cytogenetic technique: Optical genome mapping
- Genotoxicity and Micronucleus Formation as a Result of Panoramic Radiography in Epithelial Cells of the Buccal Mucosa: A Cross-sectional Study in Adults
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility
- How I treat adult Ph-positive ALL
- Huntington's disease cellular phenotypes are rescued non-cell autonomously by healthy cells in mosaic telencephalic organoids
- Impact of Structural Differences on the Modeled Cost-Effectiveness of Noninvasive Prenatal Testing
- 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
- Integrative single-cell analysis of longitudinal t(8;21) AML reveals heterogeneous immune cell infiltration and prognostic signatures
- Lifelong medical challenges and immunogenetics of turner syndrome
- Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption
- Long-Term Remission in T315I+ Relapsed Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with Blinatumomab and Allogeneic Stem Cell Transplantation: Two Case Studies
- Loss over 5% of chromosome 1p is a clinically relevant and applicable cut-off for increased risk of recurrence in meningioma
- Mapping of a novel locus Ra conferring extreme resistance against potato virus A in cultivated potato (Solanum tuberosum L.)
- MicroRNA dysregulation in myelodysplastic syndromes: implications for diagnosis, prognosis, and therapeutic response
- Morphological Analysis of Neurons and Glia Using Mosaic Analysis with Double Markers
- MYC translocation architecture in B-NHL
- Naturally occurring horse model of miscarriage reveals temporal relationship between chromosomal aberration type and point of lethality
- Persistent Obstructive Sleep Apnea Post-adenotonsillectomy in Children
- Phenotypic and molecular characterizations of 46,XY disorders of sex development due to variants of NR5A1 gene
- Philadelphia chromosome-like acute lymphoblastic leukemia with concomitant rearrangements of CRLF2 and ABL1: a pediatric case report
- Physiological and antioxidant responses of synthetic hexaploid wheat germplasm under drought
- Possible new defining presentation of mosaic tetrasomy 9p: multiple and recurrent pilomatrixoma
- Preconception carrier screening and preimplantation genetic testing in the infertility management
- Preimplantation genetic testing for complex chromosomal rearrangements: clinical outcomes and potential risk factors
- Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study
- Prenatal Diagnosed Agenesis of the Corpus Callosum: Identifying the Underlying Genetic Etiologies
- Prenatal diagnosis and genetic counseling of a <em>de novo</em> 10q11.21q11.23 duplication associated with a normal phenotype
- Prenatal diagnosis of fetuses with 4q35 deletion: Case Series and Review of the Literature
- Prenatal risk assessment of Xp21.1 duplication involving the <em>DMD</em> gene by optical genome mapping
- Prognostic value of the "dynamic" R2-ISS in patients with multiple myeloma undergoing anti-CD38 antibody-based triplet therapies
- Pulmonary artery banding and arch repair versus Norwood for unbalanced atrioventricular canal defect
- Rare case of complete gonadal dysgenesis in a female patient with primary amenorrhea and a 46XY karyotype
- Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22
- Refractory hypertension complicated with Turner syndrome: A case report
- RetSat stabilizes mitotic chromosome segregation in pluripotent stem cells
- Role and timing of chromosome deletions in multiple myeloma
- Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study
- Successful Treatment of Sperm DNA Fragmentation Through Ayurveda Rasayana Therapy: A Case Study
- Surgery for hepatoblastoma in children with trisomy 18: a monocentric study
- Talazoparib enhances resection at DSBs and renders HR-proficient cancer cells susceptible to Polθ inhibition
- The current clinical applications of preimplantation genetic testing (PGT): acknowledging the limitations of biology and technology
- The first high-altitude autotetraploid haplotype-resolved genome assembled (Rhododendron nivale subsp. boreale) provides new insights into mountaintop adaptation
- The Possible Earliest Allopolyploidization in Tracheophytes Revealed by Phylotranscriptomics and Morphology of Selaginellaceae
- The role of DNA polymerase I in tolerating single-strand breaks generated at clustered DNA damage in Escherichia coli
- TLR2 Derangements Likely Play a Significant Role in the Inflammatory Response and Thrombosis in Patients with <em>Ph</em>(-) Classical Myeloproliferative Neoplasm
- Transformation into acute myeloid leukemia with t(8;21)(q22;q22.1); RUNX1::RUNX1T1 from JAK2-mutated essential thrombocythemia: a case report
- Uterine fibroids and non-informative cell-free DNA screening results
- Whole exome sequencing analysis of 37 fetuses with cardiac abnormalities
- Whole exome sequencing reveals a dual diagnosis of <em>BCAP31</em>-related syndrome and glutaric aciduria III
- Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I