| Chromoanagenesis: cataclysms behind complex chromosomal rearrangements |
17 |
| 3C and 3C-based techniques: the powerful tools for spatial genome organization deciphering |
9 |
| The emerging links between chromosomal instability (CIN), metastasis, inflammation and tumour immunity |
9 |
| Chromosomal abnormalities and copy number variations in fetal ventricular septal defects |
7 |
| Non-invasive prenatal testing to detect chromosome aneuploidies in 204 pregnancies |
7 |
| Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes |
5 |
| Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity |
5 |
| Head and neck cancer: searching for genomic and epigenetic biomarkers in body fluids - the state of art |
5 |
| A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3) |
4 |
| Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies |
3 |
| Understanding aneuploidy in cancer through the lens of system inheritance, fuzzy inheritance and emergence of new genome systems |
3 |
| An improved method for inducing prometaphase chromosomes in plants |
3 |
| Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report |
3 |
| Distinct subtypes of genomic PTEN deletion size influence the landscape of aneuploidy and outcome in prostate cancer |
3 |
| Molecular cytogenetic identification of three rust-resistant wheat-Thinopyrum ponticum partial amphiploids |
3 |
| Genetic analysis of products of conception using a HLPA/SNP-array strategy |
3 |
| Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction |
3 |
| Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings |
3 |
| Characterization of chromosome composition of sugarcane in nobilization by using genomic in situ hybridization |
3 |
| Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-ql3.33 and mosaic monosomy 22 |
3 |
| Pathway-based classification of genetic diseases |
3 |
| Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22 |
3 |
| Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes |
3 |
| A patient with a diagnosis of nodal marginal zone B-cell lymphoma and a t(2;14)(p24;q32) involving MYCN and IGH |
3 |
| Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China |
2 |
| Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics |
2 |
| A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature |
2 |
| Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin |
2 |
| Copy number variation and regions of homozygosity analysis in patients with MULLERIAN aplasia |
2 |
| Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies |
2 |
| The decision on the embryo to transfer after Preimplantation Genetic Diagnosis for X-autosome reciprocal translocation in male carrier |
2 |
| Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases |
2 |
| The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects |
2 |
| A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5 |
2 |
| Parental origin of deletions and duplications - about the necessity to check for cryptic inversions |
2 |
| Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse |
2 |
| Laundering CNV data for candidate process prioritization in brain disorders |
2 |
| The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies |
2 |
| Application of chromosomal microarray analysis in products of miscarriage |
2 |
| Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement |
2 |
| Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China |
2 |
| Loss of DMRT1 gene in a Mos XY,-9[8]/ XY, r(9)[29]/ XY,+ idic r(9) x 2[1]/ XY, idic r(9)[1]/ XY[1] female presenting with short stature |
2 |
| Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene |
2 |
| Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant |
2 |
| Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis |
2 |
| Genomic instability in a chronic lymphocytic leukemia patient with mono-allelic deletion of the DLEU and RB1 genes |
2 |
| The variome concept: focus on CNVariome |
2 |
| Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies |
2 |
| Non-invasive prenatal testing reveals copy number variations related to pregnancy complications |
2 |
| Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature |
2 |
