Molecular Cytogenetics

该期刊中国学者近期发表论文选摘

• Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis Journal: Molecular Cytogenetics, 2019, Vol.12, , DOI:10.1186/s13039-019-0425-5
• Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations Journal: Molecular Cytogenetics, 2019, Vol.12, , DOI:10.1186/s13039-019-0423-7
• The rare mutation in the endosome-associated recycling protein gene <Emphasis Type="Italic">VPS50</Emphasis> is associated with human neural tube defects Journal: Molecular Cytogenetics, 2019, Vol.12, , DOI:10.1186/s13039-019-0421-9
• Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China Journal: Molecular Cytogenetics, 2019, Vol.12, , DOI:10.1186/s13039-019-0420-x
• Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis Journal: Molecular Cytogenetics, 2019, Vol.12, , DOI:10.1186/s13039-019-0416-6
• Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes Journal: Molecular Cytogenetics, 2019, Vol.12, , DOI:10.1186/s13039-018-0413-1
• Chromosomal abnormalities and copy number variations in fetal ventricular septal defects Journal: Molecular Cytogenetics, 2018, Vol.11, , DOI:10.1186/s13039-018-0408-y
• The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies Journal: Molecular Cytogenetics, 2018, Vol.11, , DOI:10.1186/s13039-018-0407-z
• A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization Journal: Molecular Cytogenetics, 2013, Vol.6, 11, DOI:10.1186/1755-8166-6-11
• 19p13.2 Microdeletion including <Emphasis Type="Italic">NFIX</Emphasis> associated with overgrowth and intellectual disability suggestive of Malan syndrome Journal: Molecular Cytogenetics, 2016, Vol.9, , DOI:10.1186/s13039-016-0282-4