Technology and methods

In this topical collection (16 articles)

1. Case Report

   Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report

   Elizabeth R. Kerr, Gary M. Stuhlmiller, George C. Maha… Article:60

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2. Research

   The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies

   Hongge Li, Yu Lei, Hui Zhu, Yuqin Luo, Yeqing Qian, Min Chen… Article:59

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3. Methodology

   Laundering CNV data for candidate process prioritization in brain disorders

   Maria A. Zelenova, Yuri B. Yurov, Svetlana G. Vorsanova… Article:54

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4. Methodology

   Noninvasive prenatal diagnosis of fetal aneuploidy by circulating fetal nucleated red blood cells and extravillous trophoblasts using silicon-based nanostructured microfluidics

   Chung-Er Huang, Gwo-Chin Ma, Hei-Jen Jou, Wen-Hsiang Lin… Article:44

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5. Research

   Placing women in Cytogenetics: Lore Zech and the chromosome banding technique

   Felicitas Söhner, Nils Hansson Article:40

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6. Research

   Genetic analysis of products of conception using a HLPA/SNP-array strategy

   Jun Mao, Huiling Wang, Haibo Li, Xiaoyan Song, Ting Wang… Article:40

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7. Research

   Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction

   Gang An, Yuan Lin, Liang Pu Xu, Hai Long Huang, Si Ping Liu… Article:33

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8. Research

   An improved method for inducing prometaphase chromosomes in plants

   Agus Budi Setiawan, Chee How Teo, Shinji Kikuchi, Hidenori Sassa… Article:32

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9. Methodology

   One-fits-all pretreatment protocol facilitating Fluorescence In Situ Hybridization on formalin-fixed paraffin-embedded, fresh frozen and cytological slides

   Shivanand O. Richardson, Manon M. H. Huibers, Roel A. de Weger… Article:27

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10. Methodology

    Optimization of proximity ligation assay (PLA) for detection of protein interactions and fusion proteins in non-adherent cells: application to pre-B lymphocytes

    Lydie Debaize, Hélène Jakobczyk, Anne-Gaëlle Rio… Article:27

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11. Review

    Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies

    Qiping Hu, Hongyan Chai, Wei Shu, Peining Li Article:19

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12. Research

    Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

    Carla Sustek D’Angelo, Monica Castro Varela… Article:14

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13. Research

    Identification of mosaic and segmental aneuploidies by next-generation sequencing in preimplantation genetic screening can improve clinical outcomes compared to array-comparative genomic hybridization

    Hsing-Hua Lai, Tzu-Hsuan Chuang, Lin-Kin Wong, Meng-Ju Lee… Article:14

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14. Research

    Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma

    Yipeng Wang, Shanshan Li, Wei Wang, Yuan Dong, Meng Zhang… Article:10

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15. Research

    Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis

    Zhengyou Miao, Xia Liu, Furong Hu, Ming Zhang, Pingli Yang… Article:9

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16. Commentary

    “Classical cytogenetics” is not equal to “banding cytogenetics”

    Thomas Liehr Article:3

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