Cytogenetics

Latest research

1. Prenatal diagnosis of chromosome 21q homologous rearrangement: integrated cytogenetic and molecular characterization

   • Miriam Lucia Carriero
   • Ludovico Graziani
   • Giuseppe Novelli

   in Egyptian Journal of Medical Human Genetics

   Article Open access 17 October 2025

   

2. Fine-needle aspiration cytology for the diagnosis of ewing’s sarcoma in bone: a case report

   • Yumeng Cai
   • Jiangang Gu
   • Zhiyong Liang

   in Diagnostic Pathology

   Article Open access 17 October 2025

   

3. A feasibility study of [18F] FDG PET/CT radiomics in predicting high-risk cytogenetic abnormalities in multiple myeloma

   • Hong Chen
   • Jingxin Han
   • Quanyong Luo

   in EJNMMI Research

   Article Open access 15 October 2025

   

4. Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement

   • Ludovico Graziani
   • Silvia Genovese
   • Anna Maria Nardone

   in Molecular Cytogenetics

   Article Open access 14 October 2025

   

5. Clinical utility impact of DNA-based cytology using droplet digital methylation-specific PCR in gastric cancer

   • Hiroki Harada
   • Takafumi Soeno
   • Keishi Yamashita

   in Gastric Cancer

   Article 13 October 2025

   

6. Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis

   • Yangping Chen
   • Meiying Cai
   • Hailong Huang

   in BMC Pregnancy and Childbirth

   Article Open access 10 October 2025

   

7. Prospective multicenter validation of a next-generation sequencing panel using cytology specimens for lung cancer: cPANEL

   • Kei Morikawa
   • Yuta Takashima
   • Masamichi Mineshita

   in BMC Cancer

   Article Open access 09 October 2025

   

8. Ploidy and karyotype diversity indicate adaptive and invasive traits in Lantana species from Bangladesh

   • Prasenjit Roy
   • Chandan Kumar Dash
   • Syeda Sharmeen Sultana

   in The Nucleus

   Article 09 October 2025

   

9. The relationship between fetal tissue chromosomal karyotype and clinical characteristics in patients with spontaneous abortion: a retrospective study

   • Lin Liu
   • Yanting Yang
   • Fang Wang

   in BMC Pregnancy and Childbirth

   Article Open access 08 October 2025

   

10. Extended blastocyst culture improves DNA yield in non-invasive preimplantation genetic testing for aneuploidy but diagnostic specificity remains limited

    • Ting-Feng Wu
    • Chun-I Lee
    • Pin-Yao Lin

    in Scientific Reports

    Article Open access 07 October 2025

11. Validation of non-invasive preimplantation genetic testing for aneuploidies (niPGT-A) in a Japanese population: experience from seven clinics

    • Takeshi Iwasa
    • Yuri Yamamoto
    • Masahide Shiotani

    in Journal of Assisted Reproduction and Genetics

    Article 07 October 2025

    

12. Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment

    • Rebecca K. Voss
    • Victor B. Pastor Loyola
    • Lu Wang

    in Leukemia

    Article Open access 07 October 2025

    

13. The Voles Genus Alexandromys (Rodentia, Arvicolinae) of the Middle Amur Lowland and Description of Four New Karyotype Variants of Alexandromys maximowiczii (Rodentia, Arvicolinae)

    • I. V. Kartavtseva
    • A. I. Stepanova

    in Biology Bulletin

    Article 06 October 2025

    

14. Clinical application of CNV-seq for diagnosing abnormal brain development in children

    • Shaohua Zhu
    • Shibing Cheng
    • Xuan Feng

    in Scientific Reports

    Article Open access 29 September 2025

    

15. Differential regulation of mesoscale chromosome conformations in osteoblasts and osteosarcoma

    • Madhoolika Bisht
    • Yu-Chieh Chung
    • Li-Chun Tu

    in Genome Biology

    Article Open access 26 September 2025

    

16. Diagnostic Efficacy of Histology Combined with Single Cytology for Endoscopic Ultrasound-Guided Fine-Needle Aspiration of Solid Pancreatic Lesions: A Retrospective Single-Center Study

    • Fu-qiang Liu
    • Li-na Ren
    • Wei-hui Liu

    in Digestive Diseases and Sciences

    Article 25 September 2025

17. Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing

    • Hironao Shirai
    • Keiko Shimojima Yamamoto
    • Toshiyuki Yamamoto

    in Journal of Human Genetics

    Article 24 September 2025

    

18. The formation and propagation of human Robertsonian chromosomes

    • Leonardo Gomes de Lima
    • Andrea Guarracino
    • Jennifer L. Gerton

    in Nature

    Article Open access 24 September 2025

    

19. Low Dose of Lead Causes Activation of Ribosomal Cistrons 15 Chromatids Associated with Malignant Growth

    • Teimuraz Lezhava
    • Tamar Buadze
    • Shorena Sharia

    in Cytology and Genetics

    Article 21 September 2025

    

20. Effect of re-biopsy and re-vitrification on clinical outcomes in preimplantation genetic testing for aneuploidy

    • Huijiao Wu
    • Hui Wang
    • Zhiheng Chen

    in Journal of Assisted Reproduction and Genetics

    Article 20 September 2025

    

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