Mutagenesis

  1. Research

    Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing

    Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle-wasting disease caused by a mutation in the DMD gene. The aim of this study was to identify a de novo mutation of the DMD gene in the family of a ...

    Beibei Wu, Liying Wang, Ting Dong, Jiahui Jin, Yili Lu, Huiping Wu, Yue Luo and Xiaoou Shan

    Molecular Cytogenetics 2017 10:8

    Published on: 23 March 2017

  2. Research

    First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease

    Fanconi anemia (FA) is a chromosomal instability syndrome characterized by increased frequency of chromosomal breakages, chromosomal radial figures and accelerated telomere shortening. In this work we performe...

    Jelena Filipović, Gordana Joksić, Dragana Vujić, Ivana Joksić, Kristin Mrasek, Anja Weise and Thomas Liehr

    Molecular Cytogenetics 2016 9:70

    Published on: 13 September 2016

  3. Research

    Comparative analysis of individual chromosome involvement in micronuclei induced by mitomycin C and bleomycin in human leukocytes

    Micronucleus (MN) assay is a well standardized approach for evaluation of clastogenic/aneugenic effects of mutagens. Fluorescence in situ hybridization (FISH) is successfully used to characterize the chromosom...

    Galina Hovhannisyan, Rouben Aroutiounian, Nelly Babayan, Tigran Harutyunyan and Thomas Liehr

    Molecular Cytogenetics 2016 9:49

    Published on: 21 June 2016

Advertisement