Effects of chromosomal translocation characteristics on fertilization and blastocyst development — a retrospective cohort study [PDF]
BMC Medical Genomics, 2023 Objective To determine the effect of different translocation characteristics on fertilization rate and blastocyst development in chromosomal translocation patients. Methods This retrospective cohort study was conducted at the Third Affiliated Hospital of
Shanshan Wu +8 more
doaj +2 more sources
Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia [PDF]
Molecular Genetics & Genomic Medicine, 2020 Background Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome.
Katrine S. Aagaard +7 more
doaj +2 more sources
Three-dimensional genome architecture influences partner selection for chromosomal translocations in human disease. [PDF]
PLoS ONE, 2012 Chromosomal translocations are frequent features of cancer genomes that contribute to disease progression. These rearrangements result from formation and illegitimate repair of DNA double-strand breaks (DSBs), a process that requires spatial ...
Jesse M Engreitz +2 more
doaj +3 more sources
Effects of Gender of Reciprocal Chromosomal Translocation on Blastocyst Formation and Pregnancy Outcome in Preimplantation Genetic Testing. [PDF]
Front Endocrinol (Lausanne), 2021 Song H +6 more
europepmc +3 more sources
Application of Chromosome Conformation Capture Method for Detection MYC/TRD Chromosomal Translocation in Leukemia Cell Line [PDF]
International Journal of Hematology-Oncology and Stem Cell Research, 2020 Background: Chromosomal breakpoints are the most common cause of hereditary diseases and cancers. Today, many standard clinical methods such as cytogenetic and PCR based techniques are used which have limitation regarding detection resolution. Chromosome
Moloud Absalan +7 more
doaj +2 more sources
A Case of Partial Trisomy of 10q and Partial Monosomy of 6p Resulting from Maternal t(6;10) (p23;q24) [PDF]
Journal of Clinical and Diagnostic Research, 2021 Chromosomal analysis is practiced routinely since long time in congenital malformations to find out structural and or numerical chromosomal aberrations.
ANJALI SATYEN SABNIS +2 more
doaj +1 more source
Clinical effect of chromosome balanced translocation study of the effect on genomic stability
生物医学转化, 2022 Objective To explore the effect of chromosome balanced translocation on genomic stability. Methods Abnormal embryos from patients with preimplantation genetic testing for structural rearrangements (PGTSR) indication between January 2019 and December 2020
Gao Ming +6 more
doaj +1 more source
AID and Reactive Oxygen Species Can Induce DNA Breaks within Human Chromosomal Translocation Fragile Zones. [PDF]
Mol Cell, 2019 Pannunzio NR, Lieber MR.
europepmc +3 more sources
Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
Molecular Cytogenetics, 2023 Background Optical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex chromosomal rearrangements (CCRs) and cryptic translocations are rare events that are considered ...
Shanshan Shi +3 more
doaj +1 more source
Transferring Desirable Genes from Agropyron cristatum 7P Chromosome into Common Wheat. [PDF]
PLoS ONE, 2016 Wheat-Agropyron cristatum 7P disomic addition line Ⅱ-5-1, derived from the distant hybridization between A. cristatum (2n = 4x = 28, PPPP) and the common wheat cv.
Mingjie Lu +9 more
doaj +1 more source