Results 61 to 70 of about 91,924 (199)

Double-strand break repair and homologous recombination in Schizosaccharomyces pombe [PDF]

open access: yes, 2006
In recent years our understanding of double strand break repair and homologous recombination in Schizosaccharomyces pombe has increased significantly, and the identification of novel pathways and genes with homologues in higher eukaryotes has increased ...
Ahmad   +102 more
core   +2 more sources

CML with complex chromosome rearrangements and dysplastic megakaryocytes [PDF]

open access: yesBlood, 2016
![Figure][1] A 41-year-old man presented with anemia (hemoglobin 112 g/dL), leukocytosis (white blood cells 158.85 × 109/L) including basophilia (15.44 × 109/L), and thrombocytosis (platelets 467 × 109/L).
Zhaodong, Xu, Jean, McGowan-Jordan
openaire   +2 more sources

Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis [PDF]

open access: yes, 2014
Oesophageal adenocarcinoma (EAC) incidence is rapidly increasing in Western countries. A better understanding of EAC underpins efforts to improve early detection and treatment outcomes.
Anderson, M   +43 more
core   +4 more sources

Complex chromosomal rearrangement—a lesson learned from PGS [PDF]

open access: yesJournal of Assisted Reproduction and Genetics, 2017
The aim of the study is to report a case of non-diagnosed complex chromosomal rearrangement (CCR) identified by preimplantation genetic screening (PGS) followed by preimplantation genetic diagnosis (PGD) which resulted in a pregnancy and delivery of healthy offspring.A 29-year-old woman and her spouse, both diagnosed previously with normal karyotypes ...
Tsvia Frumkin   +7 more
openaire   +2 more sources

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

open access: yesMolecular Cytogenetics, 2018
Background Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring.
Constantia Aristidou   +6 more
doaj   +1 more source

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements

open access: yesFrontiers in Genetics
IntroductionIndividuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations.
Xiaohang Hu   +9 more
doaj   +1 more source

Generation of a whole chromosome painting probe from monochromosomal hybrid cells by the alu-polymerase chain reaction [PDF]

open access: yesArchives of Biological Sciences, 2007
Fluorescent in situ hybridization (FISH) has become a widespread technique applicable in basic science and diagnostics. Chromosome painting represents a special application of FISH that has found increasing use in identification of complex chromosome ...
Drakulić Danijela   +3 more
doaj   +1 more source

Genetic Requirements for Intra-Chromosomal Deletions [PDF]

open access: yes, 2020
Chromosomal deletions are one of the most dangerous types of DNA damage and often arise as a result of inappropriately repaired DNA double strand breaks (DSB).
McPherson, Matthew
core  

Rapid metaphase and interphase detection of radiation-induced chromosome aberrations in human lymphocytes by chromosomal suppression in situ hybridization [PDF]

open access: yes, 1990
Chromosomal in situ suppression (CISS)-hybridization of biotinylated phage DNA-library inserts from sorted human chromosomes was used to decorate chromosomes 1 and 7 specifically from pter to qter and to detect structural aberrations of these chromosomes
Cremer, Christoph   +4 more
core   +1 more source

Complex X chromosome rearrangement associated with multiorgan autoimmunity [PDF]

open access: yesMolecular Cytogenetics, 2015
Turner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of the second sex chromosome. Turner syndrome is usually associated with short stature, gonadal dysgenesis and variable dysmorphic features.
Haltrich, Irén   +10 more
openaire   +3 more sources

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