An analysis of Y-chromosome microdeletion in infertile Korean men with severe oligozoospermia or azoospermia [PDF]
Investigative and Clinical UrologyPurpose: Infertility affects 10% to 15% of couples, and male factor accounts for 50% of the cases. The relevant male genetic factors, which account for at least 15% of male infertility, include Y-chromosome microdeletions.
Tae Ho Lee +5 more
doaj +1 more source
Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells
Nature, 2014 Ring chromosomes are structural aberrations commonly associated with birth defects, mental disabilities and growth retardation. Rings form after fusion of the long and short arms of a chromosome, and are sometimes associated with large terminal deletions.
Marina Bershteyn +9 more
semanticscholar +1 more source
Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes [PDF]
, 1993 Colored chromosome staining patterns, termed chromosomal ‘bar codes’ (CBCs), were obtained on human chromosomes by fluorescence in situ hybridization (FISH) with pools of Alu-PCR products from YAC dones containing human DNA inserts ranging from 100 kbp ...
Cremer, Thomas +10 more
core +1 more source
Landscape of X chromosome inactivation across human tissues
Nature, 2016 X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance expression dosage between XX females and XY males. XCI is, however, incomplete in humans: up to one-third of X-chromosomal genes
T. Tukiainen +19 more
semanticscholar +1 more source
Genetics and Molecular Biology, 2007 Previous research using microdensitometric scanning and computer graphic image analysis showed that T-banded segments of human metaphase chromosomes usually exhibit an asymmetrical distribution of high density (HD) chromatin between sister chromatids ...
Federico F. Santiñaque +1 more
doaj +1 more source
Specific metaphase and interphase detection of the breakpoint region in 8q24 of burkitt lymphoma cells by triple-color fluorescence in situ hybridization [PDF]
, 1992 Triple fluorescence in situ hybridization with a plasmid DNA library from sorted human chromosomes 8 in combination with bacteriophage clones flanking the breakpoint in 8q24 of the Burkitt lymphoma cell line Jl was used for the specific delineation of ...
Anastasi +33 more
core +1 more source
Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X. [PDF]
PLoS ONE, 2017 To compensate for the sex difference in the number of X chromosomes, human females, like human males have only one active X. The other X chromosomes in cells of both sexes are silenced in utero by XIST, the Inactive X Specific Transcript gene, that is ...
Barbara R Migeon +2 more
doaj +1 more source
Application of the FISH Technique to Visualize Sex Chromosomes in Domestic Cat Spermatozoa
Animals, 2021 Fluorescence in situ hybridization is a molecular cytogenetics technique that enables the visualization of chromosomes in cells via fluorescently labeled molecular probes specific to selected chromosomes.
Barbara Kij-Mitka +6 more
doaj +1 more source
Detection of monosomy 7 in interphase cells of patients with myeloid disorders [PDF]
, 1990 Six patients, five with acute myeloid leukemia (AML) and one with a myelodysplastic syndrome (MDS), were found to have monosomy 7 by conventional cytogenetics at diagnosis.
Cremer, Thomas +5 more
core +1 more source
VisGenome: visualization of single and comparative genome representations [PDF]
, 2007 VisGenome visualizes single and comparative representations for the rat, the mouse and the human chromosomes at different levels of detail. The tool offers smooth zooming and panning which is more flexible than seen in other browsers.
A. F. Dominiczak +7 more
core +1 more source