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Inversions on human chromosomes
American Journal of Medical Genetics Part A, 2022AbstractHuman chromosome inversions are types of balanced structural variations, making them difficult to analyze. Thanks to PEM (paired‐end sequencing and mapping), there has been tremendous progress in studying inversions. Inversions play an important role as an evolutionary factor, contributing to the formation of gonosomes, speciation of ...
Klara Kosuthova, Roman Solc
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The human Y chromosome: a masculine chromosome
Current Opinion in Genetics & Development, 2006Once considered to be a genetic wasteland of no scientific interest beyond sex determination, the human Y chromosome has made a significant comeback in the past few decades and is currently implicated in multiple diseases, including spermatogenic failure - absent or very low levels of sperm production.
Michiel J, Noordam, Sjoerd, Repping
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Current Opinion in Genetics & Development, 1995
The construction of integrated maps at all levels of resolution will facilitate determination of the DNA sequence and, ultimately, the entire gene content of the human genome. In the past two years, the need for extensive frameworks on which to anchor the maps of the human chromosomes has been emphasized. The first framework has been provided following
D R, Bently, I, Dunham
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The construction of integrated maps at all levels of resolution will facilitate determination of the DNA sequence and, ultimately, the entire gene content of the human genome. In the past two years, the need for extensive frameworks on which to anchor the maps of the human chromosomes has been emphasized. The first framework has been provided following
D R, Bently, I, Dunham
openaire +2 more sources
Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 2008
Fragile sites are heritable specific chromosome loci that exhibit an increased frequency of gaps, poor staining, constrictions or breaks when chromosomes are exposed to partial DNA replication inhibition. They constitute areas of chromatin that fail to compact during mitosis. They are classified as rare or common depending on their frequency within the
T, Lukusa, J P, Fryns
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Fragile sites are heritable specific chromosome loci that exhibit an increased frequency of gaps, poor staining, constrictions or breaks when chromosomes are exposed to partial DNA replication inhibition. They constitute areas of chromatin that fail to compact during mitosis. They are classified as rare or common depending on their frequency within the
T, Lukusa, J P, Fryns
openaire +2 more sources
Human Reproduction, 1988
Sperm chromosome studies have been performed in 70 normal males. The incidence of aneuploidy in this group is approximately 3-4%, and that of structural anomalies close to 5%. In carriers of reciprocal or Robertsonian translocations, the results are extremely variable, with percentages of unbalanced sperm from 8 to 87%.
C, Templado +6 more
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Sperm chromosome studies have been performed in 70 normal males. The incidence of aneuploidy in this group is approximately 3-4%, and that of structural anomalies close to 5%. In carriers of reciprocal or Robertsonian translocations, the results are extremely variable, with percentages of unbalanced sperm from 8 to 87%.
C, Templado +6 more
openaire +2 more sources