Results 231 to 240 of about 455,442 (295)

Case Report: Deciphering a <i>de novo</i> complex chromosomal rearrangement causing premature ovarian insufficiency, short stature, and mild intellectual disability using long-read sequencing. [PDF]

Front Genet
Cheng Q, Peng Q, Lv F, Zeng X, Chen X, Li S, Lu X.   +6 more
europepmc   +1 more source

Transforming Life Science Through Chromosome-Level Genome Assemblies. [PDF]

Genes Cells
Kon T, Kataoka K, Luo YJ, Wibisana JN, Toga K, Uno N, Monden Y, Hamada M.   +7 more
europepmc   +1 more source

Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure. [PDF]

Bioinformatics
Lascelles C, Raynor M, Crinnion LA, Rose AMS, Diggle CP, Poulter JA, Watson CM, Carr IM.   +7 more
europepmc   +1 more source

Acquired Elliptocytosis With Hemolytic Anemia in Myelodysplastic Neoplasm With del(20q)

International Journal of Laboratory Hematology, EarlyView.
Nina Sicard, Léa Ousset, Karen Delavigne, Isabelle Luquet, Jean‐Baptiste Rieu   +4 more
wiley   +1 more source

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Chromosomal rearrangement and carcinogenesis

Mutation Research/Reviews in Genetic Toxicology, 1982
All carcinogens that have been thoroughly tested have been found to induce some kind of chromosomal rearrangement. Chromosomal rearrangements are associated with a variety of human and rodent cancers and are associated, with in vitro cell transformation.
M, Radman, P, Jeggo, R, Wagner
openaire   +2 more sources

Chromosomal rearrangements in lipofibromatosis

Cancer Genetics and Cytogenetics, 2007
Lipofibromatosis is a relatively rare pediatric neoplasm, which usually manifests as an ill-defined soft tissue mass involving the upper and lower distal extremities, the trunk, and, less frequently, the head. To date, no cytogenetic abnormalities have been reported in this uncommon neoplasm.
Barton, Kenney, Kathleen E, Richkind, Gary, Friedlaender, Eduardo, Zambrano   +3 more
openaire   +2 more sources

Chromosomal rearrangements and speciation

Trends in Ecology & Evolution, 2001
Several authors have proposed that speciation frequently occurs when a population becomes fixed for one or more chromosomal rearrangements that reduce fitness when they are heterozygous. This hypothesis has little theoretical support because mutations that cause a large reduction in fitness can be fixed through drift only in small, inbred populations ...
openaire   +2 more sources