Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]
Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto +2 more
core +1 more source
Chromosomal diversification and karyotype evolution of diploids in the cytologically diverse genus Prospero (Hyacinthaceae) [PDF]
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work ...
Andrew R Leitch +7 more
core +2 more sources
Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements [PDF]
Ksenia Krupina +2 more
openalex +1 more source
Rapid metaphase and interphase detection of radiation-induced chromosome aberrations in human lymphocytes by chromosomal suppression in situ hybridization [PDF]
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
Prenatal origin of childhood AML occurs less frequently than in childhood ALL [PDF]
Background While there is enough convincing evidence in childhood acute lymphoblastic leukemia (ALL), the data on the pre-natal origin in childhood acute myeloid leukemia (AML) are less comprehensive.
AM Ford +41 more
core +3 more sources
Host-specific serovars of Salmonella enterica often have large-scale chromosomal rearrangements that occur by recombination between rrn operons. Two hypotheses have been proposed to explain these rearrangements: (i) replichore imbalance from horizontal ...
T. David Matthews +2 more
doaj +1 more source
Rhabdomyosarcoma: Advances in Molecular and Cellular Biology. [PDF]
Rhabdomyosarcoma (RMS) is the most common soft tissue malignancy in childhood and adolescence. The two major histological subtypes of RMS are alveolar RMS, driven by the fusion protein PAX3-FKHR or PAX7-FKHR, and embryonic RMS, which is usually ...
Duan, Zhenfeng +5 more
core +3 more sources
Chromosomal rearrangements can drive adaptive evolution; however, whether the rearrangements in non-coding and non-promoter regions can lead to new phenotypes under selective pressures remains unclear.
Haiyan Ren +6 more
doaj +1 more source
P296: A rare combination: Novel presentation of achondroplasia with a complex chromosomal rearrangement [PDF]
Travis Schreier +3 more
openalex +1 more source
Heterozygotes for major chromosomal rearrangements such as fusions and fissions are expected to display a high level of sterility due to problems during meiosis. However, some species, especially plants and animals with holocentric chromosomes, are known
Vladimir A. Lukhtanov +5 more
doaj +1 more source

