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Clinical, Phenotypic, and Demographic Characteristics of Peruvian Children and Neonates with Autosomal and Sex Chromosome Aneuploidies
(AVESTR, 2023-02-28)
"Objective: Autosomal and sex chromosome aneuploidies are associated with multiple risk factors that determine their frequency and their social and health impact. We aimed to determine the clinical, phenotypic,
and ...
Clinical, Phenotypic, and Demographic Characteristics of Peruvian Children and Neonates with Autosomal and Sex Chromosome Aneuploidies
(AVESTR, 2023-02-28)
"Objective: Autosomal and sex chromosome aneuploidies are associated with multiple risk factors that determine their frequency and their social and health impact. We aimed to determine the clinical, phenotypic,
and ...
Aneuploidy in spermatids of Robertsonian (Rb) chromosome heterozygous mice
(Kluwer Academic Publishers, 2014)
© 2014, The Author(s). Rb translocations are chromosomal rearrangements frequently found in natural populations of the house mouse Mus musculus domesticus. The standard diploid karyotype of the house mouse consisting of ...
Suppressing aneuploidy-associated phenotypes improves the fitness of Trisomy 21 Cells
(Elsevier B.V., 2019-11)
An abnormal number of chromosomes, or aneuploidy, accounts for most spontaneous abortions, causes developmental defects, and is associated with aging and cancer. The molecular mechanisms by which aneuploidy disrupts cellular ...
Aneuploidy and tumorigenesis in Drosophila
(Academic Press Ltd - Elsevier Science Ltd, 2014-04)
Aneuploidy, described as an abnormal number of whole chromosomes or parts of them, has been observed in the majority of sporadic carcinomas, the most common type of cancer occurring in humans and derived from putative ...
Does slow embryo development predict a high aneuploidy rate on trophectoderm biopsy?
(Elsevier Sci Ltd, 2016)
The aneuploidy rates in expanded blastocysts biopsied on days 5 and 6 development were assessed in women undergoing IVF followed by array comparative genomic hybridization. This study included 1171 expanded blastocysts ...
Reliability of short comparative genomic hybridization in fibroblasts and blastomeres for a comprehensive aneuploidy screening: first clinical application
(OXFORD UNIV PRESS, 2010)
BACKGROUND: Comparative genomic hybridization (CGH) is a valuable alternative to fluorescence in situ hybridization (FISH) for preimplantation genetic screening (PGS) because it allows full karyotype analysis. However, ...
Abordagem computacional para detecção de aneuploidias fetais
(Universidade Federal do Rio Grande do NorteBrasilUFRNBiomedicina, 2016-12-13)
The discovery of the cell free fetal DNA (cffDNA) in maternal plasma and
serum allowed the development of new test for fetal disorders in a non-invasive way
(NIPT). The detection of the cffDNA is possible around the ...