Results 81 to 90 of about 226,802 (259)
Journal of Clinical Laboratory Analysis, Volume 39, Issue 9, May 2025.The pregnant women with advanced maternal age who underwent amniocentesis at the Prenatal Diagnosis Center of Huizhou Central People's Hospital were enrolled in this study. The women were grouped based on different age ranges and prenatal diagnosis factor.
Caihong Liu +5 more
wiley +1 more source
Animals, 2022 The cattle breeding industry, through both of its derivatives (dairy and beef), provides 81% of milk and 22% of meat required globally. If a breeding bull is sub-fertile, this impacts herd conception and birth rates, and it is generally accepted that ...
Nicole M. Lewis +7 more
doaj +1 more source
Two Robertsonian translocations in a boy with mental retardation [PDF]
Journal of Medical Genetics, 1982 An 8-year-old boy with mental retardation was found to be a mosaic, showing three different cell lines, 46,XY/46,XY,-21,+t(q21q21)/45,XY,-13,-21,+t(q13q21) in cultured peripheral blood cells.
Puloma Shah, Ernest Lieber
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Risk of Alzheimer's disease in Down syndrome: Insights gained by multi‐omics
Alzheimer's &Dementia, Volume 21, Issue 4, April 2025.Abstract Individuals with Down syndrome (DS) are highly susceptible to Alzheimer's disease (AD). The integration of genomics, transcriptomics, epigenomics, proteomics, and metabolomics enables unprecedented understanding of DS‐AD, offering a detailed picture of this complex issue. The vast ‐omics data also present challenges that reflect the complexity
Hui‐Qi Qu +5 more
wiley +1 more source
Coincidence of Trisomy 18 and Robertsonian (13; 14) [PDF]
Iranian Journal of Public Health, 2012 This case report presents a coincidence of trisomy 18 and balanced Robertsonian translocation (13;14). Aneuploidy was suspected based on anomalies detected in ultrasound scan and confirmed with karyotype. In a 31 years-old healthy woman with a history of
A Jamal, S Mousavi, A Alavi
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Stem Cell Research, 2021 Robertsonian translocation between chromosomes 13 and 14 is reported to be a cause of male infertility. Here, we established an iPSC line (HRMSDUi001-A) from an azoospermic patient with 45,XY,der(13;14)(q10;q10) karyotype.
Liqiang Guo +4 more
doaj +1 more source
The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNA [PDF]
, 2018 Centromeres are the chromosomal domains required to ensure faithful transmission of the genome during cell division. They have a central role in preventing aneuploidy, by orchestrating the assembly of several components required for chromosome separation.
Barra V., Fachinetti D.
core +1 more source
Assessing Human Ribosomal DNA Variation and Its Association With Phenotypic Outcomes
BioEssays, Volume 47, Issue 4, April 2025.Genetic variation within the multi‐copy, multi‐locus ribosomal DNA (rDNA) can contribute to human complex trait variability. This variation takes the form of copy number, structural arrangement, and sequence differences. This review summarizes what is currently known about human rDNA variation, its causes, and its association with phenotypic outcomes ...
Francisco Rodriguez‐Algarra +3 more
wiley +1 more source
Genetic differentiation in populations polymorphic for Robertsonian translocations [PDF]
Heredity, 1989 Robertsonian translocations are characterized by centric fusion of two non-homologous acro- or telocentric chromosomes. Such translocations can be maintained in populations if in the chromosomally heterozygous individuals meiosis takes place regularly.
Gregorius, Hans-Rolf, Herzog, Sven
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eJHaem, Volume 6, Issue 1, February 2025.Abstract Introduction The RAM immunophenotype (IP) in acute myeloid leukemia (AML) is defined by blasts with bright CD56 and weak‐to‐negative CD45, HLA‐DR, and CD38 expression. A RAM IP predominantly presents in infants who have “standard‐risk disease” under current criteria but, when treated accordingly, have devastatingly high rates of minimal ...
Xenia Parisi +2 more
wiley +1 more source