Results 21 to 30 of about 10,428 (253)

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Clinical Case Reports, 2019
We report a new case of 46,XX male syndrome that was detected following an anomalous result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal karyotype and the ultrasonographic investigation.
Luigia De Falco, Giovanni Savarese, Teresa Suero, Sonia Amabile, Raffaella Ruggiero, Pasquale Savarese, Antonio Fico   +6 more
doaj   +1 more source

Importance of QF-PCR method in aborted embryos in comparison with other common relative determination aneuploidies methods

Journal of Current Oncology and Medical Sciences, 2021
One of the most important method in cytogenetic in order to diagnose the chromosomal abnormalities, is QF-PCR (Quantitative fluorescent polymerase chain reaction).In this way, QF-PCR can be employed in diagnosing the chromosome duplication number by ...
Kosar Babaei , Mohsen Azimi-Nezhad , Ali Akbar Samadani   +2 more
doaj  

Evolution of a Yeast With Industrial Background Under Winemaking Conditions Leads to Diploidization and Chromosomal Copy Number Variation

Frontiers in Microbiology, 2018
Industrial wine yeast strains show genome particularities, with strains showing polyploid genomes or chromosome copy number variations, being easier to identify.
Ana Mangado, Pilar Morales, Ramon Gonzalez, Jordi Tronchoni   +3 more
doaj   +1 more source

Impact of Maternal Age on Oocyte and Embryo Competence

Frontiers in Endocrinology, 2018
The overall success of human reproduction, either spontaneously or after IVF, is highly dependent upon maternal age. The main reasons for age-related infertility include reduced ovarian reserve and decreased oocyte/embryo competence due to aging insults,
Danilo Cimadomo, Gemma Fabozzi, Alberto Vaiarelli, Nicolò Ubaldi, Filippo Maria Ubaldi, Laura Rienzi   +5 more
doaj   +1 more source

Application of machine learning to predict aneuploidy and mosaicism in embryos from in vitro fertilization cyclesAJOG Global Reports at a Glance

AJOG Global Reports, 2022
BACKGROUND: The factors associated with embryo aneuploidy have been extensively studied. Mostly maternal age and to a lesser extent male factor and ovarian stimulation have been related to the occurrence of chromosomal alterations in the embryo.
José A. Ortiz, PhD, Ruth Morales, PhD, Belén Lledó, PhD, Juan A. Vicente, PhD, Julio González, PhD, Eva M. García-Hernández, PhD, Alba Cascales, MSc, Jorge Ten, PhD, Andrea Bernabeu, PhD, MD, Rafael Bernabeu, PhD, MD   +9 more
doaj   +1 more source

Longitudinal genome‐wide aneuploidy measurements in circulating cell‐free DNA to predict lack of benefit from pembrolizumab in patients with metastatic urothelial cancer

Molecular Oncology, EarlyView.
Many patients with urothelial cancer do not benefit from treatment with pembrolizumab, while at risk of severe side effects. Changes in the levels of circulating tumor DNA early during treatment, measured by a simple and affordable assay that can be easily implemented in the clinic, can be used as a prognostic tool to identify these patients.
Youssra Salhi, Stavros Makrodimitris, Sandra van Wilpe, Iris te Paske, Vanja de Weerd, Corine M. Beaufort, Hans M. Westgeest, Jens Voortman, Maureen J. B. Aarts, Maud Rijnders, Astrid A. M. van der Veldt, Ronald de Wit, Niven Mehra, Saskia M. Wilting, Debbie G. J. Robbrecht   +14 more
wiley   +1 more source

Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders

Cells, 2020
Chromosomal segregation errors in germ cells and early embryonic development underlie aneuploidies, which are numerical chromosomal abnormalities causing fetal absorption, developmental anomalies, and carcinogenesis.
Silvia Natsuko Akutsu, Kazumasa Fujita, Keita Tomioka, Tatsuo Miyamoto, Shinya Matsuura   +4 more
doaj   +1 more source

Concordance analysis between noninvasive prenatal testing (NIPT) and prenatal karyotyping for detecting fetal aneuploidies

Revista de la Facultad de Medicina, 2023
Introduction: Noninvasive prenatal testing (NIPT) is a screening test for fetal aneuploidy with higher specificity and sensibility rates compared to traditional biochemical prenatal screening. Objective: To evaluate concordance between NIPT and prenatal
Diana Carolina Grajales-Ospina, Luz Karime Yunis-Hazbun, Andrés Mauricio Camacho-Montaño, Alejandro Antonio Bautista-Charry, Reinaldo Niño-Alba, Juan José Yunis   +5 more
doaj   +1 more source

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +1 more source

Chromosomal Instability Drives Glioblastoma Heterogeneity and Therapeutic Opportunities

Advanced Science, EarlyView.
ABSTRACT Glioblastoma, the most aggressive and lethal form of brain cancer, is defined by profound genomic instability, with Chromosomal Instability (CIN) playing a central role in driving tumor progression, therapy resistance, and poor prognosis. CIN is characterized by numerical and structural alterations, is driven by mechanisms such as mitotic ...
Amarnath Pal, Milan Patra, Rianita Mondal, Shubhasis Haldar   +3 more
wiley   +1 more source