Results 111 to 120 of about 63,250 (285)

Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome?

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Trisomy 21 (T21) is associated with various neurological impairments. However, the mechanisms of fetal brain development in T21 and their impact on neurodevelopmental outcomes remain unclear, limiting prenatal counseling. Therefore, this study aims to assess neuropathological changes in fetuses with T21 and the associated ...
Christina Haberl   +9 more
wiley   +1 more source

Selection forces underlying aneuploidy patterns in cancer

open access: yesMolecular & Cellular Oncology
Aneuploidy, the presence of an aberrant number of chromosomes, has been associated with tumorigenesis for over a century. More recently, advances in karyotyping techniques have revealed its high prevalence in cancer: About 90% of solid tumors and 50–70 ...
Tamara C. Klockner   +1 more
doaj   +1 more source

Whole genome amplification for PGD and PND; molecular and a-CGH diagnosis [PDF]

open access: yes, 2009
Whole genome amplification amplifies the entire genome in a few hours from samples of minimal DNA quantities, even from single cells. This may have many applications, especially in prenatal diagnosis, PGD and PGS. The hypothesis for chapter 3 was: Can
Glentis, S.
core  

Reproductive Challenges of the Ageing Female: A Comprehensive Narrative Review

open access: yesBJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Changes in societal norms over the last few decades have resulted in novel family planning trends, notably delayed childbearing and increased maternal age at the birth of the first child. Despite advances in reproductive medicine, ageing poses significant challenges.
Sofia Bitzika   +6 more
wiley   +1 more source

Sperm Telomere Interactions Are Impaired in Testicular Cancer Before and After Adjuvant Therapy

open access: yesAndrology, EarlyView.
ABSTRACT Background No study has yet explored telomere length or interaction in sperm nuclei of testicular cancer (TC) patients exposed to chemotherapy or radiotherapy. However, sperm telomere dynamics have emerged as a potential marker in male infertility.
Benoit Berby   +10 more
wiley   +1 more source

Impact of Chemotherapy on Sperm Functional Characteristics in Patients With Testicular Germ Cell Tumours

open access: yesAndrology, EarlyView.
ABSTRACT Background Testicular germ cell tumours (TGCT) are the most common malignancies among young men and represent a major threat to reproductive health. Both the disease itself and oncological treatments, particularly chemotherapy, can compromise spermatogenesis and semen quality.
Ondrej Sanovec   +18 more
wiley   +1 more source

aneuploidy

open access: yes
Citation: 'aneuploidy' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10394 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +2 more sources

Incidence of Gonadal and Extragonadal Germ Cell Tumours in Patients With Klinefelter Syndrome

open access: yesAndrology, EarlyView.
ABSTRACT Background Klinefelter's syndrome (KS; 47, XXY) is associated with an altered risk profile for malignancies compared with non‐KS males. In particular, several reports have noted a striking association between KS and extragonadal germ cell tumours (EGCTs), especially in the mediastinum, whereas the risk of testicular germ cell tumours (TGCTs ...
Aksh Tailor   +6 more
wiley   +1 more source

Comparative modeling reveals the molecular determinants of aneuploidy fitness cost in a wild yeast model

open access: yesCell Genomics
Summary: Although implicated as deleterious in many organisms, aneuploidy can underlie rapid phenotypic evolution. However, aneuploidy will be maintained only if the benefit outweighs the cost, which remains incompletely understood. To quantify this cost
Julie Rojas   +6 more
doaj   +1 more source

Mesenchymal Stem Cells From a Klinefelter Syndrome Patient: Functional Characterization and Therapeutic Implications

open access: yesAndrology, EarlyView.
ABSTRACT Background Cell therapy, particularly those utilizing mesenchymal stem/stromal cells (MSCs), is gaining traction as a therapeutic option for regenerative treatment in patients with limited therapeutic options. Although the safety of MSC‐based interventions is well established, uncertainties remain regarding how genetic abnormalities and ...
Marzena Zychowicz   +12 more
wiley   +1 more source

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