8 results match your criteria: "Clinical Genetics and Research[Affiliation]"

Introduction: X chromosome architecture and integrity are essential for normal ovarian function. Both numerical and structural X chromosome abnormalities play an important role in female infertility. This study aimed to determine the types and frequency of X chromosome aberrations detected in women referred for cytogenetic investigation due to reproductive problems.

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Preeclampsia (PE) is a major complication of pregnancy with an incidence rate of 2‑8% and is a leading cause of maternal mortality and morbidity. The various consequences of severe preeclampsia for the fetus, neonate and child include intrauterine growth retardation (IUGR), fetal hypoxia, oligohydramnios, intrauterine fetal demise, increased perinatal mortality and morbidity, neurodevelopmental disorders and even irreversible brain damage (cerebral palsy). A number of studies have demonstrated that differences in maternal serum concentrations of angiogenic factors between preeclampsia and normotensive pregnancies can be used as biomarkers, either alone or in combination with other markers, to predict the development of PE.

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Purpose: To investigate whether preimplantation genetic testing for aneuploidy (PGT-A) improves the clinical outcome in patients with advanced maternal age (AMA), recurrent miscarriages (RM), and recurrent implantation failure (RIF).

Methods: Retrospective cohort study from a single IVF center and a single genetics laboratory. One hundred seventy-six patients undergoing PGT-A were assigned to three groups: an AMA group, an RM group, and a RIF group.

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The main aim of the present systematic review was to summarize the most frequently used telomerase regulators with an impact on aging and cancer that are referred to in and studies. For this purpose, a systematic review of the available literature on telomerase regulators referred to in articles from PubMed and Scopus libraries published from 2002 to 2021 and in accordance with PRISMA 2020 criteria, was conducted. Articles were included if they met the following criteria: They referred to telomerase modulators in aging and in cancer and were and/or studies, while studies that did not provide sufficient data or studies not written in English were excluded.

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Nursing engagement in genetics and genomics: A developing country's perspective.

Int Nurs Rev

December 2022

Clinical Genetics and Research Unit, Institute of Human Genetics - National Institutes of Health, University of the Philippines Manila, Manila, Philippines.

Aim: To review how nursing is engaged with genetics/genomics developments in the Philippines' healthcare system.

Background: There is an increasing demand for genetics services. However, the number of genetics professionals is lagging with this demand.

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Article Synopsis
  • Mesenchymal stromal cells (MSCs) can be derived from different sources, including pluripotent stem cells, and their properties need thorough investigation for potential clinical use.
  • This study compared the growth and cartilage-producing abilities of MSCs from human induced pluripotent stem cells (hiPSCs), embryonic stem cells (hESCs), and bone marrow (BM) samples.
  • Findings showed that while PSC-derived MSCs had significantly higher proliferation rates than BM-MSCs, they struggled to produce the desired type of cartilage (hyaline) compared to the BM-derived MSCs.
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 Antioxidant response plays a key role in bronchopulmonary dysplasia (BPD) pathogenesis. The glutathione-S-tranferases pi 1 (GSTP1) and cytochrome P450 (CYP) detoxification enzymes protect cells from oxidative damage. The aim of the study was to investigate whether the AG GSTP1 and GT CYP2B6 inactivating polymorphisms could be associated with BPD susceptibility.

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Microcephaly, unusual nose, cutaneous syndactyly, and mental retardation.

Clin Dysmorphol

October 2010

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam (RCMH) Department of Clinical Genetics and Research Institute Growth and Development (GROW), Maastricht University Medical Center, Maastricht, The Netherlands (CTRMSS).

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