Results 101 to 110 of about 18,846 (258)
Clinical Genetics, EarlyView.To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum +13 more
wiley +1 more source
Case Reports in Oncology, 2015 A 38-year-old primiparous mother (gravida 1, para 0) at 27 weeks and 6 days' gestation reported that fetal movements had been absent for 6 days. All serological markers for infection were negative.
Michiko Yuki +5 more
doaj +1 more source
A stochastic model for early placental development [PDF]
, 2013 In the human, placental structure is closely related to placental function and consequent pregnancy outcome. Studies have noted abnormal placental shape in small-for-gestational age infants which extends to increased lifetime risk of cardiovascular ...
Collins, S.L +4 more
core +1 more source
Maternal supraphysiological hypercholesterolemia associates with endothelial dysfunction of the placental microvasculature [PDF]
, 2018 Maternal physiological or supraphysiological hypercholesterolemia (MPH, MSPH) occurs during pregnancy. MSPH is associated with foetal endothelial dysfunction and atherosclerosis.
Cantin, Claudette +3 more
core +1 more source
Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley +1 more source
Distribution of CA 125 in Placental Tissues
The International Journal of Biological Markers, 1989 The presence of the tumor marker CA 125 was studied in different compartments of the human placenta. Levels of CA 125 in the cytosol of chorionic villi ranged from 27 - 17100 U/g (median 560 U/g). In the placental amnion and chorion concentrations ranged
L.C. Fuith +5 more
doaj +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Transforming growth factor (TGF)‐β2 and interleukin (IL)‐1β induced morphological and molecular changes consistent with endothelial‐to‐mesenchymal transition (EndMT) in HUVECs isolated from both pregnancies complicated by gestational diabetes (GDM) and non‐GDM pregnancies.
Abigail R. Byford +9 more
wiley +1 more source
Generation of iPSC lines from primary human chorionic villi cells
Stem Cell Research, 2015 Primary human chorionic villi (CV) cells were used to generate the iPSC line by retroviral transduction of the four Yamanaka-factors OCT4, SOX2, KLF4 and c-MYC. Pluripotency was confirmed both in vivo and in vitro.
Björn Lichtner +2 more
doaj +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend We investigated how environmental hypoxia and genetic adaptation to high altitudes jointly impact the development of the placental exchange surface in ways that might protect fetal growth potential. We used wild‐derived, lab‐born North American deer mice (Peromyscus maniculatus) from low‐elevation and high‐elevation environments (
Kathryn Wilsterman +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 348-352, February 2026.ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens +9 more
wiley +1 more source