Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho +23 more
wiley +1 more source
A case of discordant related abnormal karyotypes from chorionic villi and amniocytes
A case of three discordant cell lines in prenatal diagnosis is described, of which two were abnormal related structural abnormalities of chromosome 11.
Warren, Richard +5 more
core +1 more source
This graphical abstract summarizes gestational changes in placental iron homeostasis and their relationship to ferroptosis‐associated molecular features. In trophoblast cells, experimentally induced sublethal iron‐dependent redox perturbation modulates migration and invasion without causing overt ferroptotic cell death, whereas iron chelation or ...
Wenxin Jiang +7 more
wiley +1 more source
Tubal Ectopic Pregnancy With Grossly Visible Intact Embryonic Structures: A Case Image
ABSTRACT An unruptured tubal ectopic pregnancy containing intact embryonic structures is a rare and life‐threatening condition demanding prompt diagnosis. The educational value of this report lies in its high‐quality gross image demonstrating intact embryonic structures within an unruptured tubal ectopic pregnancy.
Mojgan Akbarzadeh‐Jahromi +2 more
wiley +1 more source
The Bacterial DNA Profiling of Chorionic Villi and Amniotic Fluids Reveals Overlaps with Maternal Oral, Vaginal, and Gut Microbiomes. [PDF]
Campisciano G +9 more
europepmc +1 more source
A Guide to Enzymatic Targeted Methylation Sequencing Bioinformatics Workflow: Best Practices
Abstract We present a best‐practices protocol for targeted DNA methylation sequencing analysis that integrates both bisulfite‐ and enzymatic‐conversion approaches using Twist Bioscience technology. Building on established tools and vendor‐recommended workflows, this protocol provides a standardized, fully reproducible framework that addresses current ...
Vitória Rodrigues Guimarães Alves +12 more
wiley +1 more source
Apoptotic Receptors and CD107a Expression by NK Cells in an Interaction Model with Trophoblast Cells
Natural killer cells (NK cells) exert cytotoxicity towards target cells in several ways, including the expression of apoptosis-mediating ligands (TRAIL, FasL).
Valentina A. Mikhailova +6 more
doaj +1 more source
Transcriptomic analysis of stem cells from chorionic villi uncovers the impact of chromosomes 2, 6 and 22 in the clinical manifestations of Down syndrome. [PDF]
Vaiasicca S +8 more
europepmc +1 more source
Objective: To investigate the morphology of chorionic villi using light and electron microscopy, especially the expression of alpha-fetoprotein (AFP) in trophoblastic cells and the process of maturation and margination vasculogenesis proper using CD34 ...
YENILMEZ, ENGİN +5 more
core
EHA Guidelines on the management of children and adults with hemoglobin SC disease
Abstract HbSC disease is the second most common type of sickle cell disease (SCD) in populations of African origin. Although it is often grouped together with other types of SCD, particularly sickle cell anemia (HbSS), it has unique pathophysiology and a different spectrum of laboratory and clinical features.
David C. Rees +15 more
wiley +1 more source

