Results 211 to 220 of about 536,456 (309)

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu   +7 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo   +4 more
wiley   +1 more source

Exocytotic membrane fusion as studied in toxin-permeabilized cells [PDF]

open access: yes, 1993
Ahnert-Hilger, G.   +3 more
core  

Investigation of the Mechanism of Cinnamaldehyde in Irritable Bowel Syndrome Based via Network Pharmacology, Molecular Docking, and Animal Experiments

open access: yesPediatric Discovery, EarlyView.
Through network pharmacology and molecular docking, it has been discovered that CA can target MAOB, among other proteins, to exert a therapeutic effect in IBS. In vivo, CA lowered visceral hypersensitivity, anxiety and depression‐like behaviors, and fecal water content, highlighting its therapeutic potential for IBS via anti‐inflammatory pathways ...
Qingyang Yu   +4 more
wiley   +1 more source

New Cortisol Thresholds for the Diagnosis of Adrenal Insufficiency Using the Low-Dose Synacthen Test in Children on Long-Term Corticosteroids: A North African Pilot Study. [PDF]

open access: yesDiagnostics (Basel)
Ach T   +16 more
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

open access: yesPediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil   +2 more
wiley   +1 more source

Optimizing the diagnosis of primary aldosteronism: The role of adrenal vein sampling and the need for high-expertise reference centers. [PDF]

open access: yesJ Neuroendocrinol
Herrera-Martínez AD   +15 more
europepmc   +1 more source

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