Results 181 to 190 of about 218,307 (293)

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas   +7 more
wiley   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao   +13 more
wiley   +1 more source

Infarto cerebral embólico y edema cerebral

open access: yesMedisur, 2016
Jorge Julián Sánchez Fernández   +1 more
doaj   +2 more sources

Intrauterine Transfusions in Fetuses Affected by Parvovirus B19: Complications, Challenges and Outcomes

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This study evaluates the procedural characteristics, complications, and outcomes of intrauterine transfusion (IUT) for fetal anemia caused by parvovirus B19 infection during the 2023–2024 epidemic in Northwestern Europe. Method This multicenter observational study included all fetuses undergoing IUT for proven parvovirus B19‐induced ...
Banu Özbakir   +6 more
wiley   +1 more source

Migrasomes, Matrix‐Bound Nanovesicles, and More: Messengers in the Matrix

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Extracellular vesicles (EVs) and particles (EPs) are diverse micro‐ and nanoparticles that circulate in bodily fluids and can attach to, or be deposited onto, the extracellular matrix (ECM) and other surfaces. To date, the nomenclature and classification of matrix‐bound or matrix‐associated EVs and EPs (MEVPs) have been unclear, largely due to
Anna V. Kolesov   +3 more
wiley   +1 more source

Assessing the Health Impacts of Contaminants on Green Turtles (Chelonia mydas) Along the Southern Coast of Brazil

open access: yesEnvironmental Toxicology, EarlyView.
ABSTRACT Chemical pollutants pose a significant threat to marine ecosystems. Among these contaminants are trace elements and polycyclic aromatic hydrocarbons (PAH). Green turtles can be employed to evaluate the oceans' health due to their coastal habitats and exposure to multiple threats.
Camila Roberta da Silva Ribeiro   +6 more
wiley   +1 more source

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