Results 161 to 170 of about 107,215 (206)

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett   +11 more
wiley   +1 more source

Role of Fetoscopic Airway Evaluation Immediately Preceding EXIT Procedure in Fetuses With Suspected Airway Obstruction

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This study describes the role of pre‐EXIT (Ex Utero Intrapartum Treatment) fetoscopic airway evaluation in fetuses with suspected airway obstruction. Methods Single center, retrospective, observational study including fetuses with suspected airway obstruction undergoing fetoscopic airway evaluation prior to EXIT between 2013 and 2025.
Daniel Sanin‐Ramirez   +6 more
wiley   +1 more source

PSMF1 Variants in a German Parkinson's Disease Cohort

open access: yes
Movement Disorders, EarlyView.
Carolin Gabbert   +9 more
wiley   +1 more source

Beyond the Negative: Insights From Postnatal Medical Genetics Follow‐Up After Nondiagnostic Prenatal Exome Sequencing

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with prenatally identified structural anomalies and nondiagnostic prenatal genetic testing. Method We performed a retrospective chart review of 61 liveborn children with fetal structural anomalies who had ...
Sophie Albert   +4 more
wiley   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway   +37 more
wiley   +1 more source

Cardiovascular and Hemodynamic Adaptations in Selective Fetal Growth Restriction: A Cohort Study of Monochorionic Twins

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective In monochorionic diamniotic twins with selective fetal growth restriction (sFGR), the Gratacós type is defined by one vessel in one fetus. We asked how much cerebral, venous and myocardial divergence between co‐twins it captures. Method Single‐center combined retrospective–prospective cohort; one diagnostic examination per pregnancy.
Tanchanok Auwattanamongkol   +7 more
wiley   +1 more source

HucMSC‐Derived Exosomes Preserve Mafb‐Dependent Tubular Epithelial Identity and Suppress Dedifferentiation in Obstructive Nephropathy

open access: yesPediatric Discovery, EarlyView.
Unilateral ureteral obstruction (UUO) and genetic deletion of Mafb lead to tubular epithelial dedifferentiation, characterized by decreased E‐cadherin and increased α‐SMA and vimentin expression. Intravenous administration of human umbilical cord mesenchymal stem cell‐derived exosomes (HucMSC‐Exos) partially restores Mafb expression in UUO kidneys ...
Zhuocheng Shi   +5 more
wiley   +1 more source

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