Results 131 to 140 of about 15,822 (283)

Cardiovascular Health in Women—Across the Lifespan

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar   +5 more
wiley   +1 more source

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families

open access: yesClinical Genetics, EarlyView.
Pathogenic variants in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG).
Jessica Archer   +4 more
wiley   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

open access: yesClinical Genetics, EarlyView.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib   +12 more
wiley   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

open access: yesClinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson   +22 more
wiley   +1 more source

Heart Rate Variability Nomogram Predicts Atrial Fibrillation in Patients with Moderate to High Burden of Premature Ventricular Complexes [PDF]

open access: gold
Koray Kalenderoğlu   +8 more
openalex   +1 more source

The significance of the morphology of ventricular premature complex(VPC) as a marker for left ventricular structure and function [PDF]

open access: bronze, 1993
Jee Ae Shin   +5 more
openalex   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

open access: yesClinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau   +7 more
wiley   +1 more source

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova   +6 more
wiley   +1 more source

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