Results 211 to 220 of about 378,909 (315)
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel+2 more
wiley +1 more source
Comparison of cardiac magnetic resonance and speckle tracking echocardiography in cardiac evaluation of children with acute myocarditis with preserved left ventricular function. [PDF]
Alkan F+4 more
europepmc +1 more source
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong+16 more
wiley +1 more source
Baseline characteristics and 1-year outcome by left ventricular function in the CABG PREFERS. [PDF]
Löfström U+10 more
europepmc +1 more source
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo+4 more
wiley +1 more source
Decoding Sex Differences in Right Ventricular Function through BMPR1A. [PDF]
Tóth EN, van Wezenbeek J, de Man FS.
europepmc +1 more source
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales+10 more
wiley +1 more source
Complementary classification of hypertrophic cardiomyopathy using unsupervised cluster analysis on left ventricular function. [PDF]
Sun D+5 more
europepmc +1 more source
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun+2 more
wiley +1 more source
Two decades after the arterial switch operation: stable right ventricular function but reduced exercise capacity. [PDF]
Joosen RS+8 more
europepmc +1 more source