Results 171 to 180 of about 2,298,025 (383)

Amaurosis fugax due to pleomorphic sarcoma in the left atrium

open access: gold, 2016
Sheila Pabon   +2 more
openalex   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle   +26 more
wiley   +1 more source

THE ROLE OF TRANSFORMING GROWTH FACTOR BETA-1 AND GALECTIN-3 IN FORMATION OF THE LEFT ATRIUM FIBROSIS IN PATIENTS WITH PAROXYSMAL ATRIAL FIBRILLATION AND METABOLIC SYNDROME

open access: diamond, 2018
E. L. Zaslavskaya   +7 more
openalex   +2 more sources

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat   +2 more
wiley   +1 more source

Health‐related quality of life following total minimally invasive, hybrid minimally invasive or open oesophagectomy: a population‐based cohort study

open access: yesBJS (British Journal of Surgery), EarlyView., 2020
All patients operated for oesophageal cancer in Sweden from 2013 to April 2018 were identified, and 246 patients were recruited to this population‐based nationwide Swedish study. The results show that longitudinal health‐related quality of life after minimally invasive oesophagectomy was similar to that of the open surgical approach.
F. Klevebro   +4 more
wiley   +1 more source

The Left Atrium

open access: yesJACC: Case Reports
Francesca Bursi, MD   +1 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

Bilateral superior vena cava with right superior vena cava draining into left atrium

open access: diamond, 2014
Mohammed Hussien Alghamdi   +3 more
openalex   +1 more source

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