Results 191 to 200 of about 287,339 (268)

Multiomics Analysis of Skeletal Muscle Identifies Dysregulation of Hypoxia-Induced Genes in Peripheral Artery Disease. [PDF]

open access: yesJ Am Heart Assoc
Ismaeel A   +8 more
europepmc   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

Extracellular vesicle R-Ras is a potential biomarker for human peripheral artery disease. [PDF]

open access: yesiScience
Wei X   +5 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan   +4 more
wiley   +1 more source

Mortality rate in patients with symptomatic peripheral artery disease in Brazil: comparison between sexes. [PDF]

open access: yesEinstein (Sao Paulo)
Farah BQ   +7 more
europepmc   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

Antithrombotic therapy in lower extremity peripheral artery disease patients with venous thromboembolism: a nationwide cohort study. [PDF]

open access: yesRes Pract Thromb Haemost
Goedegebuur J   +11 more
europepmc   +1 more source

Efficacy of Local Bupivacaine Injection of Postoperative Pain in Endoscopic Sinus Surgery

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Regional anesthesia is effective in alleviating postoperative pain and reducing the requirement for systemic pain medications. However, optimal postoperative pain management in endoscopic sinus surgery (ESS) remains challenging.
Wiracha Leewannapasai   +4 more
wiley   +1 more source

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