Results 251 to 260 of about 719,506 (384)

Coarctation of aorta [PDF]

open access: yesJournal of Human Hypertension, 1997
V S Rathore   +3 more
openaire   +3 more sources

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

Nonpenetrating Traumatic Injury of the Aorta [PDF]

open access: bronze, 1958
Loren F. Parmley   +3 more
openalex   +1 more source

Mechanics, mechanobiology, and modeling of human abdominal aorta and aneurysms.

open access: yesJournal of Biomechanics, 2012
J. Humphrey, G. Holzapfel, G. Holzapfel
semanticscholar   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier   +7 more
wiley   +1 more source

Asymptomatic Migration of an Amplatzer Vascular Plug into the Distal Abdominal Aorta. [PDF]

open access: yesVasc Specialist Int
Maleux G   +4 more
europepmc   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan   +4 more
wiley   +1 more source

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