Results 171 to 180 of about 1,491,662 (291)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Arthrography of the wrist joint

open access: yesActa Orthopaedica et Traumatologica Turcica
In this article, indications and technical details of arthrography of the wrist, specialities of normal and pathologic wrist arthrogram have been submitted and marked the importance at the diagnosis and differential diagnosis of chronic wrist pain.
Ahmet Turan Aydin, Ersin Luleci
doaj  

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot   +10 more
wiley   +1 more source

Fundamentals, Advances, and Applications of Electrospun Nanofibrous 3D Materials

open access: yesJournal of Applied Polymer Science, EarlyView.
Three‐dimensional electrospun nanofibrous systems offer unique properties and microenvironments. These properties are determined by the fabrication strategies employed and can be adjusted by the incorporation of functional additives to achieve multifunctionality for specific applications. The applications range from the biomedical to the environmental,
Rebecca Hengsbach   +4 more
wiley   +1 more source

How to score the wrist joint by ultrasound: exploration of the most sensitive joint assessment during follow-up of early or established rheumatoid arthritis. [PDF]

open access: yesArthritis Res Ther
Yoshida Y   +7 more
europepmc   +1 more source

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