Results 211 to 220 of about 370,892 (284)

Magnetic resonance imaging-defined knee osteoarthritis rarely occurs without cartilage damage. [PDF]

open access: yesOsteoarthr Cartil Open
Chang AH   +5 more
europepmc   +1 more source

Simulated weight bearing squat movement: patellofemoral measurements on cadaveric specimens [PDF]

open access: yes, 2010
De Baets, Patrick   +3 more
core  

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco   +2 more
wiley   +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

Knee extensor strength normalised to body weight is associated with patient-reported outcomes at 12 months after open-wedge high tibial osteotomy. [PDF]

open access: yesJ Exp Orthop
Ueda Y   +12 more
europepmc   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

High bilateral bony symmetry in dysplastic and nondysplastic knees: a CT-based 3D evaluation. [PDF]

open access: yesBMC Musculoskelet Disord
Boot MR   +4 more
europepmc   +1 more source

Equine models in translational medicine: A comparative approach to human health

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh   +1 more
wiley   +1 more source

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