Results 261 to 270 of about 379,513 (362)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Evaluating the Efficacy of Trapezius Transfer in the Management of Massive Rotator Cuff Tears: A Systematic Review of Clinical Outcomes. [PDF]

open access: yesOrthop Rev (Pavia)
Velichala SR   +7 more
europepmc   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

Emerging Use of BPC-157 in Orthopaedic Sports Medicine: A Systematic Review. [PDF]

open access: yesHSS J
Vasireddi N   +6 more
europepmc   +1 more source

A mouse coccygeal intervertebral disc degeneration model with tail‐looping constructed using a suturing method

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A novel, simple coccygeal intervertebral disc degeneration model, using a suturing method for tail‐looping, without the need for external fixation and complex surgery. The model has high reproducibility and stability and overcomes the disadvantages of the existing animal models of disc degeneration.
Wei Xie   +11 more
wiley   +1 more source

Shear wave elastography of the supraspinatus tendon with early degeneration in asymptomatic type II diabetes mellitus patients: a multicenter study. [PDF]

open access: yesBMC Musculoskelet Disord
Wang T   +15 more
europepmc   +1 more source

circNR3C2 promotes chondrogenic differentiation and cartilage repair of human adipose‐derived stem cells via the hsa‐miR‐647/SOX9 pathway

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The hypothesis diagram illustrates the function and mechanism of circNR3C2: circNR3C2 overexpression can up‐regulate COL2, Aggrecan and SOX9 expression, and regulate chondrogenic differentiation of hADSCs by targeting hsa‐miR‐647. Abstract Background Human adipose‐derived stem cells (hADSCs) are seed cells with application prospects in cartilage repair.
Dabiao Hou   +5 more
wiley   +1 more source

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