Results 271 to 280 of about 9,725,589 (384)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales   +13 more
wiley   +1 more source

Musculoskeletal diseases, infections and vaccines: state of the art, research perspectives and educational needs. [PDF]

open access: yesAging Clin Exp Res
Ecarnot F   +18 more
europepmc   +1 more source

An in vivo assay for osteoclast activity using mouse calvaria

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study describes a novel method for measuring osteoclast‐mediated bone resorption in vivo using a mouse model. Localized injection of RANKL in a basement membrane matrix above the cranium induced osteoclast‐mediated bone resorption. Utilizing micro‐computed tomography and a semiautomated three‐dimensional analysis program, osteoclast resorption pit
Christopher Grieg   +2 more
wiley   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

open access: yesAnnals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek   +7 more
wiley   +1 more source

Home - About - Disclaimer - Privacy