Results 71 to 80 of about 7,160 (223)
An overview of the postcranial osteology of caecilians (Gymnophiona, Lissamphibia)
Abstract Caecilians comprise a relatively small (~220 species) group (Gymnophiona) of snake‐like or worm‐like, mostly tropical amphibians. Most adult caecilians are fossorial, although some species may live in aquatic or semi‐aquatic environments, either as larvae or adults.
Rodolfo Otávio Santos +2 more
wiley +1 more source
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari +7 more
wiley +1 more source
Background Unstable osteolytic lesions of the occipitocervical junction are rare and may occur in hematological malignancy or vertebral hemangioma, among others.
Anna Voelker +2 more
doaj +1 more source
International guidelines for the management and treatment of Morquio A syndrome. [PDF]
Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I +8 more
core +2 more sources
ABSTRACT Introduction The lumbosacral transitional vertebra (LSTV) has been studied since 1876, with Castellvi developing a classification in 1984 based on its anatomy and laterality. It often goes unnoticed, or its diagnosis is limited to a lumbar spine X‐ray for confirmation. This has led to LSTV being underdiagnosed or even ignored.
Pedro Andrade‐Andrade +1 more
wiley +1 more source
Additions to the knowledge of Urumaquia robusta (Xenarthra, Phyllophaga, Megatheriidae) from the Urumaco Formation (Late Miocene), Estado Falcön, Venezuela [PDF]
We describe new remains ofUrumaquia robusta Carlini, Brandoni & Sänchez, 2006, which significantly improve the knowledge of the species and allow a more precise discussion about the relationships with the rest of the South American Megatheriinae. The new
Brandoni, Diego +2 more
core
Saul Wilson Syndrome: A Case Report With New Features in Saudi Arabia
ABSTRACT Saul Wilson syndrome is an extremely rare genetic disorder caused by heterozygous de novo mutations in the COG4 gene. We report the first case from Saudi Arabia with previously unreported facial dysmorphic features, expanding the known phenotypic spectrum and emphasizing the importance of recognizing phenotypic variability in rare disorders.
Saad A. Bin Owaimer +4 more
wiley +1 more source
The main features of late‐onset rheumatoid arthritis (LORA), manifesting after age 65, are acute onset, higher disease activity, systemic involvement, and less presence of autoantibodies. Management requires individualized strategies, balancing aggressive treat‐to‐target therapy in robust patients with frailty‐focused approaches to prevent geriatric ...
Fausto Salaffi +6 more
wiley +1 more source
Superior cervical vertebrae of a Miocene hominoid and a Plio-Pleistocene hominid from southern Africa [PDF]
The Miocene hominoid and Plio-Pleistocene hominid vertebral record is poor. In 1994, a complete atlas of a hominoid was found in breccia at Berg Aukas in Namibia. Its age was estimated to be middle Miocene (13 myr) on the basis of microfauna.
Gommery, Dominique
core
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza +3 more
wiley +1 more source

