Results 241 to 250 of about 702,880 (318)

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

open access: yesClinical Genetics, EarlyView.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl   +15 more
wiley   +1 more source

Giant Cell Tumor of the Proximal Femur with Pathological Fracture of Femoral neck. [PDF]

open access: yesJ Orthop Case Rep
Gupta G   +5 more
europepmc   +1 more source

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis‐Free DNA Methylation Profiling

open access: yesClinical Genetics, EarlyView.
Hypothesis‐free DNA methylation profiling in a 66‐year‐old male with unexplained neurodevelopmental disorder enabled the exclusion of ZNF142‐related disease (left panel) and led to a retrospective diagnosis of Angelman syndrome, highlighting the diagnostic potential of single‐patient epigenetic screening (right panel).
Mathis Hildonen   +9 more
wiley   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

open access: yesClinical Genetics, EarlyView.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc   +5 more
wiley   +1 more source

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