Results 311 to 320 of about 744,744 (361)

Lifestyle Management in Menopause: A Systematic Review of Women With Premature Ovarian Insufficiency

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Objective Premature ovarian insufficiency (POI), the loss of ovarian function before age 40, increases the risk of cardiovascular disease, low bone mineral density, dementia and psychological distress. Lifestyle interventions reduce chronic disease risk in other populations and, with hormone therapy, may improve health outcomes in POI.
Ladan Yeganeh   +4 more
wiley   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

open access: yesClinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut   +7 more
wiley   +1 more source

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

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

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