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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

L. Baudhuin

h-index 28 View on Semantic Scholar

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Review Open access Sep 2026

Connective tissue disorders and cardiac arrhythmias: genetic pathways, mechanistic bridges, and clinical implications

Recognition of CTDs as both vascular and electrical disorders reframes clinical management and underscores the need for prospective registries and genotype-phenotype studies to refine surveillance and prevention strategies.

L. Dreher, Hussein Abdul Nabi, Ramzi Ibrahim et al. · 0 citations
Review Oct 2026

B-351 Analytical Assessment of Fibronectin and Collagen I Fragment Biomarkers in Hypermobile Ehlers–Danlos Syndrome Using Immunoenrichment and LC–MS/MS

Hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) lack objective laboratory biomarkers, contributing to prolonged diagnostic delays and reliance on subjective clinical criteria. Ritelli et al. recently reported disease-associated ∼45–52 kDa fibronectin (FN) and type I collagen (...

Yan-Hong Wu, Zhe-Wei Liang, R. Lahr et al. · 0 citations
Open access Jan 2026

The Role of Genetic Variation in Phenotypic Variability in Loeys–Dietz Syndrome

Distinct genotype–phenotype associations exist among LDS subtypes, and TGFBR1 and TGFBR2 variants are associated with a greater burden of aggressive vascular disease, whereas SMAD3 variants are linked to mitral valve disease, peripheral neuropathy, and osteoarthritis.

Hussein Abdul Nabi, L. Dreher, Jack Hartnett et al. · 0 citations

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