Associated Papers
Founder Pathogenic Variant in LMNA and Its Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.
Manav Yigit Z et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.
Campos JTAM et al.
Genetics and Molecular Biology, 2022
Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics.
Jéru I et al.
Genes, 2021
Protein structural and mechanistic basis of progeroid laminopathies.
Marcelot A et al.
The Febs Journal, 2021
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
Systematic review of hormonal and genetic factors involved in the nonsyndromic disorders of the lower jaw.
Manocha S et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2019
Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.
Cenni V et al.
Ageing Research Reviews, 2018
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
Yassaee VR et al.
Gene, 2016
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