Associated Papers
Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.
Hwang M et al.
International Journal of Molecular Sciences, 2026
Altered lipid metabolism and inflammatory programs associate with adipocyte loss in familial partial lipodystrophy 2.
Maung JN et al.
The Journal of Clinical Investigation, 2026
Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.
Piai CB et al.
American Journal of Medical Genetics. Part A, 2025
Anthropometric measurements as a key diagnostic tool for familial partial lipodystrophy in women.
Veras VR et al.
Diabetology & Metabolic Syndrome, 2024
Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.
Díaz-López EJ et al.
International Journal of Molecular Sciences, 2024
Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.
Besci O et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study.
Guidorizzi NR et al.
Frontiers in Endocrinology, 2024
Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy.
Santos JL et al.
Frontiers in Genetics, 2024
Waist circumference is independently associated with liver steatosis and fibrosis in LMNA-related and unrelated Familial Partial Lipodystrophy women.
Viola LF et al.
Diabetology & Metabolic Syndrome, 2023
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants.
Vasandani C et al.
Journal of the Endocrine Society, 2022
A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies.
Treiber G et al.
European Journal of Endocrinology, 2021
Partial Lipodystrophy and LMNA p.R545H Variant.
Magno S et al.
Journal of Clinical Medicine, 2021
Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.
Soyaltin UE et al.
Clinical Diabetes and Endocrinology, 2020
Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.
Montenegro RM et al.
Frontiers in Endocrinology, 2018
Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.
Mory PB et al.
European Journal of Endocrinology, 2012
UNUSUAL PRESENTATIONS OF LMNA-ASSOCIATED LIPODYSTROPHY WITH COMPLEX PHENOTYPES AND GENERALIZED FAT LOSS: WHEN THE GENETIC DIAGNOSIS UNCOVERS NOVEL FEATURES.
de Andrade NXS et al.
Aace Clinical Case Reports, 0