Associated Papers
Atypical clinical features in a young boy with LMNA mutation: expanding the spectrum of laminopathies.
Cantarutti N et al.
Cardiology in the Young, 2025
Liraglutide use in pediatric type 2 familial partial lipodystrophy caused by LMNA mutation: a case report.
Li Y et al.
Bmc Pediatrics, 2025
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.
Fernández-Pombo A et al.
Diabetes, Obesity & Metabolism, 2024
Severe familial dilated cardiomyopathy in a young adult due to a rare LMNA mutation: a case report.
Belcher AM et al.
European Heart Journal. Case Reports, 2024
Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.
Díaz-López EJ et al.
International Journal of Molecular Sciences, 2024
Navigating Lipodystrophy: Insights from Laminopathies and Beyond.
Krüger P et al.
International Journal of Molecular Sciences, 2024
Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.
Morguetti MJ et al.
Archives of Endocrinology and Metabolism, 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
Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.
Pande S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 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
Lipodystrophy-associated progeroid syndromes.
Araújo-Vilar D et al.
Hormones (athens, Greece), 2022
Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants.
Vasandani C et al.
Journal of the Endocrine Society, 2022
Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation.
Ceccarini G et al.
Journal of Endocrinological Investigation, 2022
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.
Campos JTAM et al.
Genetics and Molecular Biology, 2022
Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome.
Jang S et al.
Frontiers in Pediatrics, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Cardiac phenotype in familial partial lipodystrophy.
Eldin AJ et al.
Clinical Endocrinology, 2021
Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.
Turkyilmaz A et al.
Clinical Dysmorphology, 2021
Shared Genetic Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.
Sun Y et al.
Frontiers in Cardiovascular Medicine, 2021
Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature.
Youssef SJ et al.
The Annals of Otology, Rhinology, and Laryngology, 2020
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation.
Magno S et al.
Journal of the Endocrine Society, 2020
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.
Hussain I et al.
Journal of the Endocrine Society, 2020
Diagnostic Value of Anthropometric Measurements for Familial Partial Lipodystrophy, Dunnigan Variety.
Vasandani C et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Generation of an isogenic gene-corrected iPSC line (PUMCHi001-A-1) from a familial partial lipodystrophy type 2 (FPLD2) patient with a heterozygous R349W mutation in the LMNA gene.
Xiao C et al.
Stem Cell Research, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Generation of an integration-free induced pluripotent stem cell line (PUMCHi001-A) from a patient with familial partial lipodystrophy type 2 (FPLD2) carrying a heterozygous p.R349W (c.1045C > T) mutation in the LMNA gene.
Xiao C et al.
Stem Cell Research, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
A new type of familial partial lipodystrophy: distinctive fat distribution and proteinuria.
Yurekli B et al.
Endocrine Research, 2018
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
Yiş U et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.
Akinci B et al.
Metabolism: Clinical and Experimental, 2017
LMNA-associated partial lipodystrophy: anticipation of metabolic complications.
Jeru I et al.
Journal of Medical Genetics, 2017
Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort.
Ajluni N et al.
Clinical Endocrinology, 2017
Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation.
Fountas A et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2017
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Florwick A et al.
Frontiers in Genetics, 2017
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
van Spaendonck-Zwarts KY et al.
European Journal of Heart Failure, 2013
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.
Carboni N et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013
Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA.
Thong KM et al.
Nephron. Clinical Practice, 2013
Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.
Mory PB et al.
European Journal of Endocrinology, 2012
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
van Tintelen JP et al.
American Heart Journal, 2007
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0
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