Associated Papers
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
41509423 (PubMed )
Supplement: media-2.xlsx › mRNA_expression
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.
Fernández-Pombo A et al.
Diabetes, Obesity & 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
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
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
36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins
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
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.
Akinci B et al.
Metabolism: Clinical and Experimental, 2017
A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N).
Kutbay NO et al.
European Journal of Internal Medicine, 2016
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