Associated Papers
Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants.
Vasandani C et al.
Journal of the Endocrine Society, 2022
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.
Glazer AM et al.
Circulation, 2022
Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.
Pessente GD et al.
Frontiers in Cardiovascular Medicine, 2022
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
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
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
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
Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders.
Finsterer J et al.
Clinical Medicine Insights. Cardiology, 2016
Laminopathy-inducing mutations reduce nuclear import of expressed prelamin A.
Kiel T et al.
The International Journal of Biochemistry & Cell Biology, 2014
Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.
Yang L et al.
Plos One, 2013
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.
Saha B et al.
Molecular Syndromology, 2010
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations.
Subramanyam L et al.
Clinical Genetics, 2010
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety.
Haque WA et al.
Diabetes Care, 2003
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0