Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center.
Kountouri A et al.
International Journal of Molecular Sciences, 2023
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 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
The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.
Klemke L et al.
Frontiers in Oncology, 2021
New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.
Rogozhina Y et al.
Gene, 2016
Novel linkage of LMNA Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study.
Banerjee A et al.
International Journal of Cardiology. Heart & Vasculature, 2015
Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.
Starke S et al.
Aging, 2013
Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy.
Refsgaard L et al.
Applied & Translational Genomics, 2012
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.
Reunert J et al.
European Journal of Human Genetics : Ejhg, 2012
Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5.
Carboni N et al.
Muscle & Nerve, 2011
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.
Millat G et al.
Clinical Biochemistry, 2009
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation.
Agarwal AK et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
An association of Hutchinson-Gilford progeria and malignancy.
Shalev SA et al.
American Journal of Medical Genetics. Part A, 2007
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
Novelli G et al.
American Journal of Human Genetics, 2002
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0