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
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
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Zhao J et al.
Scientific Reports, 2022
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
Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene.
Zaragoza MV et al.
Cells, 2017
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
Variants of the lamin A/C (LMNA) gene in non-valvular atrial fibrillation patients: a possible pathogenic role of the Thr528Met mutation.
Saj M et al.
Molecular Diagnosis & Therapy, 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
A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report.
Botto N et al.
Cardiovascular Ultrasound, 2010
[A novel lamin A/C mutation in a family with dilated cardiomyopathy and a strong history of sudden cardiac death].
Andreassi MG et al.
Recenti Progressi in Medicina, 2010
Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.
Madej-Pilarczyk A et al.
American Journal of Medical Genetics. Part A, 2009
Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia.
Saga A et al.
The Tohoku Journal of Experimental Medicine, 2009
Mutations in the LMNA gene do not cause axonal CMT in Czech patients.
Lassuthová P et al.
Journal of Human Genetics, 2009
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.
Perrot A et al.
Basic Research in Cardiology, 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
Predictors of acquired lipodystrophy in juvenile-onset dermatomyositis and a gradient of severity.
Bingham A et al.
Medicine, 2008
An association of Hutchinson-Gilford progeria and malignancy.
Shalev SA et al.
American Journal of Medical Genetics. Part A, 2007
Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation.
Jacob KN et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Paternal origin of LMNA mutations in Hutchinson-Gilford progeria.
D'Apice MR et al.
Clinical Genetics, 2004
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