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
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
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
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C.
Cecchetti C et al.
Frontiers in Endocrinology, 2021
Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis.
Widyastuti HP et al.
Bmc Medical Genetics, 2020
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.
Bernasconi P et al.
Nucleus (austin, Tex.), 2018
Gene screening facilitates diagnosis of complicated symptoms: A case report.
Duan H et al.
Molecular Medicine Reports, 2017
Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.
Leong IUS et al.
Medical Sciences (basel, Switzerland), 2017
New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.
Rogozhina Y et al.
Gene, 2016
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
Yassaee VR et al.
Gene, 2016
Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.
Zaragoza MV et al.
Plos One, 2016
Association of the LMNA gene single nucleotide polymorphism rs4641 with bdilated cardiomyopathy.
Yin J et al.
Genetics and Molecular Research : Gmr, 2015
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Barthélémy F et al.
European Journal of Human Genetics : Ejhg, 2015
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
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A.
Finsterer J et al.
Cardiology, 2015
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 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
Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: a case report.
Gersak K et al.
Molecular Medicine Reports, 2013
A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?
Ozcan D et al.
Annals of Dermatology, 2013
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.
Park J et al.
Journal of Clinical Neurology (seoul, Korea), 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
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
Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.
Ahmad Z et al.
Clinical Genetics, 2012
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
Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome.
Braddock SR et al.
American Journal of Medical Genetics. Part A, 2010
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
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome.
Torrelo A et al.
Journal of the American Academy of Dermatology, 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
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
Analysis of genetic variations of lamin A/C gene (LMNA) by denaturing high-performance liquid chromatography.
Taylor MR et al.
Journal of Biomolecular Screening, 2004
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