These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

248 related articles for article (PubMed ID: 25224718)

  • 1. Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.
    Bagnall RD; Molloy LK; Kalman JM; Semsarian C
    BMC Med Genet; 2014 Sep; 15():99. PubMed ID: 25224718
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia.
    Fan LL; Huang H; Jin JY; Li JJ; Chen YQ; Xiang R
    Cytogenet Genome Res; 2019; 157(3):148-152. PubMed ID: 30630173
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.
    Kraoua L; Jaouadi H; Allouche M; Achour A; Kaouther H; Ahmed HB; Chaker L; Maazoul F; Ouarda F; Zaffran S; M'rad R
    Mol Genet Genomic Med; 2022 Jul; 10(7):e1954. PubMed ID: 35656879
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.
    Marsman RF; Barc J; Beekman L; Alders M; Dooijes D; van den Wijngaard A; Ratbi I; Sefiani A; Bhuiyan ZA; Wilde AA; Bezzina CR
    J Am Coll Cardiol; 2014 Jan; 63(3):259-66. PubMed ID: 24076290
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and Genetic Diagnosis of Nonischemic Sudden Cardiac Death.
    Jiménez-Jáimez J; Alcalde Martínez V; Jiménez Fernández M; Bermúdez Jiménez F; Rodríguez Vázquez Del Rey MDM; Perin F; Oyonarte Ramírez JM; López Fernández S; de la Torre I; García Orta R; González Molina M; Cabrerizo EM; Álvarez Abril B; Álvarez M; Macías Ruiz R; Correa C; Tercedor L
    Rev Esp Cardiol (Engl Ed); 2017 Oct; 70(10):808-816. PubMed ID: 28566242
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.
    Chiu C; Bagnall RD; Ingles J; Yeates L; Kennerson M; Donald JA; Jormakka M; Lind JM; Semsarian C
    J Am Coll Cardiol; 2010 Mar; 55(11):1127-35. PubMed ID: 20022194
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.
    Girolami F; Iascone M; Tomberli B; Bardi S; Benelli M; Marseglia G; Pescucci C; Pezzoli L; Sana ME; Basso C; Marziliano N; Merlini PA; Fornaro A; Cecchi F; Torricelli F; Olivotto I
    Circ Cardiovasc Genet; 2014 Dec; 7(6):741-50. PubMed ID: 25173926
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; Fung L; Jensen E; Oh F; Cung K; McCarthy LA; Tran CK; Hoang V; Hakim SA; Grosberg A
    PLoS One; 2016; 11(5):e0155421. PubMed ID: 27182706
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
    Bermúdez-Jiménez FJ; Carriel V; Brodehl A; Alaminos M; Campos A; Schirmer I; Milting H; Abril BÁ; Álvarez M; López-Fernández S; García-Giustiniani D; Monserrat L; Tercedor L; Jiménez-Jáimez J
    Circulation; 2018 Apr; 137(15):1595-1610. PubMed ID: 29212896
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ryanodine receptor mutations presenting as idiopathic ventricular fibrillation: a report on two novel familial compound mutations, c.6224T>C and c.13781A>G, with the clinical presentation of idiopathic ventricular fibrillation.
    Paech C; Gebauer RA; Karstedt J; Marschall C; Bollmann A; Husser D
    Pediatr Cardiol; 2014 Dec; 35(8):1437-41. PubMed ID: 24950728
    [TBL] [Abstract][Full Text] [Related]  

  • 11. IDENTIFYING NEW SUDDEN DEATH GENES.
    London B; Greiner AM; Mehdi H; Gutmann R
    Trans Am Clin Climatol Assoc; 2018; 129():183-184. PubMed ID: 30166713
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation of dipeptidyl aminopeptidase-like protein-6 in a family with suspicious idiopathic ventricular fibrillation.
    Ding DB; Fan LL; Xiao Z; Huang H; Chen YQ; Guo S; Liu ZH; Xiang R
    QJM; 2018 Jun; 111(6):373-377. PubMed ID: 29474731
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.
    Anderson JH; Tester DJ; Will ML; Ackerman MJ
    Circ Cardiovasc Genet; 2016 Jun; 9(3):259-65. PubMed ID: 27114410
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular genetic diagnostics for ventricular arrhythmias and sudden cardiac death syndromes.
    Stallmeyer B; Dittmann S; Seebohm G; Müller J; Schulze-Bahr E
    Herz; 2017 Aug; 42(5):476-484. PubMed ID: 28616646
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.
    Boczek NJ; Ye D; Jin F; Tester DJ; Huseby A; Bos JM; Johnson AJ; Kanter R; Ackerman MJ
    Circ Arrhythm Electrophysiol; 2015 Oct; 8(5):1122-32. PubMed ID: 26253506
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
    Tester DJ; Bombei HM; Fitzgerald KK; Giudicessi JR; Pitel BA; Thorland EC; Russell BG; Hamrick SK; Kim CSJ; Haglund-Turnquist CM; Johnsrude CL; Atkins DL; Ochoa Nunez LA; Law I; Temple J; Ackerman MJ
    JAMA Cardiol; 2020 Mar; 5(3):13-18. PubMed ID: 31913406
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood.
    Fernlund E; Andersson O; Ellegård R; Årstrand HK; Green H; Olsson H; Gunnarsson C
    Forensic Sci Int Genet; 2019 Nov; 43():102111. PubMed ID: 31563034
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sudden death and cardiac arrest without phenotype: the utility of genetic testing.
    Wijeyeratne YD; Behr ER
    Trends Cardiovasc Med; 2017 Apr; 27(3):207-213. PubMed ID: 27692676
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
    Nunn LM; Lopes LR; Syrris P; Murphy C; Plagnol V; Firman E; Dalageorgou C; Zorio E; Domingo D; Murday V; Findlay I; Duncan A; Carr-White G; Robert L; Bueser T; Langman C; Fynn SP; Goddard M; White A; Bundgaard H; Ferrero-Miliani L; Wheeldon N; Suvarna SK; O'Beirne A; Lowe MD; McKenna WJ; Elliott PM; Lambiase PD
    Europace; 2016 Jun; 18(6):888-96. PubMed ID: 26498160
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy.
    Turkowski KL; Tester DJ; Bos JM; Haugaa KH; Ackerman MJ
    Congenit Heart Dis; 2017 Mar; 12(2):226-235. PubMed ID: 28326674
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.