Literature DB >> 27286732

Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.

Kevin Bersell1, Jay A Montgomery1, Arvindh N Kanagasundram1, Courtney M Campbell1, Wendy K Chung1, Daniela Macaya1, David Konecki1, Eli Venter1, M Benjamin Shoemaker1, Dan M Roden2.   

Abstract

Entities:  

Keywords:  Jervell and Lange-Nielsen syndrome; KCNQ1; genetic testing; long QT syndrome; next-generation sequencing

Mesh：

Substances：

Year:  2016        PMID： 27286732      PMCID： PMC4905601          DOI： 10.1161/CIRCEP.116.004081

Source DB:  PubMed          Journal:  Circ Arrhythm Electrophysiol        ISSN： 1941-3084


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  4 in total

1.  Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X.

Authors:  J Wei; F A Fish; R J Myerburg; D M Roden; A L George
Journal:  Hum Mutat       Date:  2000-04       Impact factor: 4.878

Review 2.  Impact of genetics on the clinical management of channelopathies.

Authors:  Peter J Schwartz; Michael J Ackerman; Alfred L George; Arthur A M Wilde
Journal:  J Am Coll Cardiol       Date:  2013-05-15       Impact factor: 24.094

3.  Catecholamine-induced T-wave lability in congenital long QT syndrome: a novel phenomenon associated with syncope and cardiac arrest.

Authors:  Jan Nemec; Joseph B Hejlik; Win-Kuang Shen; Michael J Ackerman
Journal:  Mayo Clin Proc       Date:  2003-01       Impact factor: 7.616

4.  The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion.

Authors:  Katharina Wimmer; Tom Callens; Annekatrin Wernstedt; Ludwine Messiaen
Journal:  PLoS Genet       Date:  2011-11-17       Impact factor: 5.917
  4 in total

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