PMC Links for Books (Select 1498090) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 69320642.

Novel Compound Heterozygous Mutations in the KCNQ1 Gene Associated with Autosomal Recessive Long QT Syndrome (Jervell and Lange‐Nielsen syndrome)

Li Ning, Arthur J. Moss, Wojciech Zareba, Jennifer Robinson, Spencer Rosero, Dan Ryan, Ming Qi

Ann Noninvasive Electrocardiol. 2003 Jul; 8(3): 246–250. Published online 2003 Jul 8. doi: 10.1046/j.1542-474X.2003.08313.x

PMCID:: PMC6932064

Abstract Article PDF–149K

Select item 45447533.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 41510114.

Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome

Ji Yeon Sung, Eun Jung Bae, Seungman Park, So Yeon Kim, Ye Jin Hyun, Sung Sup Park, Moon-Woo Seong

Ann Lab Med. 2014 Sep; 34(5): 395–398. Published online 2014 Aug 21. doi: 10.3343/alm.2014.34.5.395

PMCID:: PMC4151011

Abstract Article PDF–768K

Select item 39439255.

Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort

Ruey-Kang R. Chang, Yueh-Tze Lan, Michael J. Silka, Hallie Morrow, Alan Kwong, Janna Smith-Lang, Robert Wallerstein, Henry J. Lin

J Pediatr. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: J Pediatr. 2014 Mar; 164(3): 590–595.e3. Published online 2013 Dec 31. doi: 10.1016/j.jpeds.2013.11.011

PMCID:: PMC3943925

Abstract Article PDF–2.2M

Select item 39422076.

Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families

Annika Winbo, Eva-Lena Stattin, Charlotte Nordin, Ulla-Britt Diamant, Johan Persson, Steen M Jensen, Annika Rydberg

BMC Cardiovasc Disord. 2014; 14: 22. Published online 2014 Feb 19. doi: 10.1186/1471-2261-14-22

PMCID:: PMC3942207

Abstract Article PDF–1.0M

Select item 35157797.

Not all Beta-Blockers are Equal in the Management of Long QT Syndrome Types 1 and 2: Higher Recurrence of Events under Metoprolol

Priya Chockalingam, Lia Crotti, Giulia Girardengo, Jonathan N. Johnson, Katy M. Harris, Jeroen F. van der Heijden, Richard N.W. Hauer, Britt M. Beckmann, Carla Spazzolini, Roberto Rordorf, Annika Rydberg, Sally-Ann B. Clur, Markus Fischer, Freek van den Heuvel, Stefan Kääb, Nico A. Blom, Michael J. Ackerman, Peter J. Schwartz, Arthur A.M. Wilde

J Am Coll Cardiol. Author manuscript; available in PMC 2013 Nov 13.

Published in final edited form as: J Am Coll Cardiol. 2012 Nov 13; 60(20): 2092–2099. Published online 2012 Oct 17. doi: 10.1016/j.jacc.2012.07.046

PMCID:: PMC3515779

Abstract Article PDF–1.0M

Select item 33592448.

Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation

Morten S Olesen, Bo H Bentzen, Jonas B Nielsen, Annette B Steffensen, Jens-Peter David, Javad Jabbari, Henrik K Jensen, Stig Haunsø, Jesper H Svendsen, Nicole Schmitt

BMC Med Genet. 2012; 13: 24. Published online 2012 Apr 3. doi: 10.1186/1471-2350-13-24

PMCID:: PMC3359244

Abstract Article PDF–1.9M

Select item 33544739.

Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome

Yuanfeng Gao, Cuilan Li, Wenling Liu, Robby Wu, Xiaoliang Qiu, Ruijuan Liang, Lei Li, Li Zhang, Dayi Hu

J Cardiovasc Dis Res. 2012 Apr-Jun; 3(2): 67–75. doi: 10.4103/0975-3583.95357

PMCID:: PMC3354473

Abstract Article PDF–2.7M

Select item 294666610.

Jervell and Lange-Nielsen Syndrome: Novel Compound Heterozygous Mutations in the KCNQ1 in a Korean Family

Jae Suk Baek, Eun Jung Bae, Sang Yun Lee, Sung Sup Park, So Yeon Kim, Kyu Nam Jung, Chung Il Noh

J Korean Med Sci. 2010 Oct; 25(10): 1522–1525. Published online 2010 Sep 20. doi: 10.3346/jkms.2010.25.10.1522

PMCID:: PMC2946666

Abstract Article PDF–843K

Select item 271973911.

Empirical correlation of triggered activity and spatial and temporal re-entrant substrates with arrhythmogenicity in a murine model for Jervell and Lange-Nielsen syndrome

Sandeep S. Hothi, Glyn Thomas, Matthew J. Killeen, Andrew A. Grace, Christopher L.-H. Huang

Pflugers Arch. 2009 Sep; 458(5): 819–835. Published online 2009 May 9. doi: 10.1007/s00424-009-0671-1

PMCID:: PMC2719739

Abstract Article PDF–557K

Select item 232296212.

Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family

Su Zhang, Ke Yin, Xiang Ren, Pengyun Wang, Shirong Zhang, Lingling Cheng, Junguo Yang, Jing Yu Liu, Mugen Liu, Qing Kenneth Wang

BMC Med Genet. 2008; 9: 24. Published online 2008 Apr 9. doi: 10.1186/1471-2350-9-24

PMCID:: PMC2322962

Abstract Article PDF–724K

Select item 207512613.

Mechanisms of ventricular arrhythmogenesis in mice following targeted disruption of KCNE1 modelling long QT syndrome 5

Glyn Thomas, Matthew J Killeen, Iman S Gurung, Parvez Hakim, Richard Balasubramaniam, Catharine A Goddard, Andrew A Grace, Christopher L-H Huang

J Physiol. 2007 Jan 1; 578(Pt 1): 99–114. Published online 2006 Nov 9. doi: 10.1113/jphysiol.2006.118133

PMCID:: PMC2075126

Abstract Article PDF–435K

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