PMC Links for Nucleotide (Select 1813769899) - PMC

Select item 61278901.

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta

Thorsteinn Bjornsson, Rosa B Thorolfsdottir, Gardar Sveinbjornsson, Patrick Sulem, Gudmundur L Norddahl, Anna Helgadottir, Solveig Gretarsdottir, Audur Magnusdottir, Ragnar Danielsen, Emil L Sigurdsson, Berglind Adalsteinsdottir, Sverrir I Gunnarsson, Ingileif Jonsdottir, David O Arnar, Hrodmar Helgason, Tomas Gudbjartsson, Daniel F Gudbjartsson, Unnur Thorsteinsdottir, Hilma Holm, Kari Stefansson

Eur Heart J. 2018 Sep 7; 39(34): 3243–3249. Published online 2018 Mar 24. doi: 10.1093/eurheartj/ehy142

PMCID:: PMC6127890

Abstract Article PDF–359K

Select item 60293982.

Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease

Ehsan Razmara, Masoud Garshasbi

BMC Cardiovasc Disord. 2018; 18: 137. Published online 2018 Jul 3. doi: 10.1186/s12872-018-0867-4

PMCID:: PMC6029398

Abstract Article PDF–1.0M

Select item 58493543.

Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES)

Yong Liu, Yu Cao, Yaxiong Li, Dongyun Lei, Lin Li, Zong Liu Hou, Shen Han, Mingyao Meng, Jianlin Shi, Yayong Zhang, Yi Wang, Zhaoyi Niu, Yanhua Xie, Benshan Xiao, Yuanfei Wang, Xiao Li, Lirong Yang, Wenju Wang, Lihong Jiang

Med Sci Monit. 2018; 24: 1340–1358. Published online 2018 Mar 5. doi: 10.12659/MSM.908923

PMCID:: PMC5849354

Abstract Article PDF–4.2M

Select item 56750004.

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Sheng Chih Jin, Jason Homsy, Samir Zaidi, Qiongshi Lu, Sarah Morton, Steven R. DePalma, Xue Zeng, Hongjian Qi, Weni Chang, Michael C. Sierant, Wei-Chien Hung, Shozeb Haider, Junhui Zhang, James Knight, Robert D. Bjornson, Christopher Castaldi, Irina R. Tikhonoa, Kaya Bilguvar, Shrikant M. Mane, Stephan J. Sanders, Seema Mital, Mark Russell, William Gaynor, John Deanfield, Alessandro Giardini, George A. Porter, Jr., Deepak Srivastava, Cecelia W. Lo, Yufeng Shen, W. Scott Watkins, Mark Yandell, H. Joseph Yost, Martin Tristani-Firouzi, Jane W. Newburger, Amy E. Roberts, Richard Kim, Hongyu Zhao, Jonathan R. Kaltman, Elizabeth Goldmuntz, Wendy K. Chung, Jonathan G. Seidman, Bruce D. Gelb, Christine E. Seidman, Richard P. Lifton, Martina Brueckner

Nat Genet. Author manuscript; available in PMC 2018 Apr 9.

Published in final edited form as: Nat Genet. 2017 Nov; 49(11): 1593–1601. Published online 2017 Oct 9. doi: 10.1038/ng.3970

PMCID:: PMC5675000

Abstract Article PDF–1.2M

Select item 16838775.

A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12

Scott D. Solomon, Anja A. T. Geisterfer-Lowrance, Hans-Peter Vosberg, Gudrun Hiller, John A. Jarcho, Cynthia C. Morton, Wesley O. McBride, Anna L. Mitchell, Allen E. Bale, William J. McKenna, J. G. Seidman, Christine E. Seidman

Am J Hum Genet. 1990 Sep; 47(3): 389–394.

PMCID:: PMC1683877

Summary Page Browse PDF–856K

Select item 58475176.

Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy

Patrícia B. S. Celestino-Soper, Ty C. Lynnes, Lili Zhang, Karen Ouyang, Samuel Wann, Victoria L. Clyde, Matteo Vatta

Sci Rep. 2018; 8: 4350. Published online 2018 Mar 12. doi: 10.1038/s41598-018-22334-5

PMCID:: PMC5847517

Abstract Article PDF–1.7M

Select item 54663857.

Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing

Yue Zhao, Yue Feng, Xiaoxue Ding, Shuwei Dong, Hong Zhang, Jiahuan Ding, Xueshan Xia

Int J Mol Med. 2017 Jul; 40(1): 121–129. Published online 2017 May 11. doi: 10.3892/ijmm.2017.2986

PMCID:: PMC5466385

Abstract Article PDF–1.2M

Select item 44951828.

Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy

Yue Zhao, Yue Feng, Yun-Mei Zhang, Xiao-Xue Ding, Yu-Zhu Song, A-Mei Zhang, Li Liu, Hong Zhang, Jia-Huan Ding, Xue-Shan Xia

Biomed Res Int. 2015; 2015: 561819. Published online 2015 Jun 24. doi: 10.1155/2015/561819

PMCID:: PMC4495182

Abstract Article PDF–1.5M

Select item 43794869.

Molecular Diagnosis of Long-QT syndrome at 10 Days of Life by Rapid Whole Genome Sequencing

James R. Priest, Scott R. Ceresnak, Frederick E. Dewey, Lindsey E. Malloy-Walton, Kyla Dunn, Megan E. Grove, Marco V. Perez, Katsuhide Maeda, Anne M. Dubin, Euan A. Ashley

Heart Rhythm. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Heart Rhythm. 2014 Oct; 11(10): 1707–1713. Published online 2014 Jun 25. doi: 10.1016/j.hrthm.2014.06.030

PMCID:: PMC4379486

Abstract Article PDF–201K

Select item 386516110.

Poor Prognosis of Rare Sarcomeric Gene Variants in Patients with Dilated Cardiomyopathy

Marco Merlo, Gianfranco Sinagra, Elisa Carniel, Dobromir Slavov, Xiao Zhu, Giulia Barbati, Anita Spezzacatene, Federica Ramani, Ernesto Salcedo, Andrea Di Lenarda, Luisa Mestroni, Matthew R. G. Taylor, on behalf of the Familial Cardiomyopathy Registry

Clin Transl Sci. 2013 Dec; 6(6): 424–428. Published online 2013 Oct 3. doi: 10.1111/cts.12116

PMCID:: PMC3865161

Abstract Article PDF–302K

Select item 335919911.

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira, Vasco Lança, Dulce Brito, Hugo Madeira, J Fonseca Esteves, António Freitas, Isabel M Carreira, Isabel M Gaspar, Carolino Monteiro, Alexandra R Fernandes

BMC Med Genet. 2012; 13: 17. Published online 2012 Mar 19. doi: 10.1186/1471-2350-13-17

PMCID:: PMC3359199

Abstract Article PDF–1.5M

Select item 332956812.

Exome Analysis of a Family with Pleiotropic Congenital Heart Disease

Cammon B. Arrington, Steven B. Bleyl, Norisada Matsunami, Gabriel D. Bonnell, Brith E.M. Otterud, Douglas C. Nielsen, Jeffrey Stevens, Shawn Levy, Mark F. Leppert, Neil E. Bowles

Circ Cardiovasc Genet. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: Circ Cardiovasc Genet. 2012 Apr 1; 5(2): 175–182. Published online 2012 Feb 15. doi: 10.1161/CIRCGENETICS.111.961797

PMCID:: PMC3329568

Abstract Article PDF–499K

Select item 277055613.

Transcription factor site dependencies in human, mouse and rat genomes

Andrija Tomovic, Michael Stadler, Edward J Oakeley

BMC Bioinformatics. 2009; 10: 339. Published online 2009 Oct 16. doi: 10.1186/1471-2105-10-339

PMCID:: PMC2770556

Abstract Article PDF–345K

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