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Items: 7

1.
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients
Wataru Shimizu, Hisaki Makimoto, Kenichiro Yamagata, Tsukasa Kamakura, Mitsuru Wada, Koji Miyamoto, Yuko Inoue-Yamada, Hideo Okamura, Kohei Ishibashi, Takashi Noda, Satoshi Nagase, Aya Miyazaki, Heima Sakaguchi, Isao Shiraishi, Takeru Makiyama, Seiko Ohno, Hideki Itoh, Hiroshi Watanabe, Kenshi Hayashi, Masakazu Yamagishi, Hiroshi Morita, Masao Yoshinaga, Yoshiyasu Aizawa, Kengo Kusano, Yoshihiro Miyamoto, Shiro Kamakura, Satoshi Yasuda, Hisao Ogawa, Toshihiro Tanaka, Naotaka Sumitomo, Nobuhisa Hagiwara, Keiichi Fukuda, Satoshi Ogawa, Yoshifusa Aizawa, Naomasa Makita, Tohru Ohe, Minoru Horie, Takeshi Aiba
JAMA Cardiol. 2019 Mar; 4(3): 246–254. Published online 2019 Feb 13. doi: 10.1001/jamacardio.2018.4925
Retraction in:
JAMA Cardiol. 2021 Apr 26
PMCID:
PMC6439560
AbstractArticle
2.
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice
Jesus Mates, Irene Mademont-Soler, Bernat del Olmo, Carles Ferrer-Costa, Monica Coll, Alexandra Pérez-Serra, Ferran Picó, Catarina Allegue, Anna Fernandez-Falgueras, Patricia Álvarez, Raquel Yotti, Maria Angeles Espinosa, Georgia Sarquella-Brugada, Sergi Cesar, Ester Carro, Josep Brugada, Elena Arbelo, Pablo Garcia-Pavia, Mar Borregan, Eduardo Tizzano, Amador López-Granados, Francisco Mazuelos, Aranzazu Díaz de Bustamante, Maria Teresa Darnaude, José Ignacio González-Hevia, Felícitas Díaz-Flores, Francisco Trujillo, Anna Iglesias, Francisco Fernandez-Aviles, Oscar Campuzano, Ramon Brugada
Eur J Hum Genet. 2018 Jul; 26(7): 1014–1025. Published online 2018 Mar 6. doi: 10.1038/s41431-018-0119-1
PMCID:
PMC6018743
AbstractArticlePDF–1.3M
3.
Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange‐Nielsen syndrome in 2 Iranian families
Azam Amirian, Zahra Zafari, Mohammad Dalili, Siamak Saber, Morteza Karimipoor, Samira Dabbagh Bagheri, Amir Farjam Fazelifar, Sirous Zeinali
J Arrhythm. 2018 Jun; 34(3): 286–290. Published online 2018 Apr 16. doi: 10.1002/joa3.12042
PMCID:
PMC6010008
AbstractArticlePDF–868K
4.
Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
Azam Amirian, Seyed Mohammad Dalili, Zahra Zafari, Siamak Saber, Morteza Karimipoor, Vahid Akbari, Amir Farjam Fazelifar, Sirous Zeinali
Iran J Basic Med Sci. 2018 Jan; 21(1): 108–111. doi: 10.22038/IJBMS.2017.23207.5908
PMCID:
PMC5776430
AbstractArticlePDF–980K
5.
Single Nucleotide Deletion Mutation of KCNH2 Gene is Responsible for LQT Syndrome in a 3-Generation Korean Family
Jong Keun Park, Yong-Seog Oh, Jee-hyun Choi, Sungjoo Kim Yoon
J Korean Med Sci. 2013 Sep; 28(9): 1388–1393. Published online 2013 Aug 28. doi: 10.3346/jkms.2013.28.9.1388
PMCID:
PMC3763117
AbstractArticlePDF–1.6M
6.
Polymorphisms but Not Mutations of the KCNQ1 Gene Are Associated with Lone Atrial Fibrillation in the Chinese Han Population
Hui-min Chu, Ming-jun Feng, Yi-gang Li, Yi-xin Zhang, Ji-fang Ma, Bin He, Yi-bo Yu, Jing Liu, Xiao-min Chen
ScientificWorldJournal. 2013; 2013: 373454. Published online 2013 Apr 18. doi: 10.1155/2013/373454
PMCID:
PMC3654283
AbstractArticlePDF–933K
7.
An 11p15 Imprinting Centre Region 2 Deletion in a Family with Beckwith Wiedemann Syndrome Provides Insights into Imprinting Control at CDKN1C
Elizabeth Algar, Vinod Dagar, Menka Sebaj, Nicholas Pachter
PLoS One. 2011; 6(12): e29034. Published online 2011 Dec 19. doi: 10.1371/journal.pone.0029034
PMCID:
PMC3242768
AbstractArticlePDF–365K

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