155 related articles for article (PubMed ID: 38715010)
1. Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing.
Kohansal E; Naderi N; Fazelifar AF; Maleki M; Kalayinia S
BMC Med Genomics; 2024 May; 17(1):126. PubMed ID: 38715010
[TBL] [Abstract][Full Text] [Related]
2. Identification of a novel pathogenic variant in
Fazelifar AF; Pourirahim M; Masoumi T; Biglari A; Maleki M; Kalayinia S
J Arrhythm; 2023 Jun; 39(3):430-453. PubMed ID: 37324772
[TBL] [Abstract][Full Text] [Related]
3. Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant.
Tobert KE; Tester DJ; Zhou W; Haglund-Turnquist CM; Giudicessi JR; Ackerman MJ
Heart Rhythm; 2022 Jun; 19(6):998-1007. PubMed ID: 35144019
[TBL] [Abstract][Full Text] [Related]
4. Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.
Chen J; Li H; Guo S; Yang Z; Sun S; Zeng J; Gou H; Chen Y; Wang F; Lin Y; Huang K; Yue H; Ma Y; Lin Y
Orphanet J Rare Dis; 2022 Oct; 17(1):394. PubMed ID: 36303204
[TBL] [Abstract][Full Text] [Related]
5. Functional testing for variant prioritization in a family with long QT syndrome.
Najari Beidokhti M; Bertalovitz AC; Ji W; McCormack J; Jeffries L; Sempou E; Khokha MK; McDonald TV; Lakhani SA
Mol Genet Genomics; 2021 Jul; 296(4):823-836. PubMed ID: 33876311
[TBL] [Abstract][Full Text] [Related]
6. Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases.
Du F; Wang G; Wang D; Su G; Yao G; Zhang W; Su G
Medicine (Baltimore); 2020 Apr; 99(16):e19749. PubMed ID: 32311972
[TBL] [Abstract][Full Text] [Related]
7. Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome.
Delinière A; Jaupart L; Janin A; Millat G; Boulin T; Andrini O; Chevalier P
Gene; 2024 Mar; 897():148076. PubMed ID: 38086455
[TBL] [Abstract][Full Text] [Related]
8. Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode.
Chen P; Zampawala Z; Wang H; Wang L
Front Genet; 2024; 15():1409459. PubMed ID: 38873110
[TBL] [Abstract][Full Text] [Related]
9. Functional characterization of a novel hERG variant in a family with recurrent sudden infant death syndrome: Retracting a genetic diagnosis.
Sergeev V; Perry F; Roston TM; Sanatani S; Tibbits GF; Claydon TW
Forensic Sci Int; 2018 Mar; 284():39-45. PubMed ID: 29331839
[TBL] [Abstract][Full Text] [Related]
10. Digenic heterozygous mutations of KCNH2 and SCN5A induced young and early-onset long QT syndrome and sinoatrial node dysfunction.
Yang Z; Ma Y; Huang J; Xian J; Huang Y; Wu L; Zhu W; Wang F; Chen L; Lin X; Lin Y
Ann Noninvasive Electrocardiol; 2022 Jan; 27(1):e12889. PubMed ID: 34755423
[TBL] [Abstract][Full Text] [Related]
11. KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
Liu W; Yang J; Hu D; Kang C; Li C; Zhang S; Li P; Chen Z; Qin X; Ying K; Li Y; Li Y; Li Z; Cheng X; Li L; Qi Y; Chen S; Wang Q
Hum Mutat; 2002 Dec; 20(6):475-6. PubMed ID: 12442276
[TBL] [Abstract][Full Text] [Related]
12. KCNH2 variants in a family with epilepsy and long QT syndrome: A case report and literature review.
Zhou Y; Hao N; Sander JW; Lin X; Xiong W; Zhou D
Epileptic Disord; 2023 Aug; 25(4):492-499. PubMed ID: 36946251
[TBL] [Abstract][Full Text] [Related]
13. Identification novel LQT syndrome-associated variants in Polish population and genotype-phenotype correlations in eight families.
Szperl M; Kozicka U; Kosiec A; Kukla P; Roszczynko M; Biernacka EK
J Appl Genet; 2018 Nov; 59(4):463-469. PubMed ID: 30244407
[TBL] [Abstract][Full Text] [Related]
14. Generation and characterization of an induced pluripotent stem cell (iPSC) line (NUIGi003-A) from a long QT syndrome type 2 (LQT2) patient harbouring the KCNH2 c.2464G>A pathogenic variant.
Ge N; Liu M; Krawczyk J; McInerney V; Ward D; Shen S; O'Brien T; Prendiville T
Stem Cell Res; 2020 Dec; 49():101997. PubMed ID: 33002718
[TBL] [Abstract][Full Text] [Related]
15. Elucidation of
Zhou W; Ye D; Tester DJ; Bains S; Giudicessi JR; Haglund-Turnquist CM; Orland KM; January CT; Eckhardt LL; Maginot KR; Ackerman MJ
Circ Genom Precis Med; 2023 Apr; 16(2):e003726. PubMed ID: 37071726
[TBL] [Abstract][Full Text] [Related]
16. Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise.
Landstrom AP; Fernandez E; Rosenfeld JA; Yang Y; Dailey-Schwartz AL; Miyake CY; Allen HD; Penny DJ; Kim JJ
Heart Rhythm; 2018 Jul; 15(7):1042-1050. PubMed ID: 29501670
[TBL] [Abstract][Full Text] [Related]
17. ANK2 functionally interacts with KCNH2 aggravating long QT syndrome in a double mutation carrier.
Gessner G; Runge S; Koenen M; Heinemann SH; Koenen M; Haas J; Meder B; Thomas D; Katus HA; Schweizer PA
Biochem Biophys Res Commun; 2019 May; 512(4):845-851. PubMed ID: 30929919
[TBL] [Abstract][Full Text] [Related]
18. Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome.
Altmann HM; Tester DJ; Will ML; Middha S; Evans JM; Eckloff BW; Ackerman MJ
Circulation; 2015 Jun; 131(23):2051-60. PubMed ID: 25922419
[TBL] [Abstract][Full Text] [Related]
19. Aborted Cardiac Arrest in LQT2 Related to Novel
Bileišienė N; Barysienė J; Mikštienė V; Preikšaitienė E; Marinskis G; Keževičiūtė M; Utkus A; Aidietis A
Medicina (Kaunas); 2021 Jul; 57(7):. PubMed ID: 34357002
[TBL] [Abstract][Full Text] [Related]
20. Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W; Makimoto H; Yamagata K; Kamakura T; Wada M; Miyamoto K; Inoue-Yamada Y; Okamura H; Ishibashi K; Noda T; Nagase S; Miyazaki A; Sakaguchi H; Shiraishi I; Makiyama T; Ohno S; Itoh H; Watanabe H; Hayashi K; Yamagishi M; Morita H; Yoshinaga M; Aizawa Y; Kusano K; Miyamoto Y; Kamakura S; Yasuda S; Ogawa H; Tanaka T; Sumitomo N; Hagiwara N; Fukuda K; Ogawa S; Aizawa Y; Makita N; Ohe T; Horie M; Aiba T
JAMA Cardiol; 2019 Mar; 4(3):246-254. PubMed ID: 30758498
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
