137 related articles for article (PubMed ID: 27917693)
1. Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome.
Wang C; Lu Y; Cheng J; Zhang L; Liu W; Peng W; Zhang D; Duan H; Han D; Yuan H
Acta Otolaryngol; 2017 May; 137(5):522-528. PubMed ID: 27917693
[TBL] [Abstract][Full Text] [Related]
2. Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous
Qiu Y; Chen S; Wu X; Zhang WJ; Xie W; Jin Y; Xie L; Xu K; Bai X; Zhang HM; Liu XZ; Wang XH; Sun Y; Kong WJ
Neural Plast; 2020; 2020():3569359. PubMed ID: 32508908
[TBL] [Abstract][Full Text] [Related]
3. "Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".
Uysal F; Turkgenc B; Toksoy G; Bostan OM; Evke E; Uyguner O; Yakicier C; Kayserili H; Cil E; Temel SG
BMC Med Genet; 2017 Oct; 18(1):114. PubMed ID: 29037160
[TBL] [Abstract][Full Text] [Related]
4. Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients.
Morgat C; Fressart V; Porretta AP; Neyroud N; Messali A; Temmar Y; Algalarrondo V; Surget E; Bloch A; Leenhardt A; Denjoy I; Extramiana F
Europace; 2024 Jun; 26(6):. PubMed ID: 38825991
[TBL] [Abstract][Full Text] [Related]
5. Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family.
Baek JS; Bae EJ; Lee SY; Park SS; Kim SY; Jung KN; Noh CI
J Korean Med Sci; 2010 Oct; 25(10):1522-5. PubMed ID: 20890437
[TBL] [Abstract][Full Text] [Related]
6. Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome.
Zhao N; Yu Z; Cai Z; Chen W; He X; Huo Z; Lin X
BMC Cardiovasc Disord; 2023 Aug; 23(1):399. PubMed ID: 37568094
[TBL] [Abstract][Full Text] [Related]
7. KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
Vyas B; Puri RD; Namboodiri N; Nair M; Sharma D; Movva S; Saxena R; Bohora S; Aggarwal N; Vora A; Kumar J; Singh T; Verma IC
Am J Med Genet A; 2016 Jun; 170(6):1510-9. PubMed ID: 27041150
[TBL] [Abstract][Full Text] [Related]
8. Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.
Zhang M; D'Aniello C; Verkerk AO; Wrobel E; Frank S; Ward-van Oostwaard D; Piccini I; Freund C; Rao J; Seebohm G; Atsma DE; Schulze-Bahr E; Mummery CL; Greber B; Bellin M
Proc Natl Acad Sci U S A; 2014 Dec; 111(50):E5383-92. PubMed ID: 25453094
[TBL] [Abstract][Full Text] [Related]
9. 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.
Zhang S; Yin K; Ren X; Wang P; Zhang S; Cheng L; Yang J; Liu JY; Liu M; Wang QK
BMC Med Genet; 2008 Apr; 9():24. PubMed ID: 18400097
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.
Ohno S; Kubota T; Yoshida H; Tsuji K; Makiyama T; Yamada S; Kuga K; Yamaguchi I; Kita T; Horie M
Circ J; 2008 May; 72(5):687-93. PubMed ID: 18441444
[TBL] [Abstract][Full Text] [Related]
11. Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome.
Vojdani S; Amirsalari S; Milanizadeh S; Molaei F; Ajalloueyane M; Khosravi A; Hamzehzadeh L; Ghasemi MM; Talee MR; Abbaszadegan MR
Fetal Pediatr Pathol; 2019 Aug; 38(4):273-281. PubMed ID: 30942114
[No Abstract] [Full Text] [Related]
12. De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.
Al-Aama JY; Al-Ghamdi S; Bdier AY; Wilde AA; Bhuiyan ZA
Clin Genet; 2014 Nov; 86(5):492-5. PubMed ID: 24125535
[TBL] [Abstract][Full Text] [Related]
13. Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome.
Wang RR; Li N; Zhang YH; Wang LL; Teng SY; Pu JL
Int J Mol Med; 2011 Jul; 28(1):41-6. PubMed ID: 21380488
[TBL] [Abstract][Full Text] [Related]
14. An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations.
Coto E; García-Fernández FJ; Calvo D; Salgado-Aranda R; Martín-González J; Alonso B; Iglesias S; Gómez J
Am J Med Genet A; 2017 Mar; 173(3):749-752. PubMed ID: 27868350
[TBL] [Abstract][Full Text] [Related]
15. [Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome].
Liu WL; Hu DY; Li P; Li CL; Qin XG; Li YT; Li L; Li ZM; Dong W; Qi Y; Wang Q
Zhonghua Xin Xue Guan Bing Za Zhi; 2005 Jan; 33(1):41-4. PubMed ID: 15924777
[TBL] [Abstract][Full Text] [Related]
16. Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.
Wang Z; Li H; Moss AJ; Robinson J; Zareba W; Knilans T; Bowles NE; Towbin JA
Mol Genet Metab; 2002 Apr; 75(4):308-16. PubMed ID: 12051962
[TBL] [Abstract][Full Text] [Related]
17. Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene.
Kılıç E; Ertuğrul İ; Özer S; Alikaşifoğlu M; Aktaş D; Boduroğlu K; Ütine GE
Turk J Pediatr; 2014; 56(5):542-5. PubMed ID: 26022593
[TBL] [Abstract][Full Text] [Related]
18. The combined novel KCNQ1 frameshift I145Sfs*92 and nonsense W392X variants caused Jervell and Lange-Nielsen syndrome in a Chinese infant presenting with sustained foetal bradycardia.
Zhang Y; Li X; Yang Y; Wang J; Gao X; Fan M
Europace; 2020 Dec; 22(12):1880-1884. PubMed ID: 32830254
[TBL] [Abstract][Full Text] [Related]
19. Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.
Al-Aama JY; Al-Ghamdi S; Bdier AY; AlQarawi A; Jiman OA; Al-Aama N; Al-Aata J; Wilde AA; Bhuiyan ZA
Clin Genet; 2015; 87(1):74-9. PubMed ID: 24372464
[TBL] [Abstract][Full Text] [Related]
20. Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?
Rice KS; Dickson G; Lane M; Crawford J; Chung SK; Rees MI; Shelling AN; Love DR; Skinner JR
Heart Rhythm; 2011 Apr; 8(4):551-4. PubMed ID: 21118729
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]