BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 30942114)

  • 1. 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]  

  • 2. "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]  

  • 3. 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]  

  • 4. Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
    Faridi R; Tona R; Brofferio A; Hoa M; Olszewski R; Schrauwen I; Assir MZK; Bandesha AA; Khan AA; Rehman AU; Brewer C; Ahmed W; Leal SM; Riazuddin S; Boyden SE; Friedman TB
    Hum Mutat; 2019 Feb; 40(2):162-176. PubMed ID: 30461122
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).
    Ning L; Moss AJ; Zareba W; Robinson J; Rosero S; Ryan D; Qi M
    Ann Noninvasive Electrocardiol; 2003 Jul; 8(3):246-50. PubMed ID: 14510661
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome.
    Zehelein J; Kathoefer S; Khalil M; Alter M; Thomas D; Brockmeier K; Ulmer HE; Katus HA; Koenen M
    J Biol Chem; 2006 Nov; 281(46):35397-403. PubMed ID: 16987820
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
    Nishimura M; Ueda M; Ebata R; Utsuno E; Ishii T; Matsushita K; Ohara O; Shimojo N; Kobayashi Y; Nomura F
    BMC Med Genet; 2017 Jun; 18(1):66. PubMed ID: 28595573
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.
    Bhuiyan ZA; Momenah TS; Amin AS; Al-Khadra AS; Alders M; Wilde AA; Mannens MM
    Prog Biophys Mol Biol; 2008; 98(2-3):319-27. PubMed ID: 19027783
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. [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]  

  • 13. [Relationship between congenital long QT syndrome and Brugada syndrome gene mutation].
    Du R; Ren FX; Yang JG; Yuan GH; Zhang SY; Kang CL; Li W; Gui L; Li J
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2005 Jun; 27(3):289-94. PubMed ID: 16038262
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.
    Giudicessi JR; Ackerman MJ
    Circ Cardiovasc Genet; 2013 Apr; 6(2):193-200. PubMed ID: 23392653
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome].
    Mönnig G; Schulze-Bahr E; Wedekind H; Eckardt L; Kirchhof P; Funke H; Kotthoff S; Vogt J; Assmann G; Breithardt G; Haverkamp W
    Z Kardiol; 2002 May; 91(5):380-8. PubMed ID: 12132284
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. [Jervell and Lange-Nielsen syndrome].
    Zhang WJ; Sun Y; Kong WJ
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Sep; 33(9):825-829. PubMed ID: 31446697
    [No Abstract]   [Full Text] [Related]  

  • 19. Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.
    Chen Q; Zhang D; Gingell RL; Moss AJ; Napolitano C; Priori SG; Schwartz PJ; Kehoe E; Robinson JL; Schulze-Bahr E; Wang Q; Towbin JA
    Circulation; 1999 Mar; 99(10):1344-7. PubMed ID: 10077519
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.