BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

231 related articles for article (PubMed ID: 20111058)

  • 1. A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome.
    Chan HF; Chen ML; Su JJ; Ko LC; Lin CH; Wu RM
    J Hum Genet; 2010 Mar; 55(3):186-8. PubMed ID: 20111058
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.
    Ballester LY; Benson DW; Wong B; Law IH; Mathews KD; Vanoye CG; George AL
    Hum Mutat; 2006 Apr; 27(4):388. PubMed ID: 16541386
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotype variability in patients carrying KCNJ2 mutations.
    Kimura H; Zhou J; Kawamura M; Itoh H; Mizusawa Y; Ding WG; Wu J; Ohno S; Makiyama T; Miyamoto A; Naiki N; Wang Q; Xie Y; Suzuki T; Tateno S; Nakamura Y; Zang WJ; Ito M; Matsuura H; Horie M
    Circ Cardiovasc Genet; 2012 Jun; 5(3):344-53. PubMed ID: 22589293
    [TBL] [Abstract][Full Text] [Related]  

  • 4. T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.
    Tani Y; Miura D; Kurokawa J; Nakamura K; Ouchida M; Shimizu K; Ohe T; Furukawa T
    J Mol Cell Cardiol; 2007 Aug; 43(2):187-96. PubMed ID: 17582433
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome.
    Kim JB; Chung KW
    Pediatr Neurol; 2009 Dec; 41(6):464-6. PubMed ID: 19931173
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2.
    Modoni A; Bianchi ML; Vitulano N; Pagliarani S; Perna F; Sanna T; Rizzo V; Silvestri G
    Cardiology; 2011; 120(4):200-3. PubMed ID: 22286118
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue.
    Lim BC; Kim GB; Bae EJ; Noh CI; Hwang H; Kim KJ; Hwang YS; Ko TS; Chae JH
    J Child Neurol; 2010 Apr; 25(4):490-3. PubMed ID: 20382953
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.
    Davies NP; Imbrici P; Fialho D; Herd C; Bilsland LG; Weber A; Mueller R; Hilton-Jones D; Ealing J; Boothman BR; Giunti P; Parsons LM; Thomas M; Manzur AY; Jurkat-Rott K; Lehmann-Horn F; Chinnery PF; Rose M; Kullmann DM; Hanna MG
    Neurology; 2005 Oct; 65(7):1083-9. PubMed ID: 16217063
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome.
    Doi T; Makiyama T; Morimoto T; Haruna Y; Tsuji K; Ohno S; Akao M; Takahashi Y; Kimura T; Horie M
    Circ Cardiovasc Genet; 2011 Jun; 4(3):253-60. PubMed ID: 21493816
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.
    Limberg MM; Zumhagen S; Netter MF; Coffey AJ; Grace A; Rogers J; Böckelmann D; Rinné S; Stallmeyer B; Decher N; Schulze-Bahr E
    Basic Res Cardiol; 2013 May; 108(3):353. PubMed ID: 23644778
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Andersen-Tawil syndrome: definition of a neurocognitive phenotype.
    Yoon G; Quitania L; Kramer JH; Fu YH; Miller BL; Ptácek LJ
    Neurology; 2006 Jun; 66(11):1703-10. PubMed ID: 16769944
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [QTU pattern in a patient with the Anderson-Tawil syndrome].
    Ciurzyński M; Bienias P; Kostera-Pruszczyk A; Pruszczyk P
    Kardiol Pol; 2010 Mar; 68(3):339-41; discussion 342. PubMed ID: 20411461
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.
    Kokunai Y; Nakata T; Furuta M; Sakata S; Kimura H; Aiba T; Yoshinaga M; Osaki Y; Nakamori M; Itoh H; Sato T; Kubota T; Kadota K; Shindo K; Mochizuki H; Shimizu W; Horie M; Okamura Y; Ohno K; Takahashi MP
    Neurology; 2014 Mar; 82(12):1058-64. PubMed ID: 24574546
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.
    Choi BO; Kim J; Suh BC; Yu JS; Sunwoo IN; Kim SJ; Kim GH; Chung KW
    J Hum Genet; 2007; 52(3):280-283. PubMed ID: 17211524
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.
    Haruna Y; Kobori A; Makiyama T; Yoshida H; Akao M; Doi T; Tsuji K; Ono S; Nishio Y; Shimizu W; Inoue T; Murakami T; Tsuboi N; Yamanouchi H; Ushinohama H; Nakamura Y; Yoshinaga M; Horigome H; Aizawa Y; Kita T; Horie M
    Hum Mutat; 2007 Feb; 28(2):208. PubMed ID: 17221872
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.
    Zhang L; Benson DW; Tristani-Firouzi M; Ptacek LJ; Tawil R; Schwartz PJ; George AL; Horie M; Andelfinger G; Snow GL; Fu YH; Ackerman MJ; Vincent GM
    Circulation; 2005 May; 111(21):2720-6. PubMed ID: 15911703
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome.
    Ördög B; Hategan L; Kovács M; Seprényi G; Kohajda Z; Nagy I; Hegedűs Z; Környei L; Jost N; Katona M; Szekeres M; Forster T; Papp JG; Varró A; Sepp R
    Can J Physiol Pharmacol; 2015 Jul; 93(7):569-75. PubMed ID: 26103554
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.
    Kostera-Pruszczyk A; Potulska-Chromik A; Pruszczyk P; Bieganowska K; Miszczak-Knecht M; Bienias P; Szczałuba K; Lee HY; Quinn E; Ploski R; Kaminska A; Ptáček LJ
    Muscle Nerve; 2015 Feb; 51(2):192-6. PubMed ID: 24861851
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Sudden cardiac death in Andersen-Tawil syndrome.
    Peters S; Schulze-Bahr E; Etheridge SP; Tristani-Firouzi M
    Europace; 2007 Mar; 9(3):162-6. PubMed ID: 17272325
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome.
    Fukumura S; Yamauchi K; Kawanabe A; Yamamoto A; Nakaza M; Kubota T; Kato S; Sasaki R; Okamura Y; Takahashi MP
    J Neurol Sci; 2019 Dec; 407():116521. PubMed ID: 31669729
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.