These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 17074643)

  • 21. Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.
    Lu CW; Lin JH; Rajawat YS; Jerng H; Rami TG; Sanchez X; DeFreitas G; Carabello B; DeMayo F; Kearney DL; Miller G; Li H; Pfaffinger PJ; Bowles NE; Khoury DS; Towbin JA
    J Med Genet; 2006 Aug; 43(8):653-9. PubMed ID: 16571646
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Bioinformatics characterisation of the (mutated) proteins related to Andersen-Tawil syndrome.
    Polanco C; Uversky VN; Márquez MF; Buhse T; Estrada MA; Huberman A
    Math Biosci Eng; 2019 Mar; 16(4):2532-2548. PubMed ID: 31137226
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [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]  

  • 24. 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]  

  • 25. Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.
    Yoon G; Oberoi S; Tristani-Firouzi M; Etheridge SP; Quitania L; Kramer JH; Miller BL; Fu YH; Ptácek LJ
    Am J Med Genet A; 2006 Feb; 140(4):312-21. PubMed ID: 16419128
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism.
    Hasegawa K; Ohno S; Kimura H; Itoh H; Makiyama T; Yoshida Y; Horie M
    Clin Genet; 2015 Mar; 87(3):279-83. PubMed ID: 24635491
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation.
    Díaz-Manera J; Querol L; Clarimón J; Yagüe S; Illa I
    Clin Neurophysiol; 2011 Dec; 122(12):2537-9. PubMed ID: 21640645
    [No Abstract]   [Full Text] [Related]  

  • 29. Andersen-Tawil Syndrome with Early Onset Myopathy: 2 Cases.
    Oz Tuncer G; Teber S; Kutluk MG; Albayrak P; Deda G
    J Neuromuscul Dis; 2017; 4(1):93-95. PubMed ID: 28106564
    [No Abstract]   [Full Text] [Related]  

  • 30. Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome.
    Marrus SB; Cuculich PS; Wang W; Nerbonne JM
    Channels (Austin); 2011; 5(6):500-9. PubMed ID: 22186697
    [TBL] [Abstract][Full Text] [Related]  

  • 31. IK1: the long and the short QT of it.
    Gross GJ
    Heart Rhythm; 2006 Mar; 3(3):336-8. PubMed ID: 16500307
    [No Abstract]   [Full Text] [Related]  

  • 32. Neurophysiologic characterization of periodic paralysis episode in a patient with Andersen-Tawil syndrome.
    Falcão de Campos C; de Carvalho M
    Clin Neurophysiol; 2018 Mar; 129(3):558-559. PubMed ID: 29353185
    [No Abstract]   [Full Text] [Related]  

  • 33. Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.
    Scheiper S; Hertel B; Beckmann BM; Kääb S; Thiel G; Kauferstein S
    BMC Med Genet; 2017 Oct; 18(1):113. PubMed ID: 29017447
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Vanishing Weakness and Persistent Cardiac Dysrhythmia: Are We Dealing with Andersen Tawil Syndrome?
    Jhansi Rani P; Yashodhara P; Sundarachary NV; Veeramma U; Elahi SM; Amalakanti S; Lalitha A
    Indian J Pediatr; 2015 Jul; 82(7):642-4. PubMed ID: 25616308
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient.
    Déri S; Borbás J; Hartai T; Hategan L; Csányi B; Visnyovszki Á; Madácsy T; Maléth J; Hegedűs Z; Nagy I; Arora R; Labro AJ; Környei L; Varró A; Sepp R; Ördög B
    Cardiovasc Res; 2021 Jul; 117(8):1923-1934. PubMed ID: 32810216
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Phenotypic Findings in Patients With
    O'Hare M; Sadjadi R
    Neurology; 2022 May; 98(20):847-848. PubMed ID: 35351792
    [No Abstract]   [Full Text] [Related]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 7.