| 1 | JLNS1, KCNQ1
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| Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.
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| Al-Aama JY, Al-Ghamdi S, Bdier AY, AlQarawi A, Jiman OA, Al-Aama N, Al-Aata J, Wilde AA, Bhuiyan ZA.
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| Clin Genet 87(1):74-9. doi: 10.1111/cge.12330. Epub 2013 Dec 27.
2015
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| 2 | JLNS1, KCNQ1
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| Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome.
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| Zehelein J, Kathoefer S, Khalil M, Alter M, Thomas D, Brockmeier K, Ulmer HE, Katus HA, Koenen M.
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| J Biol Chem 281(46):35397-403. Epub 2006 Sep 19.
2006
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| 3 | JLNS1, KCNQ1
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| A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly.
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| Schmitt N, Schwarz M, Peretz A, Abitbol I, Attali B, Pongs O.
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| EMBO J 19(3):332-340 2000
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| 4 | JLNS2, JLNS1, KCNQ1
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| Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
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| Tyson J, Tranebjaerg L, McEntagart M, Larsen LA, Christiansen M, Whiteford ML, Bathen J, Aslaksen B, Sorland SJ, Lund O, Pembrey ME, Malcolm S, Bitner-Glindzicz M.
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| Hum Genet 107(5):499-503. Erratum in: Hum Genet 2001 Jan;108(1):75. 2000
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| 5 | KCNQ1, LQT1, JLNS1
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| Mutations in a Dominant-Negative Isoform Correlate with Phenotype in Inherited Cardiac Arrhythmias.
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| Mohammad-Panah R, et al.
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| Am J Hum Genet 64(4):1015-1023. 1999
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| 6 | KCNQ1, LQT1, JLNS1
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| Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.
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| Chen Q, et al.
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| Circulation 99(10):1344-7. 1999
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| 7 | CRABP1, CRABP2, JLNS1
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| Assignment of the genes for cellular retinoic acid binding protein 1 (CRABP1) and 2 (CRABP2) to human chromosome band 15q24 and 1q21.3, respectively, by in situ hybridization.
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| Flagiello D, Apiou F, Gibaud A, Poupon MF, Dutrillaux B, Malfoy B.
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| Cytogenet Cell Genet 76(1-2):17-8. 1997
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| 8 | KCNQ1, JLNS1, LQT1
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| Molecular basis of the long-QT syndrome associated with deafness.
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| Splawski I, et al.
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| N Engl J Med 336 : 1562-1567. 1997
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| 9 | JLNS1, KCNQ1, LQT1
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| Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.
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| Wollnik B, Schroeder BC, Kubisch C, Esperer HD, Wieacker P, Jentsch TJ.
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| Hum Mol Genet 6(11):1943-9. 1997
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| 10 | JLNS1, JLNS2, KCNQ1, KCNE1
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| IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.
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| Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor JF, Bathen J, Aslaksen B, Sorland SJ, Lund O, Malcolm S, Pembrey M, Bhattacharya S, Bitner-Glindzicz M.
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| Hum Mol Genet 6(12):2179-85. 1997
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