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Results 1 - 6 of 6 for Ackerman syndrome
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  1. ANK2 gene 
    ... article on PubMed Central Sherman J, Tester DJ, Ackerman MJ. Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. Heart Rhythm. ...
    https://medlineplus.gov/genetics/gene/ank2 - Genetics
  2. RAF1 gene 
    ... Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007 Aug;39( ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  3. SCN5A gene 
    ... Guicheney P, Wilde AA, Brugada R, Schott JJ, Ackerman MJ. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 Jan;7(1): ...
    https://medlineplus.gov/genetics/gene/scn5a - Genetics
  4. CAV3 gene 
    ... or Free article on PubMed Central Vatta M, Ackerman MJ, Ye ... is associated with long-QT syndrome. Circulation. 2006 Nov 14;114(20):2104-12. ...
    https://medlineplus.gov/genetics/gene/cav3 - Genetics
  5. GJA1 gene 
    ... Srinivas M, Tester DJ, Saffitz JE, Duffy HS, Ackerman MJ. Connexin43 mutation causes heterogeneous gap junction loss ... as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet. 2015 Jan 1;24(1): ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  6. NOTCH1 gene 
    ... McKellar SH, Tester DJ, Yagubyan M, Majumdar R, Ackerman MJ, Sundt TM 3rd. Novel NOTCH1 mutations in ... NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. Circ Cardiovasc Genet. 2015 ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics