7 results for author:"Peiffer A." in Literature citations
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| AGT genetic variation, plasma AGT, and blood pressure: An analysis of the Utah Genetic Reference Project pedigrees. Watkins W.S., Rohrwasser A., Peiffer A., Leppert M.F., Lalouel J.M., Jorde L.B. Am. J. Hypertens. 23:917-923(2010) · Mapped (9) |
| A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. Singh N.A., Pappas C., Dahle E.J., Claes L.R., Pruess T.H., De Jonghe P., Thompson J., Dixon M., Gurnett C., Peiffer A. et al. PLoS Genet. 5:E1000649-E1000649(2009) · UniProtKB (1) · Mapped (12) |
| A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Risheg H., Graham J.M. Jr., Clark R.D., Rogers R.C., Opitz J.M., Moeschler J.B., Peiffer A.P., May M., Joseph S.M., Jones J.R. et al. |
| Further evidence for an association of ABCR alleles with age-related macular degeneration. Allikmets R., Tammur J., Hutchinson A., Lewis R.A., Shroyer N.F., Dalakishvili K., Lupski J.R., Steiner K., Pauleikhoff D., Holz F.G. et al. Am. J. Hum. Genet. 67:487-491(2000) · UniProtKB (1) |
| A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Singh N.A., Charlier C., Stauffer D., DuPont B.R., Leach R.J., Melis R., Ronen G.M., Bjerre I., Quattlebaum T., Murphy J.V. et al. Nat. Genet. 18:25-29(1998) · UniProtKB (1) |
| Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Allikmets R., Shroyer N.F., Singh N., Seddon J.M., Lewis R.A., Bernstein P.S., Peiffer A., Zabriskie N.A., Li Y., Hutchinson A. et al. |
| A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A. et al. |