Resultats de la cerca - Lifton, R P

Genetic determinants of human hypertension. per Lifton, R P

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Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. per Günel, M, Awad, I A, Anson, J, Lifton, R P

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Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. per Schild, L, Lu, Y, Gautschi, I, Schneeberger, E, Lifton, R P, Rossier, B C

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Variation of phenotype in patients with glucocorticoid remediable aldosteronism. per Gates, L J, MacConnachie, A A, Lifton, R P, Haites, N E, Benjamin, N

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A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system. per Schild, L, Canessa, C M, Shimkets, R A, Gautschi, I, Lifton, R P, Rossier, B C

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A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. per Gründer, S, Firsov, D, Chang, S S, Jaeger, N F, Gautschi, I, Schild, L, Lifton, R P, Rossier, B C

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A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation... per Hansson, J H, Schild, L, Lu, Y, Wilson, T A, Gautschi, I, Shimkets, R, Nelson-Williams, C, Rossier, B C, Lifton, R P

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Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis per Karet, F. E., Gainza, F. J., Györy, A. Z., Unwin, R. J., Wrong, O., Tanner, M. J. A., Nayir, A., Alpay, H., Santos, F., Hulton, S. A., Bakkaloglu, A., Ozen, S., Cunningham, M. J., di Pietro, A., Walker, W. G., Lifton, R. P.

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Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation per Boyden, L.M., Craiglow, B.G., Hu, R.H., Zhou, J., Browning, J., Eichenfield, L., Lim, Y.L., Luu, M., Randolph, L.M., Ginarte, M., Fachal, L., Rodriguez-Pazos, L., Vega, A., Kramer, D., Yosipovitch, G., Vahidnezhad, H., Youssefian, L., Uitto, J., Lifton, R.P., Paller, A.S., Milstone, L.M., Choate, K.A.

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Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up per Kadara, H, Choi, M, Zhang, J, Parra, E R, Rodriguez-Canales, J, Gaffney, S G, Zhao, Z, Behrens, C, Fujimoto, J, Chow, C, Yoo, Y, Kalhor, N, Moran, C, Rimm, D, Swisher, S, Gibbons, D L, Heymach, J, Kaftan, E, Townsend, J P, Lynch, T J, Schlessinger, J, Lee, J, Lifton, R P, Wistuba, I I, Herbst, R S

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Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up per Kadara, H, Choi, M, Zhang, J, Parra, E R, Rodriguez-Canales, J, Gaffney, S G, Zhao, Z, Behrens, C, Fujimoto, J, Chow, C, Yoo, Y, Kalhor, N, Moran, C, Rimm, D, Swisher, S, Gibbons, D L, Heymach, J, Kaftan, E, Townsend, J P, Lynch, T J, Schlessinger, J, Lee, J, Lifton, R P, Wistuba, I I, Herbst, R S

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Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function per Choi, M., Kadara, H., Zhang, J., Parra, E.R., Rodriguez-Canales, J., Gaffney, S.G., Zhao, Z., Behrens, C., Fujimoto, J., Chow, C., Kim, K., Kalhor, N., Moran, C., Rimm, D., Swisher, S., Gibbons, D.L., Heymach, J., Kaftan, E., Townsend, J.P., Lynch, T.J., Schlessinger, J., Lee, J., Lifton, R.P., Herbst, R.S., Wistuba, I.I.

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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome per Lopez-Rivera, E., Liu, Y.P., Verbitsky, M., Anderson, B.R., Capone, V.P., Otto, E.A., Yan, Z., Mitrotti, A., Martino, J., Steers, N.J., Fasel, D.A., Vukojevic, K., Deng, R., Racedo, S.E., Liu, Q., Werth, M., Westland, R., Vivante, A., Makar, G.S., Bodria, M., Sampson, M.G., Gillies, C.E., Vega-Warner, V., Maiorana, M., Petrey, D.S., Honig, B., Lozanovski, V.J., Salomon, R., Heidet, L., Carpentier, W., Gaillard, D., Carrea, A., Gesualdo, L., Cusi, D., Izzi, C., Scolari, F., van Wijk, J.A.E., Arapovic, A., Saraga-Babic, M., Saraga, M., Kunac, N., Samii, A., McDonald-McGinn, D.M., Crowley, T.B., Zackai, E.H., Drozdz, D., Miklaszewska, M., Tkaczyk, M., Sikora, P., Szczepanska, M., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Darlow, J.M., Puri, P., Barton, D., Casolari, E., Furth, S.L., Warady, B.A., Gucev, Z., Hakonarson, H., Flogelova, H., Tasic, V., Latos-Bielenska, A., Materna-Kiryluk, A., Allegri, L., Wong, C.S., Drummond, I.A., D’Agati, V., Imamoto, A., Barasch, J.M., Hildebrandt, F., Kiryluk, K., Lifton, R.P., Morrow, B.E., Jeanpierre, C., Papaioannou, V.E., Ghiggeri, G.M., Gharavi, A.G., Katsanis, N., Sanna-Cherchi, S.

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