Rezultati - Lifton, R P

Genetic determinants of human hypertension. od Lifton, R P

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Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. od 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. od 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. od 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. od 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. od 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... od 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 od 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 od 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 od 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 od 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 od 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 od 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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