检索结果 - Lifton, R P

Genetic determinants of human hypertension. 由 Lifton, R P

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