Canlyniadau Chwilio - Lifton, R P

Genetic determinants of human hypertension. gan Lifton, R P

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