Torthaí cuardaigh - Lifton, R P

Genetic determinants of human hypertension. de réir Lifton, R P

Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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... de réir Hansson, J H, Schild, L, Lu, Y, Wilson, T A, Gautschi, I, Shimkets, R, Nelson-Williams, C, Rossier, B C, Lifton, R P

Faigh an téacs iomlán Faigh an téacs iomlán

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis de réir 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.

Faigh an téacs iomlán Faigh an téacs iomlán

Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation de réir 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.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function de réir 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.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome de réir 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.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán