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Results: 1-9 |
Results: 9
MUTATIONS IN THE CHLORIDE CHANNEL GENE, CLCNKB, CAUSE BARTTERS-SYNDROME TYPE-III
Authors: SIMON DB BINDRA RS MANSFIELD TA NELSONWILLIAMS C MENDONCA E STONE R SCHURMAN S NAYIR A ALPAY H BAKKALOGLU A RODRIGUEZSORIANO J MORALES JM SANJAD SA TAYLOR CM PILZ D BREM A TRACHTMAN H GRISWOLD W RICHARD GA JOHN E LIFTON RP
Citation: Db. Simon et al., MUTATIONS IN THE CHLORIDE CHANNEL GENE, CLCNKB, CAUSE BARTTERS-SYNDROME TYPE-III, Nature genetics, 17(2), 1997, pp. 171-178
MUTATIONS IN SUBUNITS OF THE EPITHELIAL SODIUM-CHANNEL CAUSE SALT WASTING WITH HYPERKALEMIC ACIDOSIS, PSEUDOHYPOALDOSTERONISM TYPE-1
Authors: CHANG SS GRUNDER S HANUKOGLU A ROSLER A MATHEW PM HANUKOGLU I SCHILD L LU Y SHIMKETS RA NELSONWILLIAMS C ROSSIER BC LIFTON RP
Citation: Ss. Chang et al., MUTATIONS IN SUBUNITS OF THE EPITHELIAL SODIUM-CHANNEL CAUSE SALT WASTING WITH HYPERKALEMIC ACIDOSIS, PSEUDOHYPOALDOSTERONISM TYPE-1, Nature genetics, 12(3), 1996, pp. 248-253
GITELMANS VARIANT OF BARTTERS-SYNDROME, INHERITED HYPOKALEMIC ALKALOSIS, IS CAUSED BY MUTATIONS IN THE THIAZIDE-SENSITIVE NA-CL COTRANSPORTER
Authors: SIMON DB NELSONWILLIAMS C BIA MJ ELLISON D KARET FE MOLINA AM VAARA I IWATA F CUSHNER HM KOOLEN M GAINZA FJ GITELMAN HJ LIFTON RP
Citation: Db. Simon et al., GITELMANS VARIANT OF BARTTERS-SYNDROME, INHERITED HYPOKALEMIC ALKALOSIS, IS CAUSED BY MUTATIONS IN THE THIAZIDE-SENSITIVE NA-CL COTRANSPORTER, Nature genetics, 12(1), 1996, pp. 24-30
GENETIC-HETEROGENEITY OF INHERITED CEREBRAL CAVERNOUS MALFORMATION
Authors: GUNEL M AWAD IA FINBERG K STEINBERG GK CRAIG HD CEPEDA O NELSONWILLIAMS C LIFTON RP
Citation: M. Gunel et al., GENETIC-HETEROGENEITY OF INHERITED CEREBRAL CAVERNOUS MALFORMATION, Neurosurgery, 38(6), 1996, pp. 1265-1271
A FOUNDER MUTATION AS A CAUSE OF CEREBRAL CAVERNOUS MALFORMATION IN HISPANIC AMERICANS
Authors: GUNEL M AWAD IA FINBERG K ANSON JA STEINBERG GR BATJER PH KOPITNIK TA MORRISON L GIANNOTTA SL NELSONWILLIAMS C LIFTON RP
Citation: M. Gunel et al., A FOUNDER MUTATION AS A CAUSE OF CEREBRAL CAVERNOUS MALFORMATION IN HISPANIC AMERICANS, The New England journal of medicine, 334(15), 1996, pp. 946-951
HYPERTENSION CAUSED BY A TRUNCATED EPITHELIAL SODIUM-CHANNEL GAMMA-SUBUNIT - GENETIC-HETEROGENEITY OF LIDDLE SYNDROME
Authors: HANSSON JH NELSONWILLIAMS C SUZUKI H SCHILD L SHIMKETS R LU Y CANESSA C IWASAKI T ROSSIER B LIFTON RP
Citation: Jh. Hansson et al., HYPERTENSION CAUSED BY A TRUNCATED EPITHELIAL SODIUM-CHANNEL GAMMA-SUBUNIT - GENETIC-HETEROGENEITY OF LIDDLE SYNDROME, Nature genetics, 11(1), 1995, pp. 76-82
PROSPECTIVE SCREENING FOR LIDDLE SYNDROME - GENOTYPE-PHENOTYPE RELATIONSHIPS
Authors: HANSSON JH NELSONWILLIAMS C SHIMKETS R FINDLING J RAFF H WILSON T LIFTON RP
Citation: Jh. Hansson et al., PROSPECTIVE SCREENING FOR LIDDLE SYNDROME - GENOTYPE-PHENOTYPE RELATIONSHIPS, Journal of the American Society of Nephrology, 6(3), 1995, pp. 621-621
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 OF CHANNEL ACTIVITY
Authors: HANSSON JH SCHILD L LU Y WILSON TA GAUTSCHI I SHIMKETS R NELSONWILLIAMS C ROSSIER BC LIFTON RP
Citation: Jh. Hansson et al., 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 OF CHANNEL ACTIVITY, Proceedings of the National Academy of Sciences of the United Statesof America, 92(25), 1995, pp. 11495-11499
LIDDLES SYNDROME - HERITABLE HUMAN HYPERTENSION CAUSED BY MUTATIONS IN THE BETA-SUBUNIT OF THE EPITHELIAL SODIUM-CHANNEL
Authors: SHIMKETS RA WARNOCK DG BOSITIS CM NELSONWILLIAMS C HANSSON JH SCHAMBELAN M GILL JR ULICK S MILORA RV FINDLING JW CANESSA CM ROSSIER BC LIFTON RP
Citation: Ra. Shimkets et al., LIDDLES SYNDROME - HERITABLE HUMAN HYPERTENSION CAUSED BY MUTATIONS IN THE BETA-SUBUNIT OF THE EPITHELIAL SODIUM-CHANNEL, Cell, 79(3), 1994, pp. 407-414
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