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Results: 1-25 | 26-30
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PHYSIOLOGY AND PATHOPHYSIOLOGY OF THE AQUAPORIN-2 WATER CHANNEL
Authors: DEEN PMT KNOERS NVAM
Citation: Pmt. Deen et Nvam. Knoers, PHYSIOLOGY AND PATHOPHYSIOLOGY OF THE AQUAPORIN-2 WATER CHANNEL, Current opinion in nephrology and hypertension, 7(1), 1998, pp. 37-42
AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA AND CONE-ROD DYSTROPHY CAUSED BY SPLICE-SITE MUTATIONS IN THE STARGARDTS-DISEASE GENE ABCR
Authors: DENHOLLANDER A VANDEPOL DJR VANDRIEL M VANHAREN FJJ KNOERS NVAM TIJMES N BERGEN AAB ROHRSCHNEIDER K BLANKENAGEL A PINCKERS AJLG DEUTMAN AF HOYNG CB CREMERS FPM
Citation: A. Denhollander et al., AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA AND CONE-ROD DYSTROPHY CAUSED BY SPLICE-SITE MUTATIONS IN THE STARGARDTS-DISEASE GENE ABCR, European journal of human genetics, 6, 1998, pp. 501-501
AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA AND CONE-ROD DYSTROPHY CAUSED BY SPLICE-SITE MUTATIONS IN THE STARGARDTS-DISEASE GENE ABCR
Authors: CREMERS FPM VANDEPOL DJR VANDRIEL M DENHOLLANDER AI VANHAREN FJJ KNOERS NVAM TIJMES N BERGEN AAB ROHRSCHNEIDER K BLANKENAGEL A PINCKERS AJLG DEUTMAN AF HOYNG CB
Citation: Fpm. Cremers et al., AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA AND CONE-ROD DYSTROPHY CAUSED BY SPLICE-SITE MUTATIONS IN THE STARGARDTS-DISEASE GENE ABCR, Human molecular genetics, 7(3), 1998, pp. 355-362
NOVEL MUTATIONS IN THE THIAZIDE-SENSITIVE NACL COTRANSPORTER GENE IN PATIENTS WITH GITELMAN-SYNDROME WITH PREDOMINANT LOCALIZATION TO THE C-TERMINAL DOMAIN
Authors: LEMMINK HH KNOERS NVAM KAROLYI L VANDIJK H NIAUDET P ANTIGNAC C GUAYWOODFORD LM GOODYER PR CAREL JC HERMES A SEYBERTH HW MONNENS LAH VANDENHEUVEL LPWJ
Citation: Hh. Lemmink et al., NOVEL MUTATIONS IN THE THIAZIDE-SENSITIVE NACL COTRANSPORTER GENE IN PATIENTS WITH GITELMAN-SYNDROME WITH PREDOMINANT LOCALIZATION TO THE C-TERMINAL DOMAIN, Kidney international, 54(3), 1998, pp. 720-730
VASOPRESSIN TYPE-2 RECEPTOR AND AQUAPORIN-2 WATER CHANNEL MUTANTS IN NEPHROGENIC DIABETES-INSIPIDUS
Authors: DEEN PMT KNOERS NVAM
Citation: Pmt. Deen et Nvam. Knoers, VASOPRESSIN TYPE-2 RECEPTOR AND AQUAPORIN-2 WATER CHANNEL MUTANTS IN NEPHROGENIC DIABETES-INSIPIDUS, The American journal of the medical sciences, 316(5), 1998, pp. 300-309
NOVEL MOLECULAR VARIANTS OF THE NA-K-2CL COTRANSPORTER GENE ARE RESPONSIBLE FOR ANTENATAL BARTTER-SYNDROME
Authors: VARGASPOUSSOU R FELDMANN D VOLLMER M KONRAD M KELLY L VANDENHEUVEL LPWJ TEBOURBI L BRANDIS M KAROLYI L HEBERT SC LEMMINK HH DESCHENES G HILDEBRANDT F SEYBERTH HW GUAYWOODFORD LM KNOERS NVAM ANTIGNAC C
Citation: R. Vargaspoussou et al., NOVEL MOLECULAR VARIANTS OF THE NA-K-2CL COTRANSPORTER GENE ARE RESPONSIBLE FOR ANTENATAL BARTTER-SYNDROME, American journal of human genetics, 62(6), 1998, pp. 1332-1340
FUNCTIONAL-ANALYSIS OF ROMK GENE-MUTATIONS IN ANTENATAL BARTTER-SYNDROME
Authors: LEMMINK HH VANDENHEUVEL LPWJ BUSKENS C KANSEN M VANDERKEMP A MONNENS LAH VANOS CH KNOERS NVAM BINDELS RJ
Citation: Hh. Lemmink et al., FUNCTIONAL-ANALYSIS OF ROMK GENE-MUTATIONS IN ANTENATAL BARTTER-SYNDROME, Journal of the American Society of Nephrology, 8, 1997, pp. 1815-1815
NEW MUTATIONS IN THE AQP2 GENE IN NEPHROGENIC DIABETES-INSIPIDUS RESULTING IN FUNCTIONAL BUT MISROUTED WATER CHANNELS
Authors: MULDERS SM KNOERS NVAM VANLIEBURG AF MONNENS LAH LEUMANN E WUHL E SCHOBER E RIJSS JPL VANOS CH DEEN PMT
Citation: Sm. Mulders et al., NEW MUTATIONS IN THE AQP2 GENE IN NEPHROGENIC DIABETES-INSIPIDUS RESULTING IN FUNCTIONAL BUT MISROUTED WATER CHANNELS, Journal of the American Society of Nephrology, 8(2), 1997, pp. 242-248
A COMMON NKCC2 MUTATION IN COSTA-RICAN BARTTERS-SYNDROME PATIENTS - EVIDENCE FOR A FOUNDER EFFECT
Authors: KURTZ CL KAROLYI L SEYBERTH HW KOCH MC VARGAS R FELDMANN D VOLLMER M KNOERS NVAM MADRIGAL G GUAYWOODFORD LM
Citation: Cl. Kurtz et al., A COMMON NKCC2 MUTATION IN COSTA-RICAN BARTTERS-SYNDROME PATIENTS - EVIDENCE FOR A FOUNDER EFFECT, Journal of the American Society of Nephrology, 8(11), 1997, pp. 1706-1711
MUTATIONS IN THE GENE ENCODING THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL, ROMK, CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY (VOL 6, PG 17, 1997)
Authors: KAROLYI L KONRAD M KOCKERLING A ZIEGLER A ZIMMERMANN DK ROTH B WIEG C GRZESCHIK KH KOCH MC SEYBERTH HW VARGAS R FORESTIER L JEAN G DESCHAUX M RIZZONI GF NIAUDET P ANTIGNAC C FELDMANN D LORRIDON F COUGOUREUX E LAROZE F ALESSANDRI JL DAVID L SAUNIER P DESCHENES G HILDEBRANDT F VOLLMER M PROESMANS W BRANDIS M VANDENHEUVEL LPWJ LEMMINK HH NILLESEN W MONNENS LAH KNOERS NVAM GUAYWOODFORD LM WRIGHT CJ MADRIGAL G HEBERT SC
Citation: L. Karolyi et al., MUTATIONS IN THE GENE ENCODING THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL, ROMK, CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY (VOL 6, PG 17, 1997), Human molecular genetics, 6(4), 1997, pp. 650-650
MUTATIONS IN THE GENE ENCODING THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL, ROMK, CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: KAROLYI L KONRAD M KOCKERLING A ZIEGLER A ZIMMERMANN DK ROTH B WIEG C GRZESCHIK KH KOCH MC SEYBERTH HW VARGAS R FORESTIER L JEAN G DESCHAUX M RIZZONI GF NIAUDET P ANTIGNAC C FELDMANN D LORRIDON F COUGOUREUX E LAROZE F ALESSANDRI JL DAVID L SAUNIER P DESCHENES G HILDEBRANDT F VOLLMER M PROESMANS W BRANDIS M VANDENHEUVEL LPJ LEMMINK HH NILLESEN W MONNENS LAH KNOERS NVAM GUAYWOODFORD LM WRIGHT CJ MADRIGAL G HEBERT SC
Citation: L. Karolyi et al., MUTATIONS IN THE GENE ENCODING THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL, ROMK, CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY, Human molecular genetics, 6(1), 1997, pp. 17-26
AUTOSOMAL RECESSIVE NEPHROGENIC DIABETES-INSIPIDUS CAUSED BY AN AQUAPORIN-2 MUTATION
Authors: HOCHBERG Z VANLIEBURG A EVEN L BRENNER B LANIR N VANOOST BA KNOERS NVAM
Citation: Z. Hochberg et al., AUTOSOMAL RECESSIVE NEPHROGENIC DIABETES-INSIPIDUS CAUSED BY AN AQUAPORIN-2 MUTATION, The Journal of clinical endocrinology and metabolism, 82(2), 1997, pp. 686-689
PHYSIOLOGY AND PATHOPHYSIOLOGY OF WATER TRANSPORT - THE ROLE OF AQUAPORINS
Authors: VANLIEBURG AF DEEN PMT VANOS CH MONNENS LAH KNOERS NVAM
Citation: Af. Vanlieburg et al., PHYSIOLOGY AND PATHOPHYSIOLOGY OF WATER TRANSPORT - THE ROLE OF AQUAPORINS, JN. Journal of nephrology, 9(2), 1996, pp. 58-65
NEW MUTANT AQP2 PROTEINS IN NEPHROGENIC DIABETES-INSIPIDUS CONFER WATER PERMEABILITY TO OOCYTES
Authors: DEEN PMT MULDERS SM VANLIEBURG AF RIJSS JPL KNOERS NVAM MONNENS LAH VANOS CH
Citation: Pmt. Deen et al., NEW MUTANT AQP2 PROTEINS IN NEPHROGENIC DIABETES-INSIPIDUS CONFER WATER PERMEABILITY TO OOCYTES, Molecular biology of the cell, 7, 1996, pp. 1487-1487
NEW MUTANT AQP2 PROTEINS IN NEPHROGENIC DIABETES-INSIPIDUS CONFER WATER PERMEABILITY TO OOCYTES
Authors: MULDERS SM VANLIEBURG AF RIJSS JPL KNOERS NVAM MONNENS LAH VANOS CH DEEN PMT
Citation: Sm. Mulders et al., NEW MUTANT AQP2 PROTEINS IN NEPHROGENIC DIABETES-INSIPIDUS CONFER WATER PERMEABILITY TO OOCYTES, Journal of the American Society of Nephrology, 7(9), 1996, pp. 111-111
MUTATIONAL ANALYSES IN GITELMAN SYNDROME
Authors: VANDENHEUVEL LPWJ LEMMINK HH TACHNER PEM VARGAS R NIAUDET P GUAYWOODFORD LM GOODYER P MONNENS L HEBERT SC KNOERS NVAM
Citation: Lpwj. Vandenheuvel et al., MUTATIONAL ANALYSES IN GITELMAN SYNDROME, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1880-1880
PHENOTYPIC VARIABILITY AND GENETIC-HETEROGENEITY IN BARTTER-SYNDROME
Authors: VARGAS R ANTIGNAC C JEAN G FORESTIER L NIAUDET P FELDMANN D DESCHENES G KAROLYI L SEYBERTH HW MADRIGAL G HILDEBRANDT F KNOERS NVAM GUAYWOODFORD LM HEBERT SC
Citation: R. Vargas et al., PHENOTYPIC VARIABILITY AND GENETIC-HETEROGENEITY IN BARTTER-SYNDROME, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1881-1881
LINKAGE OF GITELMAN-SYNDROME TO THE THIAZIDE-SODIUM-CHLORIDE COTRANSPORTER GENE WITH IDENTIFICATION OF MUTATIONS IN DUTCH FAMILIES (VOL 10,PG 403, 1996)
Authors: LEMMINK HH VANDENHEUVEL LPWJ VANDIJK HA MERKX GFM SMILDE TJ TASCHNER PEM MONNENS LAH HEBERT SC KNOERS NVAM
Citation: Hh. Lemmink et al., LINKAGE OF GITELMAN-SYNDROME TO THE THIAZIDE-SODIUM-CHLORIDE COTRANSPORTER GENE WITH IDENTIFICATION OF MUTATIONS IN DUTCH FAMILIES (VOL 10,PG 403, 1996), Pediatric nephrology, 10(5), 1996, pp. 1
LINKAGE OF GITELMAN-SYNDROME TO THE THIAZIDE-SENSITIVE SODIUM-CHLORIDE COTRANSPORTER GENE WITH IDENTIFICATION OF MUTATIONS IN DUTCH FAMILIES
Authors: LEMMINK HH VANDENHEUVEL LPWJ VANDIJK HA MERKX GFM SMILDE TJ TASCHNER PEM MONNENS LAH HEBERT SC KNOERS NVAM
Citation: Hh. Lemmink et al., LINKAGE OF GITELMAN-SYNDROME TO THE THIAZIDE-SENSITIVE SODIUM-CHLORIDE COTRANSPORTER GENE WITH IDENTIFICATION OF MUTATIONS IN DUTCH FAMILIES, Pediatric nephrology, 10(4), 1996, pp. 403-407
INVITED LECTURE-5 - PHYSIOLOGY AND PATHOPHYSIOLOGY OF AQUAPORINS
Authors: VANOS CH DEEN PMT VANLIEBURG AF KNOERS NVAM
Citation: Ch. Vanos et al., INVITED LECTURE-5 - PHYSIOLOGY AND PATHOPHYSIOLOGY OF AQUAPORINS, Kidney international, 50(5), 1996, pp. 1811-1811
PHYSIOLOGY AND PATHOPHYSIOLOGY OF AQUAPORINS
Authors: MULDERS SM VANLIEBURG AF MONNENS LAH KNOERS NVAM DEEN PMT VANOS CH
Citation: Sm. Mulders et al., PHYSIOLOGY AND PATHOPHYSIOLOGY OF AQUAPORINS, European journal of clinical investigation, 26(12), 1996, pp. 1041-1050
DISCOVERY OF AQUAPORINS - A BREAKTHROUGH IN RESEARCH ON RENAL WATER TRANSPORT
Authors: VANLIEBURG AF KNOERS NVAM DEEN PMT
Citation: Af. Vanlieburg et al., DISCOVERY OF AQUAPORINS - A BREAKTHROUGH IN RESEARCH ON RENAL WATER TRANSPORT, Pediatric nephrology, 9(2), 1995, pp. 228-234
CLINICAL PHENOTYPE OF NEPHROGENIC DIABETES-INSIPIDUS IN FEMALES HETEROZYGOUS FOR A VASOPRESSIN TYPE-2 RECEPTOR MUTATION
Authors: VANLIEBURG AF VERDIJK MAJ SCHOUTE F LIGTENBERG MJL VANOOST BA WALDHAUSER F DOBNER M MONNENS LAH KNOERS NVAM
Citation: Af. Vanlieburg et al., CLINICAL PHENOTYPE OF NEPHROGENIC DIABETES-INSIPIDUS IN FEMALES HETEROZYGOUS FOR A VASOPRESSIN TYPE-2 RECEPTOR MUTATION, Human genetics, 96(1), 1995, pp. 70-78
EFFECTS OF ARGININE-VASOPRESSIN AND 1-DESAMINO-8-D ARGININE-VASOPRESSIN ON FOREARM VASCULATURE OF HEALTHY-SUBJECTS AND PATIENTS WITH A V-2 RECEPTOR DEFECT
Authors: VANLIEBURG AF KNOERS NVAM MONNENS LAH SMITS P
Citation: Af. Vanlieburg et al., EFFECTS OF ARGININE-VASOPRESSIN AND 1-DESAMINO-8-D ARGININE-VASOPRESSIN ON FOREARM VASCULATURE OF HEALTHY-SUBJECTS AND PATIENTS WITH A V-2 RECEPTOR DEFECT, Journal of hypertension, 13(12), 1995, pp. 1695-1700
CELL BIOLOGY OF MUTATED AQUAPORIN-2 PROTEINS IN AUTOSOMAL RECESSIVE NEPHROGENIC DIABETES-INSIPIDUS
Authors: VANOS CH DEEN PMT VANLIEBURG AF KNOERS NVAM
Citation: Ch. Vanos et al., CELL BIOLOGY OF MUTATED AQUAPORIN-2 PROTEINS IN AUTOSOMAL RECESSIVE NEPHROGENIC DIABETES-INSIPIDUS, Journal of physiology, 489P, 1995, pp. 16-17
Risultati: 1-25 | 26-30