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Results: 1-25 |
Results: 25
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
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
THE CLINICAL SPECTRUM OF TYPE-IV COLLAGEN MUTATIONS
Authors: LEMMINK HH SCHRODER CH MONNENS LAH SMEETS HJM
Citation: Hh. Lemmink et al., THE CLINICAL SPECTRUM OF TYPE-IV COLLAGEN MUTATIONS, Human mutation, 9(6), 1997, pp. 477-499
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
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-DOMINANT ALPORT-SYNDROME LINKED TO THE TYPE-IV COLLAGE ALPHA-3 AND ALPHA-4 GENES (COL4A3 AND COL4A4)
Authors: JEFFERSON JA LEMMINK HH HUGHES AE HILL CM SMEETS HJM DOHERTY CC MAXWELL AP
Citation: Ja. Jefferson et al., AUTOSOMAL-DOMINANT ALPORT-SYNDROME LINKED TO THE TYPE-IV COLLAGE ALPHA-3 AND ALPHA-4 GENES (COL4A3 AND COL4A4), Nephrology, dialysis, transplantation, 12(8), 1997, pp. 1595-1599
MOLECULAR-CLONING OF THE HUMAN THIAZIDE-SENSITIVE SODIUM-CHLORIDE COTRANSPORTER (NCCT) AND IDENTIFICATION OF MUTATIONS IN PATIENTS WITH AUTOSOMAL-RECESSIVE GITELMAN-SYNDROME
Authors: LEMMINK HH VANDENHEUVEL LPWJ VANDIJK HA MERKX SFM SMILDE T TASCHNER PEM HEBERT SC MONNENS LAH KNOERS NAVM
Citation: Hh. Lemmink et al., MOLECULAR-CLONING OF THE HUMAN THIAZIDE-SENSITIVE SODIUM-CHLORIDE COTRANSPORTER (NCCT) AND IDENTIFICATION OF MUTATIONS IN PATIENTS WITH AUTOSOMAL-RECESSIVE GITELMAN-SYNDROME, Kidney international, 52(2), 1997, pp. 560-560
MUTATIONS IN THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL (ROMK) CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME
Authors: LEMMINK HH KNOERS NAVM BINDELS RJ NILLESEN WN KANSEN M VANDERKEMP A MONNENS LAH VANDENHEUVEL LPWJ AMIGNAC C FELDMANN D HILDEBRANDT F SEYBERTH HW GUAYWOODFORD L
Citation: Hh. Lemmink et al., MUTATIONS IN THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL (ROMK) CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME, Kidney international, 52(2), 1997, pp. 570-571
IMMUNOHISTOCHEMICAL ANALYSIS OF BASEMENT-MEMBRANES IN PATIENTS WITH ALPORT-SYNDROME AND BENIGN FAMILIAL HEMATURIA
Authors: SMEETS HJM VANDERLOOP FTL TIMMER EDJ BREUNING MH LEMMINK HH MONNENS LAH SCHRODER CH
Citation: Hjm. Smeets et al., IMMUNOHISTOCHEMICAL ANALYSIS OF BASEMENT-MEMBRANES IN PATIENTS WITH ALPORT-SYNDROME AND BENIGN FAMILIAL HEMATURIA, American journal of human genetics, 61(4), 1997, pp. 2031-2031
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
THE COL4A4 GENE IS MUTATED BENIGN HEMATURIA
Authors: VANDERLOOP FTL LEMMINK HH NILLESEN WN BRUNNER HG MONNENS LAH SCHRODER CH SMEETS HJM
Citation: Ftl. Vanderloop et al., THE COL4A4 GENE IS MUTATED BENIGN HEMATURIA, Matrix biology, 15(3), 1996, pp. 178-179
HEREDITARY DISORDERS OF THE GLOMERULAR-BASEMENT-MEMBRANE
Authors: SMEETS HJM KNOERS VVAM VANDEHEUVEL LPWJ LEMMINK HH SCHRODER CH MONNENS LAH
Citation: Hjm. Smeets et al., HEREDITARY DISORDERS OF THE GLOMERULAR-BASEMENT-MEMBRANE, Pediatric nephrology, 10(6), 1996, pp. 779-788
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
BENIGN FAMILIAL HEMATURIA DUE TO MUTATION OF THE TYPE-IV COLLAGEN ALPHA-4 GENE
Authors: LEMMINK HH NILLESEN WN MOCHIZUKI T SCHRODER CH BRUNNER HG VANOOST BA MONNENS LAH SMEETS HJM
Citation: Hh. Lemmink et al., BENIGN FAMILIAL HEMATURIA DUE TO MUTATION OF THE TYPE-IV COLLAGEN ALPHA-4 GENE, The Journal of clinical investigation, 98(5), 1996, pp. 1114-1118
FAMILIAL BENIGN HEMATURIA IS LINKED TO THE TYPE ALPHA-3 AND ALPHA-4 COLLAGEN GENES
Authors: SCHRODER CH LEMMINK HH SMEETS HJM NILLESEN WN JEFFERSON JA BRUNNER HG MONNENS LAH
Citation: Ch. Schroder et al., FAMILIAL BENIGN HEMATURIA IS LINKED TO THE TYPE ALPHA-3 AND ALPHA-4 COLLAGEN GENES, Journal of the American Society of Nephrology, 6(3), 1995, pp. 727-727
A COL4A3 GENE MUTATION AND POSTTRANSPLANT ANTI-ALPHA-3(IV) COLLAGEN ALLOANTIBODIES IN ALPORT SYNDROME
Authors: KALLURI R VANDENHEUVEL LP SMEETS HJM SCHRODER CH LEMMINK HH BOUTAUD A NEILSON EG HUDSON BG
Citation: R. Kalluri et al., A COL4A3 GENE MUTATION AND POSTTRANSPLANT ANTI-ALPHA-3(IV) COLLAGEN ALLOANTIBODIES IN ALPORT SYNDROME, Kidney international, 47(4), 1995, pp. 1199-1204
FAMILIAL BENIGN HEMATURIA IS LINKED TO THE TYPE-IV ALPHA-3 AND ALPHA-4 COLLAGEN (COL4A3 AND COL4A4) GENES AT 2Q35-37 AND IS ALLELIC TO AUTOSOMAL RECESSIVE AND DOMINANT ALPORT SYNDROME
Authors: SMEETS HJM LEMMINK HH NILLESEN WN JEFFERSON JA BRUNNER HG MONNENS LAH SCHRODER CH
Citation: Hjm. Smeets et al., FAMILIAL BENIGN HEMATURIA IS LINKED TO THE TYPE-IV ALPHA-3 AND ALPHA-4 COLLAGEN (COL4A3 AND COL4A4) GENES AT 2Q35-37 AND IS ALLELIC TO AUTOSOMAL RECESSIVE AND DOMINANT ALPORT SYNDROME, American journal of human genetics, 57(4), 1995, pp. 36-36
IDENTIFICATION OF MUTATIONS IN THE ALPHA-3(IV) AND ALPHA-4(IV) COLLAGEN GENES IN AUTOSOMAL RECESSIVE ALPORT SYNDROME
Authors: MOCHIZUKI T LEMMINK HH MARIYAMA M ANTIGNAC C GUBLER MC PIRSON Y VERELLENDUMOULIN C CHAN B SCHRODER CH SMEETS HJ REEDERS ST
Citation: T. Mochizuki et al., IDENTIFICATION OF MUTATIONS IN THE ALPHA-3(IV) AND ALPHA-4(IV) COLLAGEN GENES IN AUTOSOMAL RECESSIVE ALPORT SYNDROME, Nature genetics, 8(1), 1994, pp. 77-82
MOLECULAR AND IMMUNOLOGICAL STUDIES IN X-LINKED AND AUTOSOMAL RECESSIVE ALPORT SYNDROME
Authors: LEMMINK HH VANDENHEUVEL L SCHRODER CAH NILLESEN W VANOOST BA BRUNNER HG MONNENS LAH SMEETS HJM
Citation: Hh. Lemmink et al., MOLECULAR AND IMMUNOLOGICAL STUDIES IN X-LINKED AND AUTOSOMAL RECESSIVE ALPORT SYNDROME, Journal of the American Society of Nephrology, 5(3), 1994, pp. 629-629
MUTATIONS IN THE TYPE-IV COLLAGEN ALPHA-3 (COL4A3) GENE IN AUTOSOMAL RECESSIVE ALPORT SYNDROME
Authors: LEMMINK HH MOCHIZUKI T VANDENHEUVEL LPWJ SCHRODER CH BARRIENTOS A MONNENS LAH VANOOST BA BRUNNER HG REEDERS ST SMEETS HJM
Citation: Hh. Lemmink et al., MUTATIONS IN THE TYPE-IV COLLAGEN ALPHA-3 (COL4A3) GENE IN AUTOSOMAL RECESSIVE ALPORT SYNDROME, Human molecular genetics, 3(8), 1994, pp. 1269-1273
ABERRANT SPLICING OF THE COL4A5 GENE IN PATIENTS WITH ALPORT SYNDROME
Authors: LEMMINK HH KLUIJTMANS LAJ BRUNNER HG SCHRODER CH KNEBELMANN B JELINKOVA E VANOOST BA MONNENS LAH SMEETS HJM
Citation: Hh. Lemmink et al., ABERRANT SPLICING OF THE COL4A5 GENE IN PATIENTS WITH ALPORT SYNDROME, Human molecular genetics, 3(2), 1994, pp. 317-322
IDENTIFICATION OF 4 NOVEL MUTATIONS IN THE COL4A5 GENE OF PATIENTS WITH ALPORT SYNDROME
Authors: LEMMINK HH SCHRODER CH BRUNNER HG NELEN MR ZHOU J TRYGGVASON K HAAGSMASCHOUTEN WAG ROODVOETS AP RASCHER W VANOOST BA SMEETS HJM
Citation: Hh. Lemmink et al., IDENTIFICATION OF 4 NOVEL MUTATIONS IN THE COL4A5 GENE OF PATIENTS WITH ALPORT SYNDROME, Genomics, 17(2), 1993, pp. 485-489
MOLECULAR AND IMMUNOLOGICAL STUDIES IN X-LINKED AND AUTOSOMAL RECESSIVE ALPORT SYNDROME
Authors: SMEETS HJ LEMMINK HH VANDENHEUVEL LP KLUIJTMANS L SCHRODER CH MOCHIZUKI T ZHOU J REEDERS S TRYGGVASON K MONNENS L BRUNNER HG
Citation: Hj. Smeets et al., MOLECULAR AND IMMUNOLOGICAL STUDIES IN X-LINKED AND AUTOSOMAL RECESSIVE ALPORT SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1230-1230
Risultati: 1-25 |