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Results: 1-25 | 26-43
Results: 1-25/43
MOLECULAR-GENETICS AND CLINICAL PHENOTYPE IN HERITABLE DISORDERS OF TUBULAR NA+ TRANSPORT
Authors: HILDEBRANDT F
Citation: F. Hildebrandt, MOLECULAR-GENETICS AND CLINICAL PHENOTYPE IN HERITABLE DISORDERS OF TUBULAR NA+ TRANSPORT, Kidney & blood pressure research, 21(2-4), 1998, pp. 217-221
LINKAGE AND ALLELIC ASSOCIATION OF ATOPY AND MARKERS FLANKING THE IL4-RECEPTOR GENE
Authors: DEICHMANN KA HEINZMANN A FORSTER J DISCHINGER S MEHL C BRUEGGENOLTE E HILDEBRANDT F MOSELER M KUEHR J
Citation: Ka. Deichmann et al., LINKAGE AND ALLELIC ASSOCIATION OF ATOPY AND MARKERS FLANKING THE IL4-RECEPTOR GENE, Clinical and experimental allergy, 28(2), 1998, pp. 151-155
EXCLUSION OF THE UTEROGLOBIN GENE AS A CANDIDATE FOR FIBRONECTIN GLOMERULOPATHY (GFND)
Authors: VOLLMER M KRAPF R HILDEBRANDT F
Citation: M. Vollmer et al., EXCLUSION OF THE UTEROGLOBIN GENE AS A CANDIDATE FOR FIBRONECTIN GLOMERULOPATHY (GFND), Nephrology, dialysis, transplantation, 13(9), 1998, pp. 2417-2418
AUTOSOMAL-DOMINANT MEDULLARY CYSTIC KIDNEY-DISEASE - EVIDENCE OF GENELOCUS HETEROGENEITY
Authors: FUCHSHUBER A DELTAS CC BERTHOLD S STAVROU C VOLLMER M BURTON C FEEST T KRIETER D GAL A BRANDIS M PIERIDES A HILDEBRANDT F
Citation: A. Fuchshuber et al., AUTOSOMAL-DOMINANT MEDULLARY CYSTIC KIDNEY-DISEASE - EVIDENCE OF GENELOCUS HETEROGENEITY, Nephrology, dialysis, transplantation, 13(8), 1998, pp. 1955-1957
IDENTIFICATION OF A GENE FOR NEPHRONOPHTHISIS
Authors: HILDEBRANDT F
Citation: F. Hildebrandt, IDENTIFICATION OF A GENE FOR NEPHRONOPHTHISIS, Nephrology, dialysis, transplantation, 13(6), 1998, pp. 1334-1336
LACK OF LARGE, HOMOZYGOUS DELETIONS OF THE NEPHRONOPHTHISIS-1 REGION IN JOUBERT-SYNDROME TYPE-B
Authors: HILDEBRANDT F NOTHWANG HG VOSSMERBAUMER U SPRINGER C STRAHM B HOPPE B KEUTH B FUCHSHUBER A QUERFELD U NEUHAUS TJ BRANDIS M
Citation: F. Hildebrandt et al., LACK OF LARGE, HOMOZYGOUS DELETIONS OF THE NEPHRONOPHTHISIS-1 REGION IN JOUBERT-SYNDROME TYPE-B, Pediatric nephrology, 12(1), 1998, pp. 16-19
2 NOVEL MUTATIONS OF THE GENE FOR K-IR-1.1 (ROMK) IN NEONATAL BARTTER-SYNDROME
Authors: VOLLMER M KOEHRER M TOPALOGLU R STRAHM B OMRAN H HILDEBRANDT F
Citation: M. Vollmer et al., 2 NOVEL MUTATIONS OF THE GENE FOR K-IR-1.1 (ROMK) IN NEONATAL BARTTER-SYNDROME, Pediatric nephrology, 12(1), 1998, pp. 69-71
IDENTIFICATION OF A NOVEL RAN BINDING-PROTEIN-2 RELATED GENE (RANBP2L1) AND DETECTION OF A GENE-CLUSTER ON HUMAN-CHROMOSOME 2Q11-Q12
Authors: NOTHWANG HG RENSING C KUBLER M DENICH D BRANDL B STUBANUS M HAAF T KURNIT D HILDEBRANDT F
Citation: Hg. Nothwang et al., IDENTIFICATION OF A NOVEL RAN BINDING-PROTEIN-2 RELATED GENE (RANBP2L1) AND DETECTION OF A GENE-CLUSTER ON HUMAN-CHROMOSOME 2Q11-Q12, Genomics, 47(3), 1998, pp. 383-392
CONSTRUCTION OF A GENE MAP OF THE NEPHRONOPHTHISIS TYPE-1 (NPHP1) REGION ON HUMAN-CHROMOSOME 2Q12-Q13
Authors: NOTHWANG HG STUBANUS M ADOLPHS J HANUSCH H VOSSMERBAUMER U DENICH D KUBLER M MINCHEVA A LICHTER P HILDEBRANDT F
Citation: Hg. Nothwang et al., CONSTRUCTION OF A GENE MAP OF THE NEPHRONOPHTHISIS TYPE-1 (NPHP1) REGION ON HUMAN-CHROMOSOME 2Q12-Q13, Genomics, 47(2), 1998, pp. 276-285
ACUTE BILATERAL RENAL-VEIN THROMBOSIS COMPLICATING NETHERTON-SYNDROME
Authors: POHL M ZIMMERHACKL LB HAUSSER I LUDWIG H HILDEBRANDT F GORDJANI N SUTOR AH ANTONLAMPRECHT I BRANDIS M
Citation: M. Pohl et al., ACUTE BILATERAL RENAL-VEIN THROMBOSIS COMPLICATING NETHERTON-SYNDROME, European journal of pediatrics, 157(2), 1998, pp. 157-160
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
A NOVEL GENE ENCODING AN SH3 DOMAIN PROTEIN IS MUTATED IN NEPHRONOPHTHISIS TYPE-1
Authors: HILDEBRANDT F OTTO E RENSING C NOTHWANG HG VOLLMER M ADOLPHS J HANUSCH H BRANDIS M
Citation: F. Hildebrandt et al., A NOVEL GENE ENCODING AN SH3 DOMAIN PROTEIN IS MUTATED IN NEPHRONOPHTHISIS TYPE-1, Nature genetics, 17(2), 1997, pp. 149-153
IDENTIFICATION OF THE GENE (DNPH1), WHICH IS HOMOZYGOUSLY DELETED IN NEPHRONOPHTHISIS-1 (NPH1)
Authors: HILDEBRANDT F OTTO E RENSING C NOTHWANG HG BRANDIS M
Citation: F. Hildebrandt et al., IDENTIFICATION OF THE GENE (DNPH1), WHICH IS HOMOZYGOUSLY DELETED IN NEPHRONOPHTHISIS-1 (NPH1), Journal of the American Society of Nephrology, 8, 1997, pp. 1801-1801
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
FORMATION OF COLUMNAR MESOPHASES BY ROD-LIKE MOLECULES - FACIAL AMPHIPHILIC P-TERPHENYL DERIVATIVES
Authors: HILDEBRANDT F SCHROTER JA TSCHIERSKE C FESTAG R WITTENBERG M WENDORFF JH
Citation: F. Hildebrandt et al., FORMATION OF COLUMNAR MESOPHASES BY ROD-LIKE MOLECULES - FACIAL AMPHIPHILIC P-TERPHENYL DERIVATIVES, Advanced materials, 9(7), 1997, pp. 564
LATE OCCURRENCE OF CYSTS IN AUTOSOMAL-DOMINANT MEDULLARY CYSTIC KIDNEY-DISEASE
Authors: NEUMANN HPH ZAUNER I STRAHM B BENDER BU SCHOLLMEYER P BLUM U ROHRBACH R HILDEBRANDT F
Citation: Hph. Neumann et al., LATE OCCURRENCE OF CYSTS IN AUTOSOMAL-DOMINANT MEDULLARY CYSTIC KIDNEY-DISEASE, Nephrology, dialysis, transplantation, 12(6), 1997, pp. 1242-1246
MOLECULAR-CLONING OF THE INTERLEUKIN-1 GENE-CLUSTER - CONSTRUCTION OFAN INTEGRATED YAC PAC CONTIG AND A PARTIAL TRANSCRIPTIONAL MAP IN THEREGION OF CHROMOSOME 2Q13/
Authors: NOTHWANG HG STRAHM B DENICH D KUBLER M SCHWABE J GINGRICH JC JAUCH A COX A NICKLIN MJH KURNIT DM HILDEBRANDT F
Citation: Hg. Nothwang et al., MOLECULAR-CLONING OF THE INTERLEUKIN-1 GENE-CLUSTER - CONSTRUCTION OFAN INTEGRATED YAC PAC CONTIG AND A PARTIAL TRANSCRIPTIONAL MAP IN THEREGION OF CHROMOSOME 2Q13/, Genomics, 41(3), 1997, pp. 370-378
PROBABLE OPITZ TRIGONOCEPHALY-C SYNDROME WITH MEDULLOBLASTOMA
Authors: OMRAN H HILDEBRANDT F KORINTHENBERG R BRANDIS M
Citation: H. Omran et al., PROBABLE OPITZ TRIGONOCEPHALY-C SYNDROME WITH MEDULLOBLASTOMA, American journal of medical genetics, 69(4), 1997, pp. 395-399
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
MOLECULAR-GENETIC IDENTIFICATION OF FAMILIES WITH JUVENILE NEPHRONOPHTHISIS TYPE-1 - RATE OF PROGRESSION TO RENAL-FAILURE
Authors: HILDEBRANDT F STRAHM B NOTHWANG HG GRETZ N SCHNIEDERS B SINGHSAWHNEY I KUTT R VOLLMER M BRANDIS M BODE U BRODEHL J LATTA K BROUHARD B DIPPEL J FELDHOFF C WINGEN M FILLER G GHIGGERI GM GUAYWOODFORD L HOPPE B KLARE B KUIJTEN RH KUHN K LEUMANN E NEUMANN HPH VOSSMERBAUMER U NEUMAYER HH RASCHER W SCHARER K STOLPE HJ
Citation: F. Hildebrandt et al., MOLECULAR-GENETIC IDENTIFICATION OF FAMILIES WITH JUVENILE NEPHRONOPHTHISIS TYPE-1 - RATE OF PROGRESSION TO RENAL-FAILURE, Kidney international, 51(1), 1997, pp. 261-269
HEMODIALYSIS OR HEMOFILTRATION AS TREATME NT OF ACUTE HYPERAMMONEMIC COMA CAUSED BY INBORN-ERRORS OF METABOLISM IN NEONATES AND INFANTS
Authors: ERMISCH B HILDEBRANDT F ZIMMERHACKL LB POHL M GORDJANI N NIEDERHOFF H MATERN D SEYDEWITZ HH LEHNERT W LEITITIS JU BRANDIS M
Citation: B. Ermisch et al., HEMODIALYSIS OR HEMOFILTRATION AS TREATME NT OF ACUTE HYPERAMMONEMIC COMA CAUSED BY INBORN-ERRORS OF METABOLISM IN NEONATES AND INFANTS, Monatsschrift fur Kinderheilkunde, 145(7), 1997, pp. 714-718
POSITIONAL CLONING OF A CANDIDATE GENE FOR JUVENILE NEPHRONOPHTHISIS
Authors: HILDEBRANDT F RENSING C OTTO E NOTHWANG HG ADOLPHS J HANUSCH H BRANDIS M
Citation: F. Hildebrandt et al., POSITIONAL CLONING OF A CANDIDATE GENE FOR JUVENILE NEPHRONOPHTHISIS, American journal of human genetics, 61(4), 1997, pp. 1626-1626
CLONING THE NEPHRONOPHTHISIS (NPH) GENETIC REGION - GENERATION OF AN INTEGRATED YAC, PAC AND TRANSCRIPTIONAL MAP ON CHROMOSOME 2Q13
Authors: HILDEBRANDT F NOTHWANG HG STRAHM B KUBER M DENICH D SCHWABE J GINGRICH JC BRANDIS M
Citation: F. Hildebrandt et al., CLONING THE NEPHRONOPHTHISIS (NPH) GENETIC REGION - GENERATION OF AN INTEGRATED YAC, PAC AND TRANSCRIPTIONAL MAP ON CHROMOSOME 2Q13, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1742-1742
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
Risultati: 1-25 | 26-43