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Results: 1-25 | 26-42
Results: 1-25/42
GENOMIC ORGANIZATION AND REFINED MAPPING OF THE MOUSE BETA-DYSTROBREVIN GENE
Authors: LOH NY AMBROSE HJ GUAYWOODFORD LM DASGUPTA S NAWROTZKI RA BLAKE DJ DAVIES KE
Citation: Ny. Loh et al., GENOMIC ORGANIZATION AND REFINED MAPPING OF THE MOUSE BETA-DYSTROBREVIN GENE, Mammalian genome, 9(11), 1998, pp. 857-862
DIFFUSE RENAL CYSTIC-DISEASE IN CHILDREN - MORPHOLOGIC AND GENETIC CORRELATIONS
Authors: GUAYWOODFORD LM GALLIANI CA MUSULMANMROCZEK E SPEAR GS GUILLOT AP BERNSTEIN J
Citation: Lm. Guaywoodford et al., DIFFUSE RENAL CYSTIC-DISEASE IN CHILDREN - MORPHOLOGIC AND GENETIC CORRELATIONS, Pediatric nephrology, 12(3), 1998, pp. 173-182
PRENATAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) - MOLECULAR-GENETICS, CLINICAL-EXPERIENCE, AND FETAL MORPHOLOGY
Authors: ZERRES K MUCHER G BECKER J STEINKAMM C RUDNIKSCHONEBORN S HEIKKILA P RAPOLA J SALONEN R GERMINO GG ONUCHIC L SOMLO S AVNER ED HARMAN LA STOCKWIN JM GUAYWOODFORD LM
Citation: K. Zerres et al., PRENATAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) - MOLECULAR-GENETICS, CLINICAL-EXPERIENCE, AND FETAL MORPHOLOGY, American journal of medical genetics, 76(2), 1998, pp. 137-144
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
AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS IS ASSOCIATED IN 3 FAMILIES WITH HETEROZYGOSITY FOR THE R589H MUTATION IN THE AE1 (BAND-3)CL- HCO3- EXCHANGER/
Authors: JAROLIM P SHAYAKUL C PRABAKARAN D JIANG LW STUARTTILLEY A RUBIN HL SIMOVA S ZAVADIL J HERRIN JT BROUILLETTE J SOMERS MJG SEEMANOVA E BRUGNARA C GUAYWOODFORD LM ALPER SL
Citation: P. Jarolim et al., AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS IS ASSOCIATED IN 3 FAMILIES WITH HETEROZYGOSITY FOR THE R589H MUTATION IN THE AE1 (BAND-3)CL- HCO3- EXCHANGER/, The Journal of biological chemistry, 273(11), 1998, pp. 6380-6388
BARTTER-SYNDROME - UNRAVELING THE PATHOPHYSIOLOGIC ENIGMA
Authors: GUAYWOODFORD LM
Citation: Lm. Guaywoodford, BARTTER-SYNDROME - UNRAVELING THE PATHOPHYSIOLOGIC ENIGMA, The American journal of medicine, 105(2), 1998, pp. 151-161
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
AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN AFRICAN-AMERICANS - PREVALENCE AND CLINICAL COURSE
Authors: HEIFNER JK GUAYWOODFORD LM
Citation: Jk. Heifner et Lm. Guaywoodford, AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN AFRICAN-AMERICANS - PREVALENCE AND CLINICAL COURSE, Journal of the American Society of Nephrology, 8, 1997, pp. 1723-1723
THE CLINICAL COURSE IN AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) - AN UPDATE OF THE NORTH-AMERICAN (NO. AM.) EXPERIENCE
Authors: SHAW PK RASOULPOUR M KAPLAN BS GUAYWOODFORD LM
Citation: Pk. Shaw et al., THE CLINICAL COURSE IN AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) - AN UPDATE OF THE NORTH-AMERICAN (NO. AM.) EXPERIENCE, Journal of the American Society of Nephrology, 8, 1997, pp. 1758-1758
CHARACTERIZING RENAL CYSTOGENESIS IN A CPK FETAL MOUSE MODEL
Authors: WRIGHT CJ ROBERT B STJOHN PL ABRAHAMSON DR GUAYWOODFORD LM
Citation: Cj. Wright et al., CHARACTERIZING RENAL CYSTOGENESIS IN A CPK FETAL MOUSE MODEL, Journal of the American Society of Nephrology, 8, 1997, pp. 1780-1780
GENETIC-ANALYSIS OF LOCI THAT MODIFY RENAL CYSTIC-DISEASE IN THE MOUSE BPK MODEL
Authors: WRIGHT CJ GUAYWOODFORD LM
Citation: Cj. Wright et Lm. Guaywoodford, GENETIC-ANALYSIS OF LOCI THAT MODIFY RENAL CYSTIC-DISEASE IN THE MOUSE BPK MODEL, Journal of the American Society of Nephrology, 8, 1997, pp. 1781-1781
A HETEROZYGOUS MISSENSE MUTATION IN THE AE1 CL- HCO3- EXCHANGER GENE COSEGREGATES WITH AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS (DRTA) IN 2 UNRELATED FAMILIES/
Authors: ALPER SL GUAYWOODFORD LM PRABAKARAN D BROUILLETTE J SOMERS MJG HERRIN JT SEEMANOVA E BRUGNARA C JAROLIM P
Citation: Sl. Alper et al., A HETEROZYGOUS MISSENSE MUTATION IN THE AE1 CL- HCO3- EXCHANGER GENE COSEGREGATES WITH AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS (DRTA) IN 2 UNRELATED FAMILIES/, Journal of the American Society of Nephrology, 8, 1997, pp. 1785-1785
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
DOMINANTLY TRANSMITTED GLOMERULOCYSTIC KIDNEY-DISEASE - A DISTINCT GENETIC ENTITY
Authors: SHARP CK BERGMAN SM STOCKWIN JM ROBBIN ML GALLIANI C GUAYWOODFORD LM
Citation: Ck. Sharp et al., DOMINANTLY TRANSMITTED GLOMERULOCYSTIC KIDNEY-DISEASE - A DISTINCT GENETIC ENTITY, Journal of the American Society of Nephrology, 8(1), 1997, pp. 77-84
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
BARTTER-SYNDROME IN COSTA-RICA - A DESCRIPTION OF 20 CASES
Authors: MADRIGAL G SABORIO P MORA F RINCON G GUAYWOODFORD LM
Citation: G. Madrigal et al., BARTTER-SYNDROME IN COSTA-RICA - A DESCRIPTION OF 20 CASES, Pediatric nephrology, 11(3), 1997, pp. 296-301
LOW PERIPHERAL PLASMA-RENIN ACTIVITY AS A CRITICAL MARKER IN PEDIATRIC HYPERTENSION
Authors: YIU VWY DLUHY RP LIFTON RP GUAYWOODFORD LM
Citation: Vwy. Yiu et al., LOW PERIPHERAL PLASMA-RENIN ACTIVITY AS A CRITICAL MARKER IN PEDIATRIC HYPERTENSION, Pediatric nephrology, 11(3), 1997, pp. 343-346
SUBSTITUTION 589-ARG-]HIS IN ERYTHROID BAND-3 (AE1) CAUSES OR CONTRIBUTES TO AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS (DRTA)
Authors: JAROLIM P SHAYAKUL C PRABAKARAN D JIANG L STUARTTILLEY A HERRIN JT SOMERS MJG SEEMANOVA E SIMOVA S BROUILLETTE J GUAYWOODFORD LM BRUGNARA C ALPER SL
Citation: P. Jarolim et al., SUBSTITUTION 589-ARG-]HIS IN ERYTHROID BAND-3 (AE1) CAUSES OR CONTRIBUTES TO AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS (DRTA), Blood, 90(10), 1997, pp. 1185-1185
A NEWFOUNDLAND FAMILY NARROWS THE AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) CRITICAL REGION ON 6P
Authors: DAVIDSON WS JONES GJ PARFREY PS HEFFERTON D GREEN JS GUAYWOODFORD LM YOUNG TL
Citation: Ws. Davidson et al., A NEWFOUNDLAND FAMILY NARROWS THE AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) CRITICAL REGION ON 6P, American journal of human genetics, 61(4), 1997, pp. 1585-1585
PHYSICAL MAPPING OF THE INTERVAL CONTAINING THE MOUSE CPK MUTATION
Authors: DASGRUPTA S STOCKWIN JM GUAYWOODFORD LM
Citation: S. Dasgrupta et al., PHYSICAL MAPPING OF THE INTERVAL CONTAINING THE MOUSE CPK MUTATION, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1725-1725
SEVERITY OF THE RENAL CYSTIC-DISEASE IN THE MOUSE BPK MODEL IS INFLUENCED BY MODIFYING GENES
Authors: GUAYWOODFORD LM COLLIER WR
Citation: Lm. Guaywoodford et Wr. Collier, SEVERITY OF THE RENAL CYSTIC-DISEASE IN THE MOUSE BPK MODEL IS INFLUENCED BY MODIFYING GENES, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1824-1824
HAPLOTYPE-BASED PRENATAL-DIAGNOSIS IN AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD)
Authors: GUAYWOODFORD LM STOCKWIN J MUECHER G STEINKAMM C RUDNICKSCHOENEBORN S ZERRES K
Citation: Lm. Guaywoodford et al., HAPLOTYPE-BASED PRENATAL-DIAGNOSIS IN AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD), Journal of the American Society of Nephrology, 7(9), 1996, pp. 1825-1825
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
Risultati: 1-25 | 26-42