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    1. LOH NY; AMBROSE HJ; GUAYWOODFORD LM; DASGUPTA S; NAWROTZKI RA; BLAKE DJ; DAVIES KE
      GENOMIC ORGANIZATION AND REFINED MAPPING OF THE MOUSE BETA-DYSTROBREVIN GENE

      Mammalian genome
    2. GUAYWOODFORD LM; GALLIANI CA; MUSULMANMROCZEK E; SPEAR GS; GUILLOT AP; BERNSTEIN J
      DIFFUSE RENAL CYSTIC-DISEASE IN CHILDREN - MORPHOLOGIC AND GENETIC CORRELATIONS

      Pediatric nephrology
    3. 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
      PRENATAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) - MOLECULAR-GENETICS, CLINICAL-EXPERIENCE, AND FETAL MORPHOLOGY

      American journal of medical genetics
    4. 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
      NOVEL MUTATIONS IN THE THIAZIDE-SENSITIVE NACL COTRANSPORTER GENE IN PATIENTS WITH GITELMAN-SYNDROME WITH PREDOMINANT LOCALIZATION TO THE C-TERMINAL DOMAIN

      Kidney international
    5. 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
      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
    6. GUAYWOODFORD LM
      BARTTER-SYNDROME - UNRAVELING THE PATHOPHYSIOLOGIC ENIGMA

      The American journal of medicine
    7. 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
      NOVEL MOLECULAR VARIANTS OF THE NA-K-2CL COTRANSPORTER GENE ARE RESPONSIBLE FOR ANTENATAL BARTTER-SYNDROME

      American journal of human genetics
    8. KURTZ CL; KAROLYI L; SEYBERTH HW; KOCH MC; VARGAS R; FELDMANN D; VOLLMER M; KNOERS NVAM; MADRIGAL G; GUAYWOODFORD LM
      A COMMON NKCC2 MUTATION IN COSTA-RICAN BARTTERS-SYNDROME PATIENTS - EVIDENCE FOR A FOUNDER EFFECT

      Journal of the American Society of Nephrology
    9. SHARP CK; BERGMAN SM; STOCKWIN JM; ROBBIN ML; GALLIANI C; GUAYWOODFORD LM
      DOMINANTLY TRANSMITTED GLOMERULOCYSTIC KIDNEY-DISEASE - A DISTINCT GENETIC ENTITY

      Journal of the American Society of Nephrology
    10. HEIFNER JK; GUAYWOODFORD LM
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN AFRICAN-AMERICANS - PREVALENCE AND CLINICAL COURSE

      Journal of the American Society of Nephrology
    11. SHAW PK; RASOULPOUR M; KAPLAN BS; GUAYWOODFORD LM
      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
    12. WRIGHT CJ; ROBERT B; STJOHN PL; ABRAHAMSON DR; GUAYWOODFORD LM
      CHARACTERIZING RENAL CYSTOGENESIS IN A CPK FETAL MOUSE MODEL

      Journal of the American Society of Nephrology
    13. WRIGHT CJ; GUAYWOODFORD LM
      GENETIC-ANALYSIS OF LOCI THAT MODIFY RENAL CYSTIC-DISEASE IN THE MOUSE BPK MODEL

      Journal of the American Society of Nephrology
    14. ALPER SL; GUAYWOODFORD LM; PRABAKARAN D; BROUILLETTE J; SOMERS MJG; HERRIN JT; SEEMANOVA E; BRUGNARA C; JAROLIM P
      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
    15. 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
      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
    16. 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
      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
    17. MADRIGAL G; SABORIO P; MORA F; RINCON G; GUAYWOODFORD LM
      BARTTER-SYNDROME IN COSTA-RICA - A DESCRIPTION OF 20 CASES

      Pediatric nephrology
    18. YIU VWY; DLUHY RP; LIFTON RP; GUAYWOODFORD LM
      LOW PERIPHERAL PLASMA-RENIN ACTIVITY AS A CRITICAL MARKER IN PEDIATRIC HYPERTENSION

      Pediatric nephrology
    19. 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
      SUBSTITUTION 589-ARG-]HIS IN ERYTHROID BAND-3 (AE1) CAUSES OR CONTRIBUTES TO AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS (DRTA)

      Blood
    20. DAVIDSON WS; JONES GJ; PARFREY PS; HEFFERTON D; GREEN JS; GUAYWOODFORD LM; YOUNG TL
      A NEWFOUNDLAND FAMILY NARROWS THE AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) CRITICAL REGION ON 6P

      American journal of human genetics
    21. DASGRUPTA S; STOCKWIN JM; GUAYWOODFORD LM
      PHYSICAL MAPPING OF THE INTERVAL CONTAINING THE MOUSE CPK MUTATION

      Journal of the American Society of Nephrology
    22. GUAYWOODFORD LM; COLLIER WR
      SEVERITY OF THE RENAL CYSTIC-DISEASE IN THE MOUSE BPK MODEL IS INFLUENCED BY MODIFYING GENES

      Journal of the American Society of Nephrology
    23. GUAYWOODFORD LM; STOCKWIN J; MUECHER G; STEINKAMM C; RUDNICKSCHOENEBORN S; ZERRES K
      HAPLOTYPE-BASED PRENATAL-DIAGNOSIS IN AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD)

      Journal of the American Society of Nephrology
    24. VANDENHEUVEL LPWJ; LEMMINK HH; TACHNER PEM; VARGAS R; NIAUDET P; GUAYWOODFORD LM; GOODYER P; MONNENS L; HEBERT SC; KNOERS NVAM
      MUTATIONAL ANALYSES IN GITELMAN SYNDROME

      Journal of the American Society of Nephrology
    25. 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
      PHENOTYPIC VARIABILITY AND GENETIC-HETEROGENEITY IN BARTTER-SYNDROME

      Journal of the American Society of Nephrology
    26. GUAYWOODFORD LM; BRYDA EC; CHRISTINE B; LINDSEY JR; COLLIER WR; AVNER ED; DEUSTACHIO P; FLAHERTY L
      EVIDENCE THAT 2 PHENOTYPICALLY DISTINCT MOUSE PKD MUTATIONS, BPK AND JCPK, ARE ALLELIC

      Kidney international
    27. GUAYWOODFORD LM; BRYDA EC; LINDSAY JR; AVNER ED; FLAHERTY L
      THE MOUSE BPK MUTATION, A MODEL OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) AND JCPK, A PHENOTYPICALLY DISTINCT PKD MUTATION, ARE ALLELIC

      Pediatric research
    28. GUAYWOODFORD LM; ROBERT B; STJOHN PL; ABRAHAMSON DR
      A NEW MOUSE MODEL FOR POLYCYSTIC KIDNEY-DISEASE (PKD)

      Molecular biology of the cell
    29. GUAYWOODFORD LM; CHRISTINE BS; AVNER ED
      THE MOUSE BPK MUTATION, A NEW MODEL OF AUTOSOMAL RECESSIVE POLYCYSTICKIDNEY-DISEASE (ARPKD) IS GENETICALLY DISTINCT

      Journal of the American Society of Nephrology
    30. GUAYWOODFORD LM; DEUSTACHIO P
      HIGH-RESOLUTION GENETIC-MAPPING OF THE MOUSE CPK MUTATION

      Journal of the American Society of Nephrology
    31. SHARP CK; BERGMAN SM; ROBBIN M; GUAYWOODFORD LM
      DOMINANTLY-TRANSMITTED GLOMERULOCYSTIC DISEASE (GCD) - A DISTINCT GENETIC ENTITY

      Journal of the American Society of Nephrology
    32. ONUCHIC LF; SCHRICK JJ; MA J; HUDSON T; GUAYWOODFORD LM; ZERRES K; WOYCHIK RP; REEDERS ST
      SEQUENCE-ANALYSIS OF THE HUMAN HTG737 GENE AND ITS POLYMORPHIC SITES IN PATIENTS WITH AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE

      Mammalian genome
    33. SHARPE C; BERGMAN SM; GUAYWOODFORD LM
      FAMILIAL GLOMERULOCYSTIC DISEASE (GCD) TRANSMITTED AS A DOMINANT TRAIT WITH EVIDENCE FOR ANTICIPATION - A NEW ENTITY

      Pediatric research
    34. GUAYWOODFORD LM; MUECHER G; HOPKINS SD; AVNER ED; GERMINO GG; GUILLOT AP; HERRIN J; HOLLEMAN R; IRONS DA; PRIMACK W; THOMSON PD; WALDO FB; LUNT PW; ZERRES K
      THE SEVERE PERINATAL FORM OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE MAPS TO CHROMOSOME 6P21.1-P12 - IMPLICATIONS FOR GENETIC-COUNSELING

      American journal of human genetics
    35. GUAYWOODFORD LM; HOPKINS SD; MUECHER G; ZERRES K
      THE SEVERE PERINATAL PHENOTYPE OF ARPKD (AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE) MAPS TO CHROMOSOME 6P21-CEN

      Journal of the American Society of Nephrology
    36. GUAYWOODFORD LM; BRUNS GAP; DEUSTACHIO P
      IDENTIFICATION OF A SIMPLE SEQUENCE POLYMORPHISM WITHIN THE MOUSE LOCUS D12NYU2

      Mammalian genome
    37. GUAYWOODFORD LM; BRUNS GAP; DEUSTACHIO P
      IDENTIFICATION OF A SIMPLE SEQUENCE POLYMORPHISM WITHIN THE MOUSE LOCUS D12NYU2 (VOL 5, PG 251, 1994)

      Mammalian genome
    38. SIMON EA; COOK S; DAVISSON MT; DEUSTACHIO P; GUAYWOODFORD LM
      THE MOUSE CONGENITAL POLYCYSTIC KIDNEY (CPK) LOCUS MAPS WITHIN 1.3 CMOF THE CHROMOSOME-12 MARKER D12NYU2

      Genomics
    39. DAGATA IDA; JONAS MM; PEREZATAYDE AR; GUAYWOODFORD LM
      COMBINED CYSTIC-DISEASE OF THE LIVER AND KIDNEY

      Seminars in liver disease
    40. ROSENBLUM ND; GUAYWOODFORD LM; YAGER TD
      IDENTIFICATION AND CHARACTERIZATION OF NOVEL GENES EXPRESSED DURING EARLY METANEPHRIC INDUCTION

      Pediatric research
    41. HOLTZMAN EJ; HARRIS HW; KOLAKOWSKI LF; GUAYWOODFORD LM; BOTELHO B; AUSIELLO DA
      A MOLECULAR DEFECT IN THE VASOPRESSIN V2-RECEPTOR GENE CAUSING NEPHROGENIC DIABETES-INSIPIDUS

      The New England journal of medicine
    42. LANDE MB; KIM MS; BARTLETT C; GUAYWOODFORD LM
      REVERSIBLE FANCONI SYNDROME-ASSOCIATED WITH VALPROATE THERAPY

      The Journal of pediatrics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/10/20 alle ore 09:59:56