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    1. Scriver, CR
      Human genetics: Lessons from Quebec populations

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. Waters, PJ; Scriver, CR; Parniak, MA
      Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: Evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia

      MOLECULAR GENETICS AND METABOLISM
    3. Fukao, T; Scriver, CR; Kondo, N
      The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients

      MOLECULAR GENETICS AND METABOLISM
    4. Waters, PJ; Parniak, MA; Akerman, BR; Scriver, CR
      Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype, (vol 69, pg 101, 2000)

      MOLECULAR GENETICS AND METABOLISM
    5. Scriver, CR
      Work, the clinician-scientist and human biochemical genetics

      CLINICAL AND INVESTIGATIVE MEDICINE-MEDECINE CLINIQUE ET EXPERIMENTALE
    6. Scriver, CR
      Garrod's foresight; our hindsight

      JOURNAL OF INHERITED METABOLIC DISEASE
    7. Scriver, CR; Andermann, E; Capua, A; Cartier, L; Delvin, E; Clow, C; Gold, R; Hechtman, P; Kaplan, F; Mitchell, J; Phommarinh, K; Wolfe, L; Yak, S; Zeesman, S; Bayleran, J; Beck, E; Blaichman, S
      Not preventing - Yet, just avoiding Tay-Sachs disease

      TAY-SACHS DISEASE
    8. Sarkissian, CN; Boulais, DM; McDonald, JD; Scriver, CR
      A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia

      MOLECULAR GENETICS AND METABOLISM
    9. Waters, PJ; Parniak, MA; Akerman, BR; Scriver, CR
      Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype

      MOLECULAR GENETICS AND METABOLISM
    10. Scriver, CR; Nowacki, PM; Lehvaslaiho, H
      Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress

      HUMAN MUTATION
    11. Scriver, CR; Waters, PJ; Sarkissian, C; Ryan, S; Prevost, L; Cote, D; Novak, J; Teebi, S; Nowacki, PM
      PAHdb: A locus-specific knowledgebase

      HUMAN MUTATION
    12. Scriver, CR
      Before birth: the journey and the arrival

      M S-MEDECINE SCIENCES
    13. Scriver, CR
      Mutation analysis in metabolic (and other genetic) disease: how soon, how useful

      EUROPEAN JOURNAL OF PEDIATRICS
    14. Maurer, SM; Firestone, RB; Scriver, CR
      Science's neglected legacy

      NATURE
    15. Sarkissian, CN; Scriver, CR; Mamer, OA
      Measurement of phenyllactate, phenylacetate, and phenylpyruvate by negative ion chemical ionization-gas chromatography/mass spectrometry in brain of mouse genetic models of phenylketonuria and non-phenylketonuria hyperphenylalaninemia

      ANALYTICAL BIOCHEMISTRY
    16. Scriver, CR; Treacy, EP
      Is there treatment for "genetic" disease?

      MOLECULAR GENETICS AND METABOLISM
    17. Scriver, CR; Nowacki, PM; Lehvaslaiho, H
      Guidelines and recommendations for content, structure, and deployment of mutation databases

      HUMAN MUTATION
    18. Scriver, CR; Waters, PJ
      Monogenic traits are not simple - lessons from phenylketonuria

      TRENDS IN GENETICS
    19. Scriver, CR; Nowacki, PM
      Genomics, mutations and the Internet: The naming and use of parts

      JOURNAL OF INHERITED METABOLIC DISEASE
    20. Waters, PJ; Parniak, MA; Akerman, BR; Jones, AO; Scriver, CR
      Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria

      JOURNAL OF INHERITED METABOLIC DISEASE
    21. Sarkissian, CN; Shao, ZQ; Blain, F; Peevers, R; Su, HS; Heft, R; Chang, TMS; Scriver, CR
      A different approach to treatment of phenylketonuria: Phenylalanine degradation with recombinant phenylalanine ammonia lyase

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    22. POUDRIER J; LETTRE F; SCRIVER CR; LAROCHELLE J; TANGUAY RM
      DIFFERENT CLINICAL FORMS OF HEREDITARY TYROSINEMIA (TYPE-I) IN PATIENTS WITH IDENTICAL GENOTYPES

      MOLECULAR GENETICS AND METABOLISM
    23. WATERS PJ; PARNIAK MA; HEWSON AS; SCRIVER CR
      ALTERATIONS IN PROTEIN AGGREGATION AND DEGRADATION DUE TO MILD AND SEVERE MISSENSE MUTATIONS (A104D, R157N) IN THE HUMAN PHENYLALANINE-HYDROXYLASE GENE (PAH)

      Human mutation
    24. COTTON RGH; SCRIVER CR
      PROOF OF DISEASE-CAUSING MUTATION

      Human mutation
    25. WATERS PJ; PARNIAK MA; NOWACKI P; SCRIVER CR
      IN-VITRO EXPRESSION ANALYSIS OF MUTATIONS IN PHENYLALANINE-HYDROXYLASE - LINKING GENOTYPE TO PHENOTYPE AND STRUCTURE TO FUNCTION

      Human mutation
    26. WATERS PJ; PARNIAK MA; NOWACKI P; SCRIVER CR
      IN-VITRO EXPRESSION ANALYSIS OF MUTATIONS IN PHENYLALANINE-HYDROXYLASE - LINKING GENOTYPE TO PHENOTYPE AND STRUCTURE TO FUNCTION

      Human mutation
    27. CARTER KC; BYCK S; WATERS PJ; RICHARDS B; NOWACKI PM; LAFRAMBOISE R; LAMBERT M; TREACY E; SCRIVER CR
      MUTATION AT THE PHENYLALANINE-HYDROXYLASE GENE (PAH) AND ITS USE TO DOCUMENT POPULATION GENETIC-VARIATION - THE QUEBEC EXPERIENCE

      European journal of human genetics
    28. NOWACKI PM; BYCK S; PREVOST L; SCRIVER CR
      PAH-MUTATION-ANALYSIS-CONSORTIUM-DATABASE - 1997 - PROTOTYPE FOR RELATIONAL LOCUS-SPECIFIC MUTATION DATABASES

      Nucleic acids research
    29. WATERS PJ; SCRIVER CR; PARNIAK MA
      DEGRADATION RATES DIFFER BETWEEN MUTANT AND WILD-TYPE FORMS OF PHENYLALANINE-HYDROXYLASE EXPRESSED IN-VITRO

      Biochemical Society transactions
    30. COTTON RGH; MCKUSICK V; SCRIVER CR
      THE HUGO MUTATION DATABASE INITIATIVE

      Science
    31. SCRIVER CR
      A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN-INFANTS, BY GUTHRIE,ROBERT AND SUSI,ADA, PEDIATRICS, 1963-32 318-343 - COMMENTARY/

      Pediatrics (Evanston)
    32. SCRIVER CR
      AN ONGOING DEBATE OVER PHENYLALANINE-HYDROXYLASE DEFICIENCY IN PHENYLKETONURIA

      The Journal of clinical investigation
    33. BYCK S; TYFIELD L; CARTER K; SCRIVER CR
      PREDICTION OF MULTIPLE HYPERMUTABLE CODONS IN THE HUMAN PAH GENE - CODON-280 CONTAINS RECURRENT MUTATIONS IN QUEBEC AND OTHER POPULATIONS

      Human mutation
    34. MARTINO T; KAPLAN F; DIAMOND S; OPPENHEIM A; SCRIVER CR
      PROBABLE IDENTITY BY DESCENT AND DISCOVERY OF FAMILIAL RELATIONSHIPS BY MEANS OF A RARE BETA-THALASSEMIA HAPLOTYPE

      Human mutation
    35. NOWACKI P; BYCK S; PREVOST L; SCRIVER CR
      THE PAH MUTATION ANALYSIS CONSORTIUM DATABASE - UPDATE 1996

      Nucleic acids research
    36. WATERS PJ; HEWSON AS; SCRIVER CR; TREACY EP; MARTINEZ A; KNAPPSKOG PM; PARNIAK MA
      COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE A104D MUTANT, ASSOCIATED WITH VARIANT PHENYLKETONURIA, AND WILD-TYPE ENZYME

      Biochemical Society transactions
    37. SASI K; SANDERSON D; EYDOUX P; CARTIER L; SCRIVER CR; TREACY E
      PRENATAL-DIAGNOSIS FOR INBORN-ERRORS OF METABOLISM AND HEMOGLOBINOPATHIES - THE MONTREAL-CHILDRENS-HOSPITAL EXPERIENCE

      Prenatal diagnosis
    38. SCRIVER CR
      REALITIES AND VIRTUAL REALITIES OF INBORN-ERRORS OF METABOLISM - BIOCHEMICAL GENETICS IN THE MOLECULAR-GENETIC ERA

      American journal of medical genetics
    39. TREACY EP; DELENTE JJ; ELKAS G; CARTER K; LAMBERT M; WATERS PJ; SCRIVER CR
      ANALYSIS OF PHENYLALANINE-HYDROXYLASE GENOTYPES AND HYPERPHENYLALANINEMIA PHENOTYPES USING L-[1-C-13]PHENYLALANINE OXIDATION RATES IN-VIVO - A PILOT-STUDY

      Pediatric research
    40. KAYAALP E; TREACY E; WATERS PJ; BYCK S; NOWACKI P; SCRIVER CR
      HUMAN PHENYLALANINE-HYDROXYLASE MUTATIONS AND HYPERPHENYLALANINEMIA PHENOTYPES - A METANALYSIS OF GENOTYPE-PHENOTYPE CORRELATIONS

      American journal of human genetics
    41. SARKISSIAN CN; SHAO Z; BLAIN F; PEEVERS R; SU H; FULLER MA; SCRIVER CR
      EFFECT OF ORAL PHENYLALANINE AMMONIA-LYASE (PAL) ON PLASMA PHENYLALANINE LEVELS IN A GENETIC MOUSE ORTHOLOGUE OF PKU

      American journal of human genetics
    42. SNIDERMAN LC; LAMBERT M; GIGUERE R; ROSENBLATT DS; AURAYBLAIS C; LEMIEUX B; SCRIVER CR; LAFRAMBOISE R; TREACY E
      OUTCOME OF PATIENTS WITH LOW-MODERATE METHYLMALONIC ACIDURIA IN QUEBEC

      American journal of human genetics
    43. WATERS PJ; HEWSON AS; PARNIAK MA; CARTER K; KAYAALP E; LAFRAMBOISE R; TREACY EP; SCRIVER CR
      ANALYSIS OF THE [C.470G-]A-C.471A-]C] (R157N) MUTATION IN HUMAN PHENYLALANINE-HYDROXYLASE BY IN-VITRO PROTEIN EXPRESSION IN 3 SYSTEMS - CORRELATION WITH IN-VIVO PHENYLALANINE OXIDATION AND PHENYLKETONURIA PHENOTYPE

      American journal of human genetics
    44. SCRIVER CR
      ALKAPTONURIA - SUCH A LONG JOURNEY

      Nature genetics
    45. BEAUDET AL; ANTONARAKIS SE; BEUTLER E; COTTON RGH; DESNICK RJ; KAZAZIAN HH; MCALPINE PJ; MCKUSICK A; MOTULSKY AG; SCRIVER CR; SHOWS TB; TSUI LC; VALLE D
      UPDATE ON NOMENCLATURE FOR HUMAN GENE-MUTATIONS

      Human mutation
    46. BEUTLER E; MCKUSICK VA; MOTULSKY AG; SCRIVER CR; HUTCHINSON F
      MUTATION NOMENCLATURE - NICKNAMES, SYSTEMATIC NAMES, AND UNIQUE IDENTIFIERS

      Human mutation
    47. HOANG L; BYCK S; PREVOST L; SCRIVER CR
      PAH MUTATION ANALYSIS CONSORTIUM DATABASE - A DATABASE FOR DISEASE-PRODUCING AND OTHER ALLELIC VARIATION AT THE HUMAN PAH LOCUS

      Nucleic acids research
    48. SCRIVER CR
      GENETIC SCREENING, TESTING AND TREATMENT - HOW FAR CAN WE GO

      Journal of inherited metabolic disease
    49. TREACY EP; DELENTE JJ; ELKAS G; CARTER K; WATERS P; SCRIVER CR
      IN-VIVO STUDIES OF C-13-PHENYLALANINE OXIDATION IN HYPERPHENYL-ALANINEMIA

      Pediatric research
    50. TREACY E; ARBOUR L; CHESSEX P; GRAHAM G; KASPRZAK L; CASEY K; BELL L; MAMER O; SCRIVER CR
      GLUTATHIONE DEFICIENCY AS A COMPLICATION OF METHYLMALONIC ACIDEMIA - RESPONSE TO HIGH-DOSES OF ASCORBATE

      The Journal of pediatrics
    51. WATERS PJ; HEWSON AS; SCRIVER CR; MARTINEZ A; KNAPPSKOG PM; PARNIAK MA
      COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE (PAH) A104D MUTANT,ASSOCIATED WITH VARIANT PHENYLKETONURIA (PKU) AND WILD-TYPE ENZYME

      Immunology
    52. LEDOUX P; SCRIVER CR; HECHTMAN P
      EXPRESSION AND MOLECULAR ANALYSIS OF MUTATIONS IN PROLIDASE DEFICIENCY

      American journal of human genetics
    53. MITCHELL JJ; CAPUA A; CLOW C; SCRIVER CR
      20-YEAR OUTCOME ANALYSIS OF GENETIC SCREENING PROGRAMS FOR TAY-SACHS AND BETA-THALASSEMIA DISEASE CARRIERS IN HIGH-SCHOOLS

      American journal of human genetics
    54. SHEVELL MI; DIDOMENICANTONIO G; SYLVAIN M; ARNOLD DL; OGORMAN AM; SCRIVER CR
      GLUTARIC ACIDEMIA TYPE-II - NEUROIMAGING AND SPECTROSCOPY EVIDENCE FOR DEVELOPMENTAL ENCEPHALOMYOPATHY

      Pediatric neurology
    55. SCRIVER CR
      AMERICAN-PEDIATRIC-SOCIETY PRESIDENTIAL-ADDRESS 1995 - DISEASE, WAR, AND BIOLOGY - LANGUAGES FOR MEDICINE - AND PEDIATRICS

      Pediatric research
    56. SCRIVER CR
      WHATEVER HAPPENED TO PKU

      Clinical biochemistry
    57. HOANG L; BYCK S; CARTER K; PREVOST L; SCRIVER CR
      GENETIC GEOGRAPHY AND EVIDENCE FOR SELECTION, DRIFT, MIGRATION AND RECURRENT MUTATION AT THE PAH LOCUS IN HUMAN-POPULATIONS

      American journal of human genetics
    58. BYCK S; TYFIELD L; SCRIVER CR
      ANALYSIS OF STR ALLELE SIZE AND VNTR SEQUENCE FOR DETERMINING RECURRENT PAH GENE-MUTATIONS - THE E280K EXAMPLE

      American journal of human genetics
    59. CARTER KC; ROZEN R; BYCK S; SCRIVER CR
      NOVEL MUTATIONS AND HETEROGENEITY OF THE PHENYLALANINE-HYDROXYLASE (PAH) GENE ON QUEBEC PKU CHROMOSOMES

      American journal of human genetics
    60. LEDOUX P; SCRIVER CR; HECHTMAN P
      EXPRESSION OF PROLIDASE MUTATIONS IN HETEROLOGOUS CELLS

      American journal of human genetics
    61. TREACY E; CHILDS B; SCRIVER CR
      RESPONSE TO TREATMENT IN HEREDITARY METABOLIC DISEASE - 1993 SURVEY AND 10-YEAR COMPARISON

      American journal of human genetics
    62. EISENSMITH RC; GOLTSOV AA; ONEILL C; TYFIELD LA; SCHWARTZ EI; KUZMIN AI; BARANOVSKAYA SS; TSUKERMAN GL; TREACY E; SCRIVER CR; GUTTLER F; GULDBERG P; EIKEN HG; APOLD J; SVENSSON E; NAUGHTEN E; CAHALANE SF; CROKE DT; COCKBURN F; WOO SLC
      RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS

      American journal of human genetics
    63. BYCK S; MORGAN K; TYFIELD L; DWORNICZAK B; SCRIVER CR
      EVIDENCE FOR ORIGIN, BY RECURRENT MUTATION, OF THE PHENYLALANINE-HYDROXYLASE-R408W MUTATION ON 2 HAPLOTYPES IN EUROPEAN AND QUEBEC POPULATIONS

      Human molecular genetics
    64. SHEVELL MI; MATTHEWS PM; SCRIVER CR; BROWN RM; OTERO LJ; LEGRIS M; BROWN GK; ARNOLD DL
      CEREBRAL DYSGENESIS AND LACTIC ACIDEMIA - AN MRI MRS PHENOTYPE ASSOCIATED WITH PYRUVATE-DEHYDROGENASE DEFICIENCY/

      Pediatric neurology
    65. SYLVAIN M; ARNOLD DL; SCRIVER CR; SCHREIBER R; SHEVELL MI
      MAGNETIC-RESONANCE SPECTROSCOPY IN NIEMANN-PICK DISEASE TYPE-C - CORRELATION WITH DIAGNOSIS AND CLINICAL-RESPONSE TO CHOLESTYRAMINE AND LOVASTATIN

      Pediatric neurology
    66. SCRIVER CR
      SCIENCE, MEDICINE AND PHENYLKETONURIA

      Acta paediatrica
    67. SCRIVER CR; EISENSMITH RC; WOO SLC; KAUFMAN S
      THE HYPERPHENYLALANINEMIAS OF MAN AND MOUSE

      Annual review of genetics
    68. MATTHEWS PM; BROWN RM; OTERO LJ; MARCHINGTON DR; LEGRIS M; HOWES R; MEADOWS LS; SHEVELL M; SCRIVER CR; BROWN GK
      PYRUVATE-DEHYDROGENASE DEFICIENCY - CLINICAL PRESENTATION AND MOLECULAR-GENETIC CHARACTERIZATION OF 5 NEW PATIENTS

      Brain
    69. ROZEN R; MASCISCH A; LAMBERT M; LAFRAMBOISE R; SCRIVER CR
      MUTATION PROFILES OF PHENYLKETONURIA IN QUEBEC POPULATIONS - EVIDENCEOF STRATIFICATION AND NOVEL MUTATIONS

      American journal of human genetics
    70. FUKAO T; YAMAGUCHI S; SCRIVER CR; DUNBAR G; WAKAZONO A; KANO M; ORII T; HASHIMOTO T
      MOLECULAR STUDIES OF MITOCHONDRIAL ACETOACETYL-COENZYME A THIOLASE DEFICIENCY IN THE 2 ORIGINAL FAMILIES

      Human mutation
    71. SCRIVER CR
      1992 GENETICS-SOCIETY-OF-CANADA AWARD OF EXCELLENCE LECTURE - GENES, SCIENCE, AND SOCIETY

      Genome
    72. ZIP CM; ROSS JB; GREAVES MW; SCRIVER CR; MITCHELL JJ; ZOAR S
      FAMILIAL COLD URTICARIA

      Clinical and experimental dermatology
    73. SCRIVER CR
      CHILD HEALTH THE GENOME PROJECT AND PHENYLKETONURIA

      Turkish Journal of Pediatrics
    74. SHEVELL MI; ARNOLD DL; MATTHEWS PM; BROWN RM; BROWN GK; SCRIVER CR
      CEREBRAL DYSGENESIS AND LACTIC ACIDEMIA WITH REDUCED MUSCLE PHOSPHORYLATION POTENTIAL - AN MRI MRS-PHENOTYPE DIAGNOSTIC OF PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY/

      Neurology
    75. SYLVAIN M; ARNOLD DL; SCRIVER CR; SHEVELL MI
      MAGNETIC-RESONANCE SPECTROSCOPY IN NIEMANN-PICK DISEASE TYPE-C - CORRELATION WITH DIAGNOSIS AND CLINICAL-RESPONSE TO TREATMENT WITH CHOLESTYRAMINE AND LOVASTATIN

      Neurology
    76. MITCHELL J; SCRIVER CR; CLOW CL; KAPLAN F
      WHAT YOUNG-PEOPLE THINK AND DO WHEN THE OPTION FOR CYSTIC-FIBROSIS CARRIER TESTING IS AVAILABLE

      Journal of Medical Genetics
    77. QIU ZQ; TENENHOUSE HS; SCRIVER CR
      PARENTAL ORIGIN OF MUTANT ALLELE DOES NOT EXPLAIN ABSENCE OF GENE DOSE IN X-LINKED HYP MICE

      Genetical Research
    78. LEDOUX P; SCRIVER CR; HECHTMAN P
      IDENTIFICATION OF 3 NOVEL ALLELES CAUSING PROLIDASE DEFICIENCY

      American journal of human genetics


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Documento generato il 23/10/20 alle ore 04:56:48