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Results: 1-25 | 26-50 | 51-57
Results: 1-25/57
DIFFERENT CLINICAL FORMS OF HEREDITARY TYROSINEMIA (TYPE-I) IN PATIENTS WITH IDENTICAL GENOTYPES
Authors: POUDRIER J LETTRE F SCRIVER CR LAROCHELLE J TANGUAY RM
Citation: J. Poudrier et al., DIFFERENT CLINICAL FORMS OF HEREDITARY TYROSINEMIA (TYPE-I) IN PATIENTS WITH IDENTICAL GENOTYPES, MOLECULAR GENETICS AND METABOLISM, 64(2), 1998, pp. 119-125
ALTERATIONS IN PROTEIN AGGREGATION AND DEGRADATION DUE TO MILD AND SEVERE MISSENSE MUTATIONS (A104D, R157N) IN THE HUMAN PHENYLALANINE-HYDROXYLASE GENE (PAH)
Authors: WATERS PJ PARNIAK MA HEWSON AS SCRIVER CR
Citation: Pj. Waters et al., ALTERATIONS IN PROTEIN AGGREGATION AND DEGRADATION DUE TO MILD AND SEVERE MISSENSE MUTATIONS (A104D, R157N) IN THE HUMAN PHENYLALANINE-HYDROXYLASE GENE (PAH), Human mutation, 12(5), 1998, pp. 344-354
PROOF OF DISEASE-CAUSING MUTATION
Authors: COTTON RGH SCRIVER CR
Citation: Rgh. Cotton et Cr. Scriver, PROOF OF DISEASE-CAUSING MUTATION, Human mutation, 12(1), 1998, pp. 1-3
IN-VITRO EXPRESSION ANALYSIS OF MUTATIONS IN PHENYLALANINE-HYDROXYLASE - LINKING GENOTYPE TO PHENOTYPE AND STRUCTURE TO FUNCTION
Authors: WATERS PJ PARNIAK MA NOWACKI P SCRIVER CR
Citation: Pj. Waters et al., IN-VITRO EXPRESSION ANALYSIS OF MUTATIONS IN PHENYLALANINE-HYDROXYLASE - LINKING GENOTYPE TO PHENOTYPE AND STRUCTURE TO FUNCTION, Human mutation, 11(1), 1998, pp. 4-17
IN-VITRO EXPRESSION ANALYSIS OF MUTATIONS IN PHENYLALANINE-HYDROXYLASE - LINKING GENOTYPE TO PHENOTYPE AND STRUCTURE TO FUNCTION
Authors: WATERS PJ PARNIAK MA NOWACKI P SCRIVER CR
Citation: Pj. Waters et al., IN-VITRO EXPRESSION ANALYSIS OF MUTATIONS IN PHENYLALANINE-HYDROXYLASE - LINKING GENOTYPE TO PHENOTYPE AND STRUCTURE TO FUNCTION, Human mutation, 11(1), 1998, pp. 4-17
MUTATION AT THE PHENYLALANINE-HYDROXYLASE GENE (PAH) AND ITS USE TO DOCUMENT POPULATION GENETIC-VARIATION - THE QUEBEC EXPERIENCE
Authors: CARTER KC BYCK S WATERS PJ RICHARDS B NOWACKI PM LAFRAMBOISE R LAMBERT M TREACY E SCRIVER CR
Citation: Kc. Carter et al., MUTATION AT THE PHENYLALANINE-HYDROXYLASE GENE (PAH) AND ITS USE TO DOCUMENT POPULATION GENETIC-VARIATION - THE QUEBEC EXPERIENCE, European journal of human genetics, 6(1), 1998, pp. 61-70
PAH-MUTATION-ANALYSIS-CONSORTIUM-DATABASE - 1997 - PROTOTYPE FOR RELATIONAL LOCUS-SPECIFIC MUTATION DATABASES
Authors: NOWACKI PM BYCK S PREVOST L SCRIVER CR
Citation: Pm. Nowacki et al., PAH-MUTATION-ANALYSIS-CONSORTIUM-DATABASE - 1997 - PROTOTYPE FOR RELATIONAL LOCUS-SPECIFIC MUTATION DATABASES, Nucleic acids research, 26(1), 1998, pp. 220-225
DEGRADATION RATES DIFFER BETWEEN MUTANT AND WILD-TYPE FORMS OF PHENYLALANINE-HYDROXYLASE EXPRESSED IN-VITRO
Authors: WATERS PJ SCRIVER CR PARNIAK MA
Citation: Pj. Waters et al., DEGRADATION RATES DIFFER BETWEEN MUTANT AND WILD-TYPE FORMS OF PHENYLALANINE-HYDROXYLASE EXPRESSED IN-VITRO, Biochemical Society transactions, 26(3), 1998, pp. 276-276
THE HUGO MUTATION DATABASE INITIATIVE
Authors: COTTON RGH MCKUSICK V SCRIVER CR
Citation: Rgh. Cotton et al., THE HUGO MUTATION DATABASE INITIATIVE, Science, 279(5347), 1998, pp. 10-11
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/
Authors: SCRIVER CR
Citation: Cr. Scriver, 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), 102(1), 1998, pp. 236-237
AN ONGOING DEBATE OVER PHENYLALANINE-HYDROXYLASE DEFICIENCY IN PHENYLKETONURIA
Authors: SCRIVER CR
Citation: Cr. Scriver, AN ONGOING DEBATE OVER PHENYLALANINE-HYDROXYLASE DEFICIENCY IN PHENYLKETONURIA, The Journal of clinical investigation, 101(12), 1998, pp. 2613-2614
PREDICTION OF MULTIPLE HYPERMUTABLE CODONS IN THE HUMAN PAH GENE - CODON-280 CONTAINS RECURRENT MUTATIONS IN QUEBEC AND OTHER POPULATIONS
Authors: BYCK S TYFIELD L CARTER K SCRIVER CR
Citation: S. Byck et al., PREDICTION OF MULTIPLE HYPERMUTABLE CODONS IN THE HUMAN PAH GENE - CODON-280 CONTAINS RECURRENT MUTATIONS IN QUEBEC AND OTHER POPULATIONS, Human mutation, 9(4), 1997, pp. 316-321
PROBABLE IDENTITY BY DESCENT AND DISCOVERY OF FAMILIAL RELATIONSHIPS BY MEANS OF A RARE BETA-THALASSEMIA HAPLOTYPE
Authors: MARTINO T KAPLAN F DIAMOND S OPPENHEIM A SCRIVER CR
Citation: T. Martino et al., PROBABLE IDENTITY BY DESCENT AND DISCOVERY OF FAMILIAL RELATIONSHIPS BY MEANS OF A RARE BETA-THALASSEMIA HAPLOTYPE, Human mutation, 9(1), 1997, pp. 86-87
THE PAH MUTATION ANALYSIS CONSORTIUM DATABASE - UPDATE 1996
Authors: NOWACKI P BYCK S PREVOST L SCRIVER CR
Citation: P. Nowacki et al., THE PAH MUTATION ANALYSIS CONSORTIUM DATABASE - UPDATE 1996, Nucleic acids research, 25(1), 1997, pp. 139-142
COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE A104D MUTANT, ASSOCIATED WITH VARIANT PHENYLKETONURIA, AND WILD-TYPE ENZYME
Authors: WATERS PJ HEWSON AS SCRIVER CR TREACY EP MARTINEZ A KNAPPSKOG PM PARNIAK MA
Citation: Pj. Waters et al., COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE A104D MUTANT, ASSOCIATED WITH VARIANT PHENYLKETONURIA, AND WILD-TYPE ENZYME, Biochemical Society transactions, 25(2), 1997, pp. 362-362
PRENATAL-DIAGNOSIS FOR INBORN-ERRORS OF METABOLISM AND HEMOGLOBINOPATHIES - THE MONTREAL-CHILDRENS-HOSPITAL EXPERIENCE
Authors: SASI K SANDERSON D EYDOUX P CARTIER L SCRIVER CR TREACY E
Citation: K. Sasi et al., PRENATAL-DIAGNOSIS FOR INBORN-ERRORS OF METABOLISM AND HEMOGLOBINOPATHIES - THE MONTREAL-CHILDRENS-HOSPITAL EXPERIENCE, Prenatal diagnosis, 17(7), 1997, pp. 681-685
REALITIES AND VIRTUAL REALITIES OF INBORN-ERRORS OF METABOLISM - BIOCHEMICAL GENETICS IN THE MOLECULAR-GENETIC ERA
Authors: SCRIVER CR
Citation: Cr. Scriver, REALITIES AND VIRTUAL REALITIES OF INBORN-ERRORS OF METABOLISM - BIOCHEMICAL GENETICS IN THE MOLECULAR-GENETIC ERA, American journal of medical genetics, 69(1), 1997, pp. 1-6
ANALYSIS OF PHENYLALANINE-HYDROXYLASE GENOTYPES AND HYPERPHENYLALANINEMIA PHENOTYPES USING L-[1-C-13]PHENYLALANINE OXIDATION RATES IN-VIVO - A PILOT-STUDY
Authors: TREACY EP DELENTE JJ ELKAS G CARTER K LAMBERT M WATERS PJ SCRIVER CR
Citation: Ep. Treacy et al., ANALYSIS OF PHENYLALANINE-HYDROXYLASE GENOTYPES AND HYPERPHENYLALANINEMIA PHENOTYPES USING L-[1-C-13]PHENYLALANINE OXIDATION RATES IN-VIVO - A PILOT-STUDY, Pediatric research, 42(4), 1997, pp. 430-435
HUMAN PHENYLALANINE-HYDROXYLASE MUTATIONS AND HYPERPHENYLALANINEMIA PHENOTYPES - A METANALYSIS OF GENOTYPE-PHENOTYPE CORRELATIONS
Authors: KAYAALP E TREACY E WATERS PJ BYCK S NOWACKI P SCRIVER CR
Citation: E. Kayaalp et al., HUMAN PHENYLALANINE-HYDROXYLASE MUTATIONS AND HYPERPHENYLALANINEMIA PHENOTYPES - A METANALYSIS OF GENOTYPE-PHENOTYPE CORRELATIONS, American journal of human genetics, 61(6), 1997, pp. 1309-1317
EFFECT OF ORAL PHENYLALANINE AMMONIA-LYASE (PAL) ON PLASMA PHENYLALANINE LEVELS IN A GENETIC MOUSE ORTHOLOGUE OF PKU
Authors: SARKISSIAN CN SHAO Z BLAIN F PEEVERS R SU H FULLER MA SCRIVER CR
Citation: Cn. Sarkissian et al., EFFECT OF ORAL PHENYLALANINE AMMONIA-LYASE (PAL) ON PLASMA PHENYLALANINE LEVELS IN A GENETIC MOUSE ORTHOLOGUE OF PKU, American journal of human genetics, 61(4), 1997, pp. 182-182
OUTCOME OF PATIENTS WITH LOW-MODERATE METHYLMALONIC ACIDURIA IN QUEBEC
Authors: SNIDERMAN LC LAMBERT M GIGUERE R ROSENBLATT DS AURAYBLAIS C LEMIEUX B SCRIVER CR LAFRAMBOISE R TREACY E
Citation: Lc. Sniderman et al., OUTCOME OF PATIENTS WITH LOW-MODERATE METHYLMALONIC ACIDURIA IN QUEBEC, American journal of human genetics, 61(4), 1997, pp. 1522-1522
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
Authors: WATERS PJ HEWSON AS PARNIAK MA CARTER K KAYAALP E LAFRAMBOISE R TREACY EP SCRIVER CR
Citation: Pj. Waters et al., 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, 61(4), 1997, pp. 1532-1532
ALKAPTONURIA - SUCH A LONG JOURNEY
Authors: SCRIVER CR
Citation: Cr. Scriver, ALKAPTONURIA - SUCH A LONG JOURNEY, Nature genetics, 14(1), 1996, pp. 5-6
UPDATE ON NOMENCLATURE FOR HUMAN GENE-MUTATIONS
Authors: 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
Citation: Al. Beaudet et al., UPDATE ON NOMENCLATURE FOR HUMAN GENE-MUTATIONS, Human mutation, 8(3), 1996, pp. 197-202
MUTATION NOMENCLATURE - NICKNAMES, SYSTEMATIC NAMES, AND UNIQUE IDENTIFIERS
Authors: BEUTLER E MCKUSICK VA MOTULSKY AG SCRIVER CR HUTCHINSON F
Citation: E. Beutler et al., MUTATION NOMENCLATURE - NICKNAMES, SYSTEMATIC NAMES, AND UNIQUE IDENTIFIERS, Human mutation, 8(3), 1996, pp. 203-206
Risultati: 1-25 | 26-50 | 51-57