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Results: 1-25 | 26-29
Results: 1-25/29
QUANTIFICATION OF (G)GAMMA-GLOBINS AND (A)GAMMA-GLOBINS BY ELECTROSPRAY-IONIZATION MASS-SPECTROMETRY
Authors: OFORIACQUAH SF GREEN BN WILD BJ LALLOZ MRA LAYTON DM
Citation: Sf. Oforiacquah et al., QUANTIFICATION OF (G)GAMMA-GLOBINS AND (A)GAMMA-GLOBINS BY ELECTROSPRAY-IONIZATION MASS-SPECTROMETRY, INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2(4), 1998, pp. 451-453
FUNCTIONAL-ROLE OF POLYMORPHIC ENHANCER ELEMENTS ON FETAL HEMOGLOBIN EXPRESSION IN SICKLE-CELL-ANEMIA
Authors: OFORIACQUAH SF LALLOZ MRA ANTONIOU M SERJEANT GR LAYTON DM
Citation: Sf. Oforiacquah et al., FUNCTIONAL-ROLE OF POLYMORPHIC ENHANCER ELEMENTS ON FETAL HEMOGLOBIN EXPRESSION IN SICKLE-CELL-ANEMIA, British Journal of Haematology, 101, 1998, pp. 22-22
INTERETHNIC VARIATION IN PREVALENCE OF MUTATION WITHIN FUNCTIONAL ELEMENTS OF THE TRIOSEPHOSPHATE ISOMERASE GENE PROMOTER
Authors: HUMPHRIES AL ATIONU A LALLOZ MRA WILD BJ LAYTON DM
Citation: Al. Humphries et al., INTERETHNIC VARIATION IN PREVALENCE OF MUTATION WITHIN FUNCTIONAL ELEMENTS OF THE TRIOSEPHOSPHATE ISOMERASE GENE PROMOTER, British Journal of Haematology, 101, 1998, pp. 115-115
PROSPECT FOR ENZYME REPLACEMENT THERAPY IN A RED-CELL ENZYMOPATHY - TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
Authors: ATIONU A HUMPHRIES AL WARLOW J MORGAN J ARYA R LALLOZ MRA BELLINGHAM AJ LAYTON DM
Citation: A. Ationu et al., PROSPECT FOR ENZYME REPLACEMENT THERAPY IN A RED-CELL ENZYMOPATHY - TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, British Journal of Haematology, 101, 1998, pp. 116-116
G6PD-BRIGHTON - A NEW CLASS-I GLUCOSE-6-PHOSPHATE-DEHYDROGENASE VARIANT DUE TO A DELETION IN EXON-13
Authors: MCGONIGLE DP LALLOZ MRA WILD BJ LAYTON DM
Citation: Dp. Mcgonigle et al., G6PD-BRIGHTON - A NEW CLASS-I GLUCOSE-6-PHOSPHATE-DEHYDROGENASE VARIANT DUE TO A DELETION IN EXON-13, British Journal of Haematology, 101, 1998, pp. 117-117
IDENTIFICATION OF NOVEL HEMOGLOBIN-VARIANTS HB HACKNEY ALPHA(27)(GLU-]ALA), HB ST MARYS BETA(101)(GLU-]ALA) BY MASS-SPECTROMETRY
Authors: WILD BJ GREEN BN LALLOZ MRA ERTEN S AMOS RJ HORN J WICKRAMASINGHE SN STEPHENS AD LAYTON DM
Citation: Bj. Wild et al., IDENTIFICATION OF NOVEL HEMOGLOBIN-VARIANTS HB HACKNEY ALPHA(27)(GLU-]ALA), HB ST MARYS BETA(101)(GLU-]ALA) BY MASS-SPECTROMETRY, British Journal of Haematology, 101, 1998, pp. 125-125
MOLECULAR-BASIS FOR VARIABLE CLINICAL EXPRESSION OF WISKOTT-ALDRICH SYNDROME
Authors: THOMPSON LJ LALLOZ MRA HIRST WJR LAYTON DM
Citation: Lj. Thompson et al., MOLECULAR-BASIS FOR VARIABLE CLINICAL EXPRESSION OF WISKOTT-ALDRICH SYNDROME, British Journal of Haematology, 101, 1998, pp. 169-169
EVIDENCE FOR FOUNDER EFFECT OF THE GLU104ASP SUBSTITUTION AND IDENTIFICATION OF NEW MUTATIONS IN TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
Authors: ARYA R LALLOZ MRA BELLINGHAM AJ LAYTON DM
Citation: R. Arya et al., EVIDENCE FOR FOUNDER EFFECT OF THE GLU104ASP SUBSTITUTION AND IDENTIFICATION OF NEW MUTATIONS IN TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, Human mutation, 10(4), 1997, pp. 290-294
FACTOR-VIII GENE-MUTATIONS FOUND BY A COMPARATIVE-STUDY OF SSCP, DGGEAND CMC AND THEIR ANALYSIS ON A MOLECULAR-MODEL OF FACTOR-VIII PROTEIN
Authors: SCHWAAB R OLDENBURG J LALLOZ MRA SCHWAAB U PEMBERTON S HANFLAND P BRACKMANN HH TUDDENHAM EGD MICHAELIDES K
Citation: R. Schwaab et al., FACTOR-VIII GENE-MUTATIONS FOUND BY A COMPARATIVE-STUDY OF SSCP, DGGEAND CMC AND THEIR ANALYSIS ON A MOLECULAR-MODEL OF FACTOR-VIII PROTEIN, Human genetics, 101(3), 1997, pp. 323-332
PREDOMINANCE OF THE HLA-H CYS282TYR MUTATION IN AUSTRIAN PATIENTS WITH GENETIC HEMOCHROMATOSIS
Authors: DATZ C LALLOZ MRA VOGEL W GRAZIADEI I HACKL F VAUTIER G LAYTON DM MAIERDOBERSBERGER T FERENCI P PENNER E SANDHOFER F BOMFORD A PAULWEBER B
Citation: C. Datz et al., PREDOMINANCE OF THE HLA-H CYS282TYR MUTATION IN AUSTRIAN PATIENTS WITH GENETIC HEMOCHROMATOSIS, Journal of hepatology, 27(5), 1997, pp. 773-779
HOMOZYGOSITY FOR THE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE 677 C-]T-MUTATIONS IS A MORE COMMON-CAUSE OF THE BUDD-CHIARI-SYNDROME THAN THE FACTOR-V-LEIDEN Q506-ALLELE
Authors: DEVLIN J LALLOZ MRA ERTEN S VARNAVIDES LA DONALDSON P LAYTON DM
Citation: J. Devlin et al., HOMOZYGOSITY FOR THE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE 677 C-]T-MUTATIONS IS A MORE COMMON-CAUSE OF THE BUDD-CHIARI-SYNDROME THAN THE FACTOR-V-LEIDEN Q506-ALLELE, Gastroenterology, 112(4), 1997, pp. 1256-1256
DISSECTING THE GENETIC-CONTROL OF FETAL HEMOGLOBIN IN SICKLE-CELL-ANEMIA
Authors: OFORIACQUAH SF LALLOZ MRA ERTEN S GREEN BN WILD BW SERJEANT GR LAYTON DM
Citation: Sf. Oforiacquah et al., DISSECTING THE GENETIC-CONTROL OF FETAL HEMOGLOBIN IN SICKLE-CELL-ANEMIA, Blood, 90(10), 1997, pp. 1967-1967
MOLECULAR-BASIS OF TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
Authors: LAYTON M ARYA R LALLOZ MRA BELLINGHAM AJ
Citation: M. Layton et al., MOLECULAR-BASIS OF TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, Quarterly Journal of Medicine, 89(11), 1996, pp. 870-870
FAMILY STUDIES IN WISKOTT-ALDRICH SYNDROME BY ANALYSIS OF A LINKED POLYMORPHIC MARKER AT LOCUS DXS6940
Authors: THOMPSON LJ LALLOZ MRA LAYTON DM
Citation: Lj. Thompson et al., FAMILY STUDIES IN WISKOTT-ALDRICH SYNDROME BY ANALYSIS OF A LINKED POLYMORPHIC MARKER AT LOCUS DXS6940, British Journal of Haematology, 93, 1996, pp. 31-31
HOMOZYGOSITY FOR THE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE-677 C-]T MUTATION IN BUDD-CHIARI SYNDROME
Authors: LALLOZ MRA DEVLIN J ERTEN S VARNAVIDES LA DONALDSON P WILLIAMS R LAYTON DM
Citation: Mra. Lalloz et al., HOMOZYGOSITY FOR THE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE-677 C-]T MUTATION IN BUDD-CHIARI SYNDROME, British Journal of Haematology, 93, 1996, pp. 111-111
EVIDENCE FOR FOUNDER EFFECT IN TRIOSEPHOSPHATE ISOMERASE DEFICIENCY DUE TO GLU104ASP MUTATION
Authors: ARYA R LALLOZ MRA BELLINGHAM AJ LAYTON DM
Citation: R. Arya et al., EVIDENCE FOR FOUNDER EFFECT IN TRIOSEPHOSPHATE ISOMERASE DEFICIENCY DUE TO GLU104ASP MUTATION, British Journal of Haematology, 93, 1996, pp. 195-195
DEVELOPMENTAL STAGE-SPECIFIC EXPRESSION OF GLOBIN GENES IN ERYTHROID-CELLS DERIVED FROM THE EXTRAEMBRYONIC COELOM
Authors: OFORIACQUAH SF ROSS J JURKOVIC D LALLOZ MRA CAMPBELL S LAYTON DM
Citation: Sf. Oforiacquah et al., DEVELOPMENTAL STAGE-SPECIFIC EXPRESSION OF GLOBIN GENES IN ERYTHROID-CELLS DERIVED FROM THE EXTRAEMBRYONIC COELOM, British Journal of Haematology, 93, 1996, pp. 197-197
EFFECT OF HISTONE DEACETYLASE INHIBITOR TRICHOSTATIN-A ON GAMMA-GLOBIN GENE-EXPRESSION TN K562 CELLS
Authors: OFORIACQUAH SF LALLOZ MRA LAYTON DM
Citation: Sf. Oforiacquah et al., EFFECT OF HISTONE DEACETYLASE INHIBITOR TRICHOSTATIN-A ON GAMMA-GLOBIN GENE-EXPRESSION TN K562 CELLS, British Journal of Haematology, 93, 1996, pp. 335-335
STRUCTURAL-ANALYSIS OF HUMAN TRIOSEPHOSPHATE ISOMERASE (TPI) MUTANTS
Authors: ARYA R RINGE D LALLOZ MRA BELLINGHAM AJ LAYTON DM
Citation: R. Arya et al., STRUCTURAL-ANALYSIS OF HUMAN TRIOSEPHOSPHATE ISOMERASE (TPI) MUTANTS, Blood, 88(10), 1996, pp. 1209-1209
LOCALIZATION OF CIS-ACTIVE DETERMINANTS OF FETAL HEMOGLOBIN LEVEL IN SICKLE-CELL-ANEMIA
Authors: OFORIACQUAH SF LALLOZ MRA LAYTON DM
Citation: Sf. Oforiacquah et al., LOCALIZATION OF CIS-ACTIVE DETERMINANTS OF FETAL HEMOGLOBIN LEVEL IN SICKLE-CELL-ANEMIA, Blood, 88(10), 1996, pp. 1960-1960
MOLECULAR DIAGNOSIS OF WISKOTT-ALDRICH SYNDROME IN NORTHERN EUROPEAN KINDREDS
Authors: THOMPSON LJ LALLOZ MRA LAYTON DM
Citation: Lj. Thompson et al., MOLECULAR DIAGNOSIS OF WISKOTT-ALDRICH SYNDROME IN NORTHERN EUROPEAN KINDREDS, Blood, 88(10), 1996, pp. 2003-2003
PRENATAL-DIAGNOSIS OF TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
Authors: ARYA R LALLOZ MRA NICOLAIDES KH BELLINGHAM AJ LAYTON DM
Citation: R. Arya et al., PRENATAL-DIAGNOSIS OF TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, Blood, 87(11), 1996, pp. 4507-4509
PRENATAL-DIAGNOSIS OF HEMOPHILIA-A BY ANALYSIS OF FACTOR-VIII INTRON-22 INVERSIONS
Authors: MITCHELL MJ HAYES J LALLOZ MRA LAYTON DM
Citation: Mj. Mitchell et al., PRENATAL-DIAGNOSIS OF HEMOPHILIA-A BY ANALYSIS OF FACTOR-VIII INTRON-22 INVERSIONS, Journal of Medical Genetics, 32(2), 1995, pp. 152-152
MOLECULAR PATHOLOGY OF HUMAN TRIOSEPHOSPHATE ISOMERASE
Authors: ARYA R LALLOZ MRA BELLINGHAM AJ LAYTON DM
Citation: R. Arya et al., MOLECULAR PATHOLOGY OF HUMAN TRIOSEPHOSPHATE ISOMERASE, Blood, 86(10), 1995, pp. 2328-2328
HEMOPHILIA-A DIAGNOSIS BY AUTOMATED FLUORESCENT DNA DETECTION OF 10 FACTOR-VIII INTRON-13 DINUCLEOTIDE REPEAT ALLELES
Authors: KOCHHAN L LALLOZ MRA OLDENBURG J MCVEY JH OLEK K BRACKMANN HH TUDDENHAM EGD SCHWAAB R
Citation: L. Kochhan et al., HEMOPHILIA-A DIAGNOSIS BY AUTOMATED FLUORESCENT DNA DETECTION OF 10 FACTOR-VIII INTRON-13 DINUCLEOTIDE REPEAT ALLELES, Blood coagulation & fibrinolysis, 5(4), 1994, pp. 497-501
Risultati: 1-25 | 26-29