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Results: 1-17 |
Results: 17
IDENTIFICATION OF 4 NOVEL MUTATIONS IN SEVERE METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY
Authors: KLUIJTMANS LAJ WENDEL U STEVENS EMB VANDENHEUVEL LPWJ TRIJBELS FJM BLOM HJ
Citation: Laj. Kluijtmans et al., IDENTIFICATION OF 4 NOVEL MUTATIONS IN SEVERE METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY, European journal of human genetics, 6(3), 1998, pp. 257-265
THERMOLABILE METHYLENETETRAHYDROFOLATE REDUCTASE AND FACTOR-V-LEIDEN IN THE RISK OF DEEP-VEIN THROMBOSIS
Authors: KLUIJTMANS LAJ DENHEIJER M REITSMA PH HEIL SG BLOM HJ ROSENDAAL FR
Citation: Laj. Kluijtmans et al., THERMOLABILE METHYLENETETRAHYDROFOLATE REDUCTASE AND FACTOR-V-LEIDEN IN THE RISK OF DEEP-VEIN THROMBOSIS, Thrombosis and haemostasis, 79(2), 1998, pp. 254-258
DETECTION OF A NOVEL DELETION IN THE CYSTATHIONINE BETA-SYNTHASE (CBS) GENE USING AN IMPROVED GENOMIC DNA-BASED METHOD
Authors: GAUSTADNES M KLUIJTMANS LAJ JENSEN OK RASMUSSEN K HEIL SG KRAUS JP BLOM HJ INGERSLEV J RUDIGER N
Citation: M. Gaustadnes et al., DETECTION OF A NOVEL DELETION IN THE CYSTATHIONINE BETA-SYNTHASE (CBS) GENE USING AN IMPROVED GENOMIC DNA-BASED METHOD, FEBS letters, 431(2), 1998, pp. 175-179
HOMOZYGOUS CYSTATHIONINE BETA-SYNTHASE DEFICIENCY, COMBINED WITH FACTOR-V-LEIDEN OR THERMOLABILE METHYLENETETRAHYDROFOLATE REDUCTASE IN THERISK OF VENOUS THROMBOSIS
Authors: KLUIJTMANS LAJ BOERS GHJ VERBRUGGEN B TRIJBELS FJM NOVAKOVA IRO BLOM HJ
Citation: Laj. Kluijtmans et al., HOMOZYGOUS CYSTATHIONINE BETA-SYNTHASE DEFICIENCY, COMBINED WITH FACTOR-V-LEIDEN OR THERMOLABILE METHYLENETETRAHYDROFOLATE REDUCTASE IN THERISK OF VENOUS THROMBOSIS, Blood, 91(6), 1998, pp. 2015-2018
SEQUENCE-ANALYSIS OF THE CODING REGION OF HUMAN METHIONINE SYNTHASE -RELEVANCE TO HYPERHOMOCYSTEINAEMIA IN NEURAL-TUBE DEFECTS AND VASCULAR-DISEASE
Authors: VANDERPUT NMJ VANDERMOLEN EF KLUIJTMANS LAJ HEIL SG TRIJBELS JMF ESKES TKAB VANOPPENRAAIJEMMERZAAL D BANERJEE R BLOM HJ
Citation: Nmj. Vanderput et al., SEQUENCE-ANALYSIS OF THE CODING REGION OF HUMAN METHIONINE SYNTHASE -RELEVANCE TO HYPERHOMOCYSTEINAEMIA IN NEURAL-TUBE DEFECTS AND VASCULAR-DISEASE, Quarterly Journal of Medicine, 90(8), 1997, pp. 511-517
A COMMON 844INS68 INSERTION VARIANT IN THE CYSTATHIONINE BETA-SYNTHASE GENE
Authors: KLUIJTMANS LAJ BOERS GHJ TRIJBELS FJM VANLITHZANDERS HMA VANDENHEUVEL LPWJ BLOM HJ
Citation: Laj. Kluijtmans et al., A COMMON 844INS68 INSERTION VARIANT IN THE CYSTATHIONINE BETA-SYNTHASE GENE, Biochemical and molecular medicine, 62(1), 1997, pp. 23-25
MTHFR VARIANT (THERMOLABILE METHYLENETETRA-HYDROFOLATEREDUCTASE), FACTOR-V-LEIDEN, AND THE RISK OF DEEP-VENOUS THROMBOSIS
Authors: ROSENDAAL FR KLUIJTMANS LAJ DENHEIJER M HEIL SG REITSMA PH BLOM HJ
Citation: Fr. Rosendaal et al., MTHFR VARIANT (THERMOLABILE METHYLENETETRA-HYDROFOLATEREDUCTASE), FACTOR-V-LEIDEN, AND THE RISK OF DEEP-VENOUS THROMBOSIS, Thrombosis and haemostasis, 1997, pp. 2327-2327
A COMMON MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE - ASSOCIATIONS WITH HOMOCYSTEINE AND RISK OF CORONARY ATHEROSCLEROSIS
Authors: VERHOEF P KOK FJ KLUIJTMANS LAJ BLOM HJ REFSUM H UELAND PM KRUYSSEN HACM
Citation: P. Verhoef et al., A COMMON MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE - ASSOCIATIONS WITH HOMOCYSTEINE AND RISK OF CORONARY ATHEROSCLEROSIS, Atherosclerosis, 134(1-2), 1997, pp. 171-171
THE 677C-]T MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE - ASSOCIATIONS WITH PLASMA TOTAL HOMOCYSTEINE LEVELS AND RISK OF CORONARY ATHEROSCLEROTIC DISEASE
Authors: VERHOEF P KOK FJ KLUIJTMANS LAJ BLOM HJ REFSUM H UELAND PM KRUYSSEN DACM
Citation: P. Verhoef et al., THE 677C-]T MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE - ASSOCIATIONS WITH PLASMA TOTAL HOMOCYSTEINE LEVELS AND RISK OF CORONARY ATHEROSCLEROTIC DISEASE, Atherosclerosis, 132(1), 1997, pp. 105-113
C677T MUTATION OF METHYLENETETRAHYDROFOLATE REDUCTASE GENE DETERMINEDIN BLOOD OR PLASMA BY MULTIPLE-INJECTION CAPILLARY ELECTROPHORESIS AND LASER-INDUCED FLUORESCENCE DETECTION
Authors: ULVIK A REFSUM H KLUIJTMANS LAJ UELAND PM
Citation: A. Ulvik et al., C677T MUTATION OF METHYLENETETRAHYDROFOLATE REDUCTASE GENE DETERMINEDIN BLOOD OR PLASMA BY MULTIPLE-INJECTION CAPILLARY ELECTROPHORESIS AND LASER-INDUCED FLUORESCENCE DETECTION, Clinical chemistry, 43(2), 1997, pp. 267-272
THERMOLABILE METHYLENETETRAHYDROFOLATE REDUCTASE IN CORONARY-ARTERY DISEASE
Authors: KLUIJTMANS LAJ KASTELEIN JJP LINDEMANS J BOERS GHJ HEIL SG BRUSCHKE AVG JUKEMA JW VANDENHEUVEL LPWJ TRIJBELS FJM BOERMA GJM VERHEUGT FWA WILLEMS F BLOM HJ
Citation: Laj. Kluijtmans et al., THERMOLABILE METHYLENETETRAHYDROFOLATE REDUCTASE IN CORONARY-ARTERY DISEASE, Circulation, 96(8), 1997, pp. 2573-2577
THERMOLABILE METHYLENETETRAHYDROFOLATE REDUCTASE AND FACTOR-V-LEIDEN IN THE RISK OF DEEP-VEIN THROMBOSIS
Authors: KLUIJTMANS LAJ DENHEIJER M REITSMA PH HEIL SG ROSENDAAL FR BLOM HJ
Citation: Laj. Kluijtmans et al., THERMOLABILE METHYLENETETRAHYDROFOLATE REDUCTASE AND FACTOR-V-LEIDEN IN THE RISK OF DEEP-VEIN THROMBOSIS, American journal of human genetics, 61(4), 1997, pp. 1174-1174
DEFECTIVE CYSTATHIONINE BETA-SYNTHASE REGULATION BY S-ADENOSYLMETHIONINE IN A PARTIALLY PYRIDOXINE RESPONSIVE HOMOCYSTINURIA PATIENT
Authors: KLUIJTMANS LAJ BOERS GHJ STEVENS EMB RENIER WO KRAUS JP TRIJBELS FJM VANDENHEUVEL LPWJ BLOM HJ
Citation: Laj. Kluijtmans et al., DEFECTIVE CYSTATHIONINE BETA-SYNTHASE REGULATION BY S-ADENOSYLMETHIONINE IN A PARTIALLY PYRIDOXINE RESPONSIVE HOMOCYSTINURIA PATIENT, The Journal of clinical investigation, 98(2), 1996, pp. 285-289
MOLECULAR-GENETIC ANALYSIS IN MILD HYPERHOMOCYSTEINEMIA - A COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE IS A GENETIC RISK FACTOR FOR CARDIOVASCULAR-DISEASE
Authors: KLUIJTMANS LAJ VANDENHEUVEL LPWJ BOERS GHJ FROSST P STEVENS EMB VANOOST BA DENHEIJER M TRIJBELS FJM ROZEN R BLOM HJ
Citation: Laj. Kluijtmans et al., MOLECULAR-GENETIC ANALYSIS IN MILD HYPERHOMOCYSTEINEMIA - A COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE IS A GENETIC RISK FACTOR FOR CARDIOVASCULAR-DISEASE, American journal of human genetics, 58(1), 1996, pp. 35-41
A CANDIDATE GENETIC RISK FACTOR FOR VASCULAR-DISEASE - A COMMON MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE
Authors: FROSST P BLOM HJ MILOS R GOYETTE P SHEPPARD CA MATTHEWS RG BOERS GJH DENHEIJER M KLUIJTMANS LAJ VANDENHEUVEL LP ROZEN R
Citation: P. Frosst et al., A CANDIDATE GENETIC RISK FACTOR FOR VASCULAR-DISEASE - A COMMON MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE, Nature genetics, 10(1), 1995, pp. 111-113
2 NOVEL MISSENSE MUTATIONS IN THE CYSTATHIONINE BETA-SYNTHASE GENE INHOMOCYSTINURIC PATIENTS
Authors: KLUIJTMANS LAJ BLOM HJ BOERS GHJ VANOOST BA TRIJBELS FJM VANDENHEUVEL LPWJ
Citation: Laj. Kluijtmans et al., 2 NOVEL MISSENSE MUTATIONS IN THE CYSTATHIONINE BETA-SYNTHASE GENE INHOMOCYSTINURIC PATIENTS, Human genetics, 96(2), 1995, pp. 249-250
ABERRANT SPLICING OF THE COL4A5 GENE IN PATIENTS WITH ALPORT SYNDROME
Authors: LEMMINK HH KLUIJTMANS LAJ BRUNNER HG SCHRODER CH KNEBELMANN B JELINKOVA E VANOOST BA MONNENS LAH SMEETS HJM
Citation: Hh. Lemmink et al., ABERRANT SPLICING OF THE COL4A5 GENE IN PATIENTS WITH ALPORT SYNDROME, Human molecular genetics, 3(2), 1994, pp. 317-322
Risultati: 1-17 |