Citation: Maw. Umanseckenhausen et al., FAMILIAR HYPERCHOLESTEROLEMIA - THE LIMITED PREDICTIVE VALUE OF PLASMA LDL-CHOLESTEROL, Journal of the American College of Cardiology, 31(2), 1998, pp. 148-149
Authors:
UMANSECKENHAUSEN MAW
DEFESCHE JC
CLINE F
KASTELEIN JJP
Citation: Maw. Umanseckenhausen et al., A NATIONAL SCREENING-PROGRAM FOR THE IDENTIFICATION OF PERSONS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN THE NETHERLANDS, Journal of the American College of Cardiology, 31(2), 1998, pp. 303-303
Authors:
WITTEKOEK ME
PIMSTONE SN
REYMER PWA
FEUTH L
BOTMA GJ
DEFESCHE JC
PRINS M
HAYDEN MR
KASTELEIN JJP
Citation: Me. Wittekoek et al., A COMMON MUTATION IN THE LIPOPROTEIN-LIPASE GENE (N291S) ALTERS THE LIPOPROTEIN PHENOTYPE AND RISK FOR CARDIOVASCULAR-DISEASE IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA, Circulation, 97(8), 1998, pp. 729-735
Authors:
PIMSTONE SN
DEFESCHE JC
CLEE SM
BAKKER HD
HAYDEN MR
KASTELEIN JJP
Citation: Sn. Pimstone et al., DIFFERENCES IN THE PHENOTYPE BETWEEN CHILDREN WITH FAMILIAL DEFECTIVEAPOLIPOPROTEIN B-100 AND FAMILIAL HYPERCHOLESTEROLEMIA, Arteriosclerosis, thrombosis, and vascular biology, 17(5), 1997, pp. 826-833
Authors:
HANSEN PS
DEFESCHE JC
KASTELEIN JJP
GERDES LU
FRAZA L
GERDES C
TATO F
JENSEN HK
JENSEN LG
KLAUSEN IC
FAERGEMAN O
SCHUSTER H
Citation: Ps. Hansen et al., PHENOTYPIC VARIATION IN PATIENTS HETEROZYGOUS FOR FAMILIAL DEFECTIVE APOLIPOPROTEIN-B (FDB) IN 3 EUROPEAN COUNTRIES, Arteriosclerosis, thrombosis, and vascular biology, 17(4), 1997, pp. 741-747
Authors:
VANDERHOEK YY
LINGENHEL A
KRAFT HG
DEFESCHE JC
KASTELEIN JJP
UTERMANN G
Citation: Yy. Vanderhoek et al., SIB-PAIR ANALYSIS DETECTS ELEVATED LP(A) LEVELS AND LARGE VARIATION OF LP(A) CONCENTRATION IN SUBJECTS WITH FAMILIAR DEFECTIVE APO-B, The Journal of clinical investigation, 99(9), 1997, pp. 2269-2273
Authors:
HAYDEN MR
GAGNE SE
LARSON MG
WITTEKOEK ME
PIMSTONE SN
SCHAEFER EJ
DEFESCHE JC
WILSON PWF
KASTELEIN JJP
ORDOVAS JM
Citation: Mr. Hayden et al., COMMON MUTATIONS IN THE LIPOPROTEIN-LIPASE GENE INFLUENCE PLASMA-LIPIDS AND PREVALENCE OF CORONARY HEART-DISEASE, Atherosclerosis, 134(1-2), 1997, pp. 12-12
Citation: Mp. Lombardi et al., NOVEL MUTATIONS IN THE LDL RECEPTOR GENE OF DUTCH FAMILIAR HYPERCHOLESTEROLEMIC PATIENTS, Atherosclerosis, 130, 1997, pp. 51-51
Authors:
REDEKER E
DEFESCHE JC
LOMBARDI P
KASTELEIN JJP
MANNENS M
Citation: E. Redeker et al., FREQUENCY AND GEOGRAPHICAL-DISTRIBUTION OF FAMILIAL HYPERCHOLESTEROLEMIA CAUSING MUTATIONS IN THE NETHERLANDS, Atherosclerosis, 130, 1997, pp. 121-121
Authors:
WITTEKOEK ME
DEFESCHE JC
FEUTH L
BOTMA GJ
REYMER PWA
KASTELEIN JJP
Citation: Me. Wittekoek et al., THE ASN201-]SER MUTATION IN THE LIPOPROTEIN-LIPASE GENE INCREASES THECARDIOVASCULAR RISK IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA, Atherosclerosis, 129(1), 1997, pp. 7-7
Citation: Jc. Defesche et Jjp. Kastelein, IDENTIFICATION OF PATIENTS WITH INHERITED HYPERCHOLESTEROLEMIA - A NEW PARADIGM FOR THE TRACING OF DOMINANT GENETIC-DISORDERS, Atherosclerosis, 129(1), 1997, pp. 43-43
Citation: P. Lombardi et al., A NOVEL MUTATION M-21V IN EXON-1 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE CAUSING FAMILIAL HYPERCHOLESTEROLEMIA, Clinical genetics, 51(6), 1997, pp. 430-431
Citation: P. Lombardi et al., A NOVEL V415A MUTATION IN EXON-9 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE CAUSING FAMILIAL HYPERCHOLESTEROLEMIA, Clinical genetics, 51(4), 1997, pp. 286-287
Citation: P. Lombardi et al., IDENTIFICATION OF A DOUBLE MUTATION IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE CAUSING FAMILIAL HYPERCHOLESTEROLEMIA, Clinical genetics, 50(6), 1996, pp. 525-526
Authors:
PIMSTONE SN
GAGNE SE
GAGNE C
LUPIEN PJ
GAUDET D
WILLIAMS RR
KOTZE M
REYMER PWA
DEFESCHE JC
KASTELEIN JJP
MOORJANI S
HAYDEN MR
Citation: Sn. Pimstone et al., MUTATIONS IN THE GENE FOR LIPOPROTEIN-LIPASE - A CAUSE FOR LOW HDL CHOLESTEROL LEVELS IN INDIVIDUALS HETEROZYGOUS FOR FAMILIAL HYPERCHOLESTEROLEMIA, Arteriosclerosis, thrombosis, and vascular biology, 15(10), 1995, pp. 1704-1712
Authors:
WIJKER M
LIGTENBERG MJL
SCHOUTE F
DEFESCHE JC
PALS G
BOLHUIS PA
ROPERS HH
HULSEBOS TJM
MENKO FH
VANOOST BA
LUNGAROTTI MS
ARWERT F
Citation: M. Wijker et al., THE GENE FOR HEREDITARY BULLOUS DYSTROPHY, X-LINKED MACULAR TYPE, MAPS TO THE XQ27.3-QTER REGION, American journal of human genetics, 56(5), 1995, pp. 1096-1100
Citation: Afh. Stalenhoef et al., DECREASED RESISTANCE AGAINST IN-VITRO OXIDATION OF LDL FROM PATIENTS WITH FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100, Arteriosclerosis and thrombosis, 14(3), 1994, pp. 489-493
Citation: Jc. Defesche et al., SOUTH-AFRICAN FOUNDER MUTATIONS IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE CAUSING FAMILIAL HYPERCHOLESTEROLEMIA IN THE DUTCH POPULATION, Human genetics, 92(6), 1993, pp. 567-570
Citation: Jc. Defesche et al., FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100 IS CLINICALLY INDISTINGUISHABLE FROM FAMILIAL HYPERCHOLESTEROLEMIA, Archives of internal medicine, 153(20), 1993, pp. 2349-2356