J.C. Defesche: search on Z-Library

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51

A large-scale, family-based, screening project to identify persons with familial hypercholesterolemia (FH), with the aid of molecular diagnostics

J.C. Defesche, J.J.P. Kastelein

Journal:

Atherosclerosis

Year:

1994

Language:

english

File:

PDF, 158 KB

english, 1994

52

Familial defective apolipoprotein B (FDB): lipoprotein metabolism in childhood

E.M.J. Trum, L.W.L. Fraza, H.D. Bakker, S.C. Defesche, J.J.P. Kastelein

Journal:

Atherosclerosis

Year:

1994

Language:

english

File:

PDF, 158 KB

english, 1994

53

The apo B 3500 mutation is very rare in 800 male patients with CHD (REGRESS) in The Netherlands

L.W.L. Fraza, K.A. Ankone, K.I. Lie, P.W.A. Reymer, B.E. Groenemeijer, J.C. Defesche, J.J.P. Kastelein

Journal:

Atherosclerosis

Year:

1994

Language:

english

File:

PDF, 309 KB

english, 1994

54

Environmental modulation of an identical genotypic defect (Val408 → Met) in FH patients from a single family living in different countries

D.E. Van Diermen, W.L.F. Bedaux, J.C. Defesche, J.J.P. Kastelein, M.R. Hayden

Journal:

Atherosclerosis

Year:

1994

Language:

english

File:

PDF, 158 KB

english, 1994

55

National screening and registration program for persons with Familial Hypercholesterolemia (FH)

J.C. Defesche, P.J. Lansberg, J.J.P. Kastelein

Journal:

Atherosclerosis

Year:

1995

Language:

english

File:

PDF, 111 KB

english, 1995

56

Mutations in the LDL receptor gene causing mRNA deficienty in heterozygous familial hypercholesterolemia

P. Lombardi, E. Sijbrands, J. Defesche, J. Kastelein, R.R. Frants, L.M. Havekes

Journal:

Atherosclerosis

Year:

1995

Language:

english

File:

PDF, 104 KB

english, 1995

57

Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent–offspring study

Kristel C.M.C. Koeijvoets, Albert Wiegman, Jessica Rodenburg, Joep C. Defesche, John J.P. Kastelein, Eric J.G. Sijbrands

Journal:

Atherosclerosis

Year:

2005

Language:

english

File:

PDF, 125 KB

english, 2005

58

The discrete and combined effect of SREBP-2 and SCAP isoforms in the control of plasma lipids among familial hypercholesterolaemia patients

R. Durst, A. Jansen, G. Erez, R. Bravdo, E. Butbul, L. Ben Avi, S. Shpitzen, C. Lotan, E. Leitersdorf, J. Defesche, Y. Friedlander, V. Meiner, A.R. Miserez

Journal:

Atherosclerosis

Year:

2006

Language:

english

File:

PDF, 149 KB

english, 2006

59

Arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene and coronary heart disease risk in familial hypercholesterolemia

Jeroen B. van der Net, Jorie Versmissen, Daniëlla M. Oosterveer, Joep C. Defesche, Mojgan Yazdanpanah, Bradley E. Aouizerat, Ewout W. Steyerberg, Mary J. Malloy, Clive R. Pullinger, John P. Kane, John

Journal:

Atherosclerosis

Year:

2009

Language:

english

File:

PDF, 341 KB

english, 2009

60

5-Lipoxygenase activating protein (ALOX5AP) gene variants associate with the presence of xanthomas in familial hypercholesterolemia

Daniëlla M. Oosterveer, Jorie Versmissen, Mojgan Yazdanpanah, Jeroen B. van der Net, Joep C. Defesche, John J.P. Kastelein, Eric J.G. Sijbrands

Journal:

Atherosclerosis

Year:

2009

Language:

english

File:

PDF, 215 KB

english, 2009

61

Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase

A.G. Holleboom, J.A. Kuivenhoven, C.C. van Olden, J. Peter, A.W. Schimmel, J.H. Levels, R.M. Valentijn, P. Vos, J.C. Defesche, J.J.P. Kastelein, G.K. Hovingh, E.S.G. Stroes, C.E.M. Hollak

Journal:

Atherosclerosis

Year:

2011

Language:

english

File:

PDF, 371 KB

english, 2011

62

Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin

Arash Alipour, Manuel Castro Cabezas, Jan Willem F. Elte, Joan-Carles Vallvé, Josep Ribalta, Aeilko H. Zwinderman, Joep C. Defesche, J. Wouter Jukema

Journal:

Atherosclerosis

Year:

2011

Language:

english

File:

PDF, 166 KB

english, 2011

63

Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality

Jorie Versmissen, Ilse P.G. Botden, Roeland Huijgen, Daniëlla M. Oosterveer, Joep C. Defesche, Thea C. Heil, Anouk Muntz, Janneke G. Langendonk, Arend F.L. Schinkel, John J.P. Kastelein, Eric J.G. Sij

Journal:

Atherosclerosis

Year:

2011

Language:

english

File:

PDF, 147 KB

english, 2011

64

HT03-IS-002 Familial hypercholesterolemia in children

Defesche, J.C., Rodenburg, J., de Jongh, S., Kastelein, J.J.P., Wiegman, A.

Journal:

Atherosclerosis Supplements

Year:

2005

Language:

english

File:

PDF, 142 KB

english, 2005

65

Mo-W5:1 Is molecular genetic testing for familial hypercholesterolemia cost effective and clinically useful?

Journal:

Atherosclerosis Supplements

Year:

2006

Language:

english

File:

PDF, 157 KB

english, 2006

66

Mo-P6:421 Genetic variants in the angiopoietin-like 4 gene of hypertriglyceridemic patients

Fouchier, S.W., Moen, C.J.A., Willems Van Dijk, K., Defesche, J.C., Frants, R.R.

Journal:

Atherosclerosis Supplements

Year:

2006

Language:

english

File:

PDF, 146 KB

english, 2006

67

Abstract: 526 GENETICS OF LDL: STATE-OF-THE-ART

Journal:

Atherosclerosis Supplements

Year:

2009

Language:

english

File:

PDF, 73 KB

english, 2009

68

Abstract: 48 PHENOTYPE AND GENOTYPE OF FAMILIAL HYPERCHOLESTEROLEMIA IN OVER 2000 CHILDREN

van der Graaf, A, Avis, H, Vissers, M, Hutten, B, Defesche, J, Wiegman, A, Fouchier, S, Kastelein, J

Journal:

Atherosclerosis Supplements

Year:

2009

Language:

english

File:

PDF, 80 KB

english, 2009

69

Abstract: 531 A UNIQUE TOOL TO DETECT LDLR, APOB AND PCSK9 POINT MUTATIONS AS WELL AS COPY NUMBER CHANGE IN THE LDLR GENE

Stef, M, Palacios, L, Viegas, M, Tejedor, D, Martinez, A, Pocovi, M, Defesche, J

Journal:

Atherosclerosis Supplements

Year:

2009

Language:

english

File:

PDF, 79 KB

english, 2009

70

Abstract: P365 LOSS OF DISULFIDE BOND IN LECITHIN:CHOLESTEROL ACYL TRANSFERASE DUE TO A CYS313—>TYR MUTATION CAUSES FAMILIAL LCAT DEFICIENCY IN A PATIENT OF MOROCCAN DESCENT

Holleboom, A, Stroes, E, Kastelein, J, Defesche, J, Kuivenhoven, J, Hollak, C

Journal:

Atherosclerosis Supplements

Year:

2009

Language:

english

File:

PDF, 80 KB

english, 2009

71

Abstract: P870 IDENTIFICATION OF APOB AND PCSK9 MUTATIONS CAUSING A NON-ADH PHENOTYPE IN MOLECULAR DIAGNOSED ADH PATIENTS

Fouchier, S, Huijgen, R, Vis, K, Defesche, J, Kastelein, J

Journal:

Atherosclerosis Supplements

Year:

2009

Language:

english

File:

PDF, 76 KB

english, 2009

72

66 THE MOLECULAR BASIS OF AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA: ASSESSMENT IN A LARGE COHORT OF HYPERCHOLESTEROLEMIC CHILDREN

van der Graaf, A., Avis, H.J., Kusters, D.M., Vissers, M.N., Hutten, B.A., Defesche, J.C., Huijgen, R., Fouchier, S.W., Wijburg, F.A., Kastelein, J.J., Wiegman, A.

Journal:

Atherosclerosis Supplements

Year:

2011

Language:

english

File:

PDF, 42 KB

english, 2011

73

603 COMBINING EXOME SEQUENCING WITH EXCLUSION LINKAGE ANALYSIS AS A TOOL TO UNRAVEL THE MOLECULAR BASIS OF A COMMON GENETIC DISEASE

Motazacker, M.M., Huijgen, R., Peter, J., Defesche, J.C., Kastelein, J.J.R, Hovingh, G.K., Kathiresan, S., Zelcer, N., Fouchier, S.W.

Journal:

Atherosclerosis Supplements

Year:

2011

Language:

english

File:

PDF, 45 KB

english, 2011

74

What Promise Does PCSK9 Hold?

John J.P. Kastelein, Sigrid W. Fouchier, Joep C. Defesche

Journal:

Journal of the American College of Cardiology

Year:

2005

Language:

english

File:

PDF, 62 KB

english, 2005

75

Defining the challenges of FH Screening for familial hypercholesterolemia

Joep C. Defesche

Journal:

Journal of Clinical Lipidology

Year:

2010

Language:

english

File:

PDF, 130 KB

english, 2010

76

World Health Organisation Report on Familial Hypercholesterolemia

Journal:

Atherosclerosis

Year:

2001

Language:

english

File:

PDF, 26 KB

english, 2001

77

51 Novel mutations in the LDL receptor gene of Dutch familial hypercholesterolemic patients

M.Paola Lombardi, Joep C. Defesche, Sylvia W.A. Kamerling, Egbert Redeker, John J.P. Kastelein, Louis M. Havekes

Journal:

Atherosclerosis

Year:

1997

Language:

english

File:

PDF, 150 KB

english, 1997

78

121 Frequency and geographical distribution of familial hypercholesterolemia causing mutations in the Netherlands

E. Redeker, J.C. Defesche, P. Lombardi, J.J.P. Kastelein, M. Mannens

Journal:

Atherosclerosis

Year:

1997

Language:

english

File:

PDF, 115 KB

english, 1997

79

36 Heterogeneity of LDL receptor mutations in dutch familial hypercholesterolemic patients

Joep C. Defesche, M.Paola Lombardi, Sylvia W.A. Kamerling, Louis M. Havekes, John J.P. Kasteiein

Journal:

Atherosclerosis

Year:

1997

Language:

english

File:

PDF, 165 KB

english, 1997

80

1.W05.3 Common mutations in the lipoprotein lipase gene influence plasma lipids and prevalence of coronary heart disease

M.R. Hayden, S.E. Gagné, M.G. Larson, M.E. Wittekoek, S.N. Pimstone, E.J. Schaefer, J.C. Defesche, P.W.F. Wilson, J.J.P. Kastelein, J.M. Ordovas

Journal:

Atherosclerosis

Year:

1997

Language:

english

File:

PDF, 183 KB

english, 1997

81

2.W13.3 Familial hypercholesterolemia: Molecular genetics and clinical expression

Joep C. Defesche, Marianne E. Wittekoek, John J.P. Kastelein

Journal:

Atherosclerosis

Year:

1997

Language:

english

File:

PDF, 182 KB

english, 1997

82

Familial hypercholesterolemia. Acceptor splice site (G→C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-RHonduras-1 [LDL-R1061(−1) G→C]

Lu Yu, Elisabeth Heere-Ress, Betsie Boucher, Joep C. Defesche, John Kastelein, Marc-André Lavoie, Jacques Genest Jr

Journal:

Atherosclerosis

Year:

1999

Language:

english

File:

PDF, 257 KB

english, 1999

83

Familial hypercholesterolemia: the limited predictive value of plasma LDL-cholesterol

M.A.W. Umans-Eckenhausen, J.C. Defesche, J.J.P. Kastelein

Journal:

Journal of the American College of Cardiology

Year:

1998

File:

PDF, 382 KB

1998

84

Observational skills assessment score: reliability in measuring amount and quality of use of the affected hand in unilateral cerebral palsy

Speth, Lucianne, Janssen-Potten, Yvonne, Leffers, Pieter, Rameckers, Eugene, Defesche, Anke, Geers, Richard, Smeets, Rob, Vles, Hans

Journal:

Year:

2013

Language:

english

File:

PDF, 400 KB

english, 2013

85

Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants

Huijgen, R., Kindt, I., Defesche, J. C., Kastelein, J. J. P.

Journal:

European Heart Journal

Year:

2012

Language:

english

File:

PDF, 166 KB

english, 2012

86

Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation

Watts, Gerald F., Gidding, Samuel, Wierzbicki, Anthony S., Toth, Peter P., Alonso, Rodrigo, Brown, W. Virgil, Bruckert, Eric, Defesche, Joep, Lin, Khoo Kah, Livingston, Michael, Mata, Pedro, Parhofer,

Journal:

Journal of Clinical Lipidology

Year:

2014

Language:

english

File:

PDF, 574 KB

english, 2014

87

HOMOZYGOUS AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA IN THE NETHERLANDS: PREVALENCE, GENOTYPE-PHENOTYPE RELATIONSHIP AND CLINICAL OUTCOME

Sjouke, Barbara, Kusters, Dorothe, Kindt, Iris, Besseling, Joost, Defesche, Joep, Sijbrands, Eric, van Lennep, Jeanine Roeters, Stalenhoef, Anton, Wiegman, Albert, de Graaf, Jacqueline, Fouchier, Sigr

Journal:

Journal of the American College of Cardiology

Year:

2014

Language:

english

File:

PDF, 192 KB

english, 2014

88

A national screening program for the identification of persons with familial hypercholesterolemia in the Netherlands

Umans-Eckenhausen, M.A.W., Defesche, J.C., Cliné, F., Kastelein, J.J.P.

Journal:

Journal of the American College of Cardiology

Year:

1998

Language:

english

File:

PDF, 160 KB

english, 1998

89

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

Watts, Gerald F., Gidding, Samuel, Wierzbicki, Anthony S., Toth, Peter P., Alonso, Rodrigo, Brown, W. Virgil, Bruckert, Eric, Defesche, Joep, Lin, Khoo Kah, Livingston, Michael, Mata, Pedro, Parhofer,

Journal:

International Journal of Cardiology

Year:

2014

Language:

english

File:

PDF, 659 KB

english, 2014

90

OBITUARY.

Sharma, M., Jain, A., Musalhi, K.A., Harvey, D., Persaud, J., Mikhailidis, D.P., Defesche, J.C., Nair, D.R.

Journal:

Year:

1910

Language:

english

File:

PDF, 573 KB

english, 1910

91

Agenda

Sharma, M., Jain, A., Musalhi, K.A., Harvey, D., Persaud, J., Mikhailidis, D.P., Defesche, J.C., Nair, D.R.

Journal:

Archives des Maladies Professionnelles et de l'Environnement

Year:

2009

Language:

french

File:

PDF, 147 KB

french, 2009

92

Severe hypertriglyceridaemia revisited

Sharma, M., Jain, A., Musalhi, K.A., Harvey, D., Persaud, J., Mikhailidis, D.P., Defesche, J.C., Nair, D.R.

Journal:

Atherosclerosis

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

93

Lipoprotein(a) levels in subjects with familial defective apo B-100 (FDB)

Van der Hoek, Y.Y., Burger, A., Kraft, H.G., Fraza, L.W.L., Defesche, J.C., Kastelein, J.J.P., Utermann, G.

Journal:

Atherosclerosis

Year:

1994

Language:

english

File:

PDF, 155 KB

english, 1994

94

THE CASE OF SIMPSON v. WARREN.

Van der Hoek, Y.Y., Burger, A., Kraft, H.G., Fraza, L.W.L., Defesche, J.C., Kastelein, J.J.P., Utermann, G.

Journal:

Year:

1890

Language:

english

File:

PDF, 180 KB

english, 1890

95

CLINICAL SOCIETY OF LONDON.

Van der Hoek, Y.Y., Burger, A., Kraft, H.G., Fraza, L.W.L., Defesche, J.C., Kastelein, J.J.P., Utermann, G.

Journal:

Year:

1875

Language:

english

File:

PDF, 621 KB

english, 1875

96

Familial hypercholesterolemia: Factors affecting phenotypic expression

Defesche, JoepC., de Sauvage Nolting, Pernette, Kastelein, JohnJ.P.

Journal:

Atherosclerosis

Year:

2000

Language:

english

File:

PDF, 150 KB

english, 2000

97

Cerebral metastases from pulmonary and mammary carcinomas

Defesche, H.F.H.G.

Journal:

Clinical Neurology and Neurosurgery

Year:

1982

Language:

english

File:

PDF, 370 KB

english, 1982

98

Abstract: P841 NON-FUNCTIONALITY OF THREE LDL-R AND APOB GENE MUTATIONS THAT WERE ASSUMED TO CAUSE FAMILIAL HYPERCHOLESTEROLEMIA

Huijgen, R, Kindt, I, Fouchier, S, Defesche, J, Hutten, B, Kastelein, J, Vissers, M

Journal:

Atherosclerosis Supplements

Year:

2009

Language:

english

File:

PDF, 85 KB

english, 2009

99

Clinical Safety of Flurbiprofen

Brooks, Carter D., Linet, Otto I., Schellenberg, Diana, Turner, Lana F., Defesche, Charles L., Teoh, Kok-Wah, Johnson, Jian H., Assenzo, Joseph R.

Journal:

Journal of Clinical Pharmacology

Year:

1990

Language:

english

File:

PDF, 1.37 MB

english, 1990

100

Arm hand skilled performance in cerebral palsy: activity preferences and their movement components

Lemmens, Ryanne JM, Janssen-Potten, Yvonne JM, Timmermans, Annick AA, Defesche, Anke, Smeets, Rob JEM, Seelen, Henk AM

Journal:

Year:

2014

Language:

english

File:

PDF, 661 KB

english, 2014

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