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1

Familial hypercholesterolaemia

Defesche, Joep C., Gidding, Samuel S., Harada-Shiba, Mariko, Hegele, Robert A., Santos, Raul D., Wierzbicki, Anthony S.

Journal:

Nature Reviews Disease Primers

Year:

2017

Language:

english

File:

PDF, 4.44 MB

english, 2017

2

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

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

Journal:

Year:

2005

Language:

english

File:

PDF, 144 KB

english, 2005

3

Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

Santos, Raul D, Gidding, Samuel S, Hegele, Robert A, Cuchel, Marina A, Barter, Philip J, Watts, Gerald F, Baum, Seth J, Catapano, Alberico L, Chapman, M John, Defesche, Joep C, Folco, Emanuela, Freibe

Journal:

The Lancet Diabetes & Endocrinology

Year:

2016

Language:

english

File:

PDF, 316 KB

english, 2016

4

Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia

Roeland Huijgen, Iris Kindt, Sigrid W. Fouchier, Joep C. Defesche, Barbara A. Hutten, John J.P. Kastelein, Maud N. Vissers

Journal:

Year:

2010

Language:

english

File:

PDF, 152 KB

english, 2010

5

Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels

Roeland Huijgen, Barbara Sjouke, Kelly Vis, Janine S.E. de Randamie, Joep C. Defesche, John J.P. Kastelein, G. Kees Hovingh, Sigrid W. Fouchier

Journal:

Year:

2012

Language:

english

File:

PDF, 177 KB

english, 2012

6

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

Øystein L. Holla, Sigve Nakken, Morten Mattingsdal, Trine Ranheim, Knut Erik Berge, Joep C. Defesche, Trond P. Leren

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 596 KB

english, 2009

7

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

Nordestgaard, B. G., Chapman, M. J., Humphries, S. E., Ginsberg, H. N., Masana, L., Descamps, O. S., Wiklund, O., Hegele, R. A., Raal, F. J., Defesche, J. C., Wiegman, A., Santos, R. D., Watts, G. F.,

Journal:

European Heart Journal

Year:

2013

Language:

english

File:

PDF, 1.34 MB

english, 2013

8

High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations

Liyanage, Khemanganee E, Hooper, Amanda J, Defesche, Joep C, Burnett, John R, van Bockxmeer, Frank M

Journal:

Annals of Clinical Biochemistry

Year:

2008

Language:

english

File:

PDF, 772 KB

english, 2008

9

Double Heterozygous Autosomal Dominant Hypercholesterolemia: Clinical Characterization of An Underreported Disease

Sjouke, B., Defesche, J.C., Hartgers, M.L., Wiegman, A., Roeters van Lennep, J.E., Kastelein, J.J.P., Hovingh, G.K.

Journal:

Journal of Clinical Lipidology

Year:

2016

Language:

english

File:

PDF, 243 KB

english, 2016

10

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform

Rodrigo Alonso, Joep C. Defesche, Diego Tejedor, Sergio Castillo, Marianne Stef, Nelva Mata, Pilar Gomez-Enterria, Ceferino Martinez-Faedo, Lluis Forga, Pedro Mata

Journal:

Clinical Biochemistry

Year:

2009

Language:

english

File:

PDF, 201 KB

english, 2009

11

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands

M Paola Lombardi, Egbert Jw Redeker, Joep C Defesche, Sylvia Wa Kamerling, Mieke D Trip, Marcel Mam Mannens, Louis M Havekes, John Jp Kastelein

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 231 KB

english, 2000

12

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrentLDLRmutations

M. Chmara, B. Wasąg, M. Żuk, J. Kubalska, A. Węgrzyn, M. Bednarska-Makaruk, E. Pronicka, H. Wehr, J. C. Defesche, A. Rynkiewicz, J. Limon

Journal:

Journal of Applied Genetics

Year:

2010

Language:

english

File:

PDF, 115 KB

english, 2010

13

Longitudinal Evaluation and Assessment of Cardiovascular Disease in Patients With Homozygous Familial Hypercholesterolemia

Daniel M. Kolansky, Marina Cuchel, Bernard J. Clark, Steve Paridon, Brian W. McCrindle, Susan E. Wiegers, Luis Araujo, Yogesh Vohra, Joep C. Defesche, James M. Wilson, Daniel J. Rader

Journal:

The American Journal of Cardiology

Year:

2008

Language:

english

File:

PDF, 135 KB

english, 2008

14

Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands

Marina AW Umans-Eckenhausen, Joep C Defesche, Eric JG Sijbrands, Robert LJM Scheerder, John JP Kastelein

Journal:

Year:

2001

Language:

english

File:

PDF, 521 KB

english, 2001

15

Recent Origin and Spread of a Common Lithuanian Mutation, G197del LDLR, Causing Familial Hypercholesterolemia: Positive Selection Is Not Always Necessary to Account for Disease Incidence among Ashkenazi Jews

Ronen Durst, Roberto Colombo, Shoshi Shpitzen, Liat Ben Avi, Yechiel Friedlander, Roni Wexler, Frederick J. Raal, David A. Marais, Joep C. Defesche, Michail Y. Mandelshtam, Maritha J. Kotze, Eran Leit

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 168 KB

english, 2001

16

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

Watts, G. F., Gidding, S., Wierzbicki, A. S., Toth, P. P., Alonso, R., Brown, W. V., Bruckert, E., Defesche, J., Lin, K. K., Livingston, M., Mata, P., Parhofer, K. G., Raal, F. J., Santos, R. D., Sijb

Journal:

European Journal of Preventive Cardiology

Year:

2015

Language:

english

File:

PDF, 133 KB

english, 2015

17

The Agenda for Familial Hypercholesterolemia

Gidding, Samuel S., Ann Champagne, Mary, de Ferranti, Sarah D., Defesche, Joep, Ito, Matthew K., Knowles, Joshua W., McCrindle, Brian, Raal, Frederick, Rader, Daniel, Santos, Raul D., Lopes-Virella, M

Journal:

Year:

2015

Language:

english

File:

PDF, 1.56 MB

english, 2015

18

EFFICACY OF ALIROCUMAB IN 1,191 PATIENTS WITH A WIDE SPECTRUM OF MUTATIONS IN GENES CAUSATIVE FOR FAMILIAL HYPERCHOLESTEROLEMIA

Kastelein, John J.P., Langslet, Gisle, Hopkins, Paul, Defesche, Joep, Seiz, Werner, Baccara-Dinet, Marie, Hamon, Sara, Banerjee, Poulabi, Stefanutti, Claudia

Journal:

Journal of the American College of Cardiology

Year:

2016

Language:

english

File:

PDF, 362 KB

english, 2016

19

Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia

Defesche, Joep C., Stefanutti, Claudia, Langslet, Gisle, Hopkins, Paul N., Seiz, Werner, Baccara-Dinet, Marie T., Hamon, Sara C., Banerjee, Poulabi, Kastelein, John J.P.

Journal:

Journal of Clinical Lipidology

Year:

2017

Language:

english

File:

PDF, 1.20 MB

english, 2017

20

An unusual variant of Becker muscular dystrophy

Marianne De Visser, Egbert Bakker, Joep C. Defesche, Piet A. Bolhuis, Gert Jan Van Ommen

Journal:

Annals of Neurology

Year:

1990

Language:

english

File:

PDF, 710 KB

english, 1990

21

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in the Netherlands: Identification and characterization of eight novel mutations

Adriaan G. Holleboom, Jan A. Kuivenhoven, Frank Peelman, Alinda W. Schimmel, Jorge Peter, Joep C. Defesche, John J.P. Kastelein, G. Kees Hovingh, Erik S. Stroes, Mohammad Mahdi Motazacker

Journal:

Year:

2011

Language:

english

File:

PDF, 337 KB

english, 2011

22

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

Kl Khoo, P Van Acker, Jc Defesche, H Tan, L Van De Kerkhof, Sj Heijnen-van Eijk, Jjp Kastelein, Jp Deslypere

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 76 KB

english, 2000

23

Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia

P. R. W. De Sauvage Nolting, J. C. Defesche, R. J. A. Buirma, B. A. Hutten, P. J. Lansberg, J. J. P. Kastelein

Journal:

Journal of Internal Medicine

Year:

2003

Language:

english

File:

PDF, 82 KB

english, 2003

24

DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases

J. C. Defesche, M. Visser, E. Bakker, G. Bouwsma, J. J. M. Vijlder, P. A. Bolhuis

Journal:

Year:

1989

Language:

english

File:

PDF, 433 KB

english, 1989

25

South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population

J. C. Defesche, D. E. Diermen, P. J. Lansberg, R. J. Lamping, P. W. A. Reymer, M. R. Hayden, J. J. P. Kastelein

Journal:

Year:

1993

Language:

english

File:

PDF, 484 KB

english, 1993

26

Einfluß des Dispersionsgrades einer feinkörnigen (200å) amorphen Kieselsäure auf die biologische Wirkung bei intratrachealen Rattenversuchen

H. -W. Schlipköter, I. Rothes, A. J. Defesche

Journal:

Medical Microbiology and Immunology

Year:

1957

Language:

german

File:

PDF, 1.68 MB

german, 1957

27

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in theLDLRgene

Jolanta Kubalska, Magdalena Chmara, Janusz Limon, Aldona Wierzbicka, Sylwester Prokurat, Janina Szaplyko, Agnieszka Kowalik, Hanna Mierzewska, Joep C. Defesche, Ewa Pronicka

Journal:

Journal of Applied Genetics

Year:

2008

Language:

english

File:

PDF, 71 KB

english, 2008

28

The molecular basis of familial hypercholesterolemia in The Netherlands

Sigrid W. Fouchier, Joep C. Defesche, Marina A. Umans-Eckenhausen, John J. Kastelein

Journal:

Year:

2001

Language:

english

File:

PDF, 97 KB

english, 2001

29

Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: One novel and several established mutations

Melchior C. Nierman, Jorge Peter, Kah-Lin Khoo, Joep C. Defesche

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 109 KB

english, 2006

30

A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia

P. Lombardi, J.C. Defesche, S.W.A. Kamerling, J.J.P. Kastelein, L.M. Havekes

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 216 KB

english, 1997

31

A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia

P. Lombardi, J.C. Defesche, S.W.A. Kamerling, J.J.P. Kastelein, L.M. Havekes

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 159 KB

english, 1997

32

Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing

JC Defesche, EJM Schuurman, LN Klaaijsen, KL Khoo, A Wiegman, AFH Stalenhoef

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 280 KB

english, 2008

33

Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis

R Huijgen, ADM Stork, JC Defesche, J Peter, R Alonso, A Cuevas, JJP Kastelein, M Duran, ESG Stroes

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 605 KB

english, 2012

34

Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia

van Aalst-Cohen, Emily S, Jansen, Angelique C M, Boekholdt, S Matthijs, Tanck, Michael W T, Fontecha, Marcel R, Cheng, Suzanne, Li, Jia, Defesche, Joep C, Kuivenhoven, Jan Albert, Kastelein, John J P

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 93 KB

english, 2005

35

Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia

Fouchier, Sigrid W, Rodenburg, Jessica, Defesche, Joep C, Harper, P S

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 158 KB

english, 2005

36

Usefulness of Genetic Polymorphisms and Conventional Risk Factors to Predict Coronary Heart Disease in Patients With Familial Hypercholesterolemia

Jeroen B. van der Net, A. Cecile J.W. Janssens, Joep C. Defesche, John J.P. Kastelein, Eric J.G. Sijbrands, Ewout W. Steyerberg

Journal:

The American Journal of Cardiology

Year:

2009

Language:

english

File:

PDF, 105 KB

english, 2009

37

Review of first 5 years of screening for familial hypercholesterolemia in The Netherlands

M.A.W Umans-Eckenhausen, J.C Defesche, E.J.G Sijbrands, R.L.J.M Scheerder, J.J.P Kastelein

Journal:

ACC Current Journal Review

Year:

2001

Language:

english

File:

PDF, 31 KB

english, 2001

38

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia

R. P. Surendran, M. E. Visser, S. Heemelaar, J. Wang, J. Peter, J. C. Defesche, J. A. Kuivenhoven, M. Hosseini, M. Péterfy, J. J. P. Kastelein, C. T. Johansen, R. A. Hegele, E. S. G. Stroes, G. M. Dal

Journal:

Journal of Internal Medicine

Year:

2012

Language:

english

File:

PDF, 307 KB

english, 2012

39

Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada

J. C. Defesche, M. A. van de Ree, J. J. P. Kastelein, D. E. van Diermen, N. W. E. Janssans, J. J. van Doormaal, M. R. Hayden

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 749 KB

english, 1992

40

Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada

J. C. Defesche, M. A. van de Ree, J. J. P. Kastelein, D. E. van Diermen, N. W. E. Janssens, J. J. van Doormaal, M. R. Hayden

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 745 KB

english, 1992

41

Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia

P. Lombardi, S. W. A. Kamerling, J. C. Defesche, J. J. P. Kastelein, L. M. Havekes

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 308 KB

english, 1996

42

Low-density lipoprotein receptor mutations generate synthetic genome-wide associations

Oosterveer, Daniëlla M, Versmissen, Jorie, Defesche, Joep C, Sivapalaratnam, Suthesh, Yazdanpanah, Mojgan, Mulder, Monique, van der Zee, Leonie, Uitterlinden, André G, van Duijn, Cornelia M, Hofman, A

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 198 KB

english, 2012

43

Differential diagnosis of genetic disease by DNA restriction fragment length polymorphisms

P.A. Bolhuis, J.C. Defesche, H.J. van der Helm

Journal:

Clinica Chimica Acta

Year:

1987

Language:

english

File:

PDF, 404 KB

english, 1987

44

Familial hypercholesterolaemia

Marina AW Umans-Eckenhausen, Joep C Defesche, Eric GJ Sijbrands, John JP Kastelein

Journal:

Year:

2001

Language:

english

File:

PDF, 43 KB

english, 2001

45

Molecular epidemiology of familial hypercholesterolaemia

Joep C Defesche, John JP Kastelein

Journal:

Year:

1998

Language:

english

File:

PDF, 45 KB

english, 1998

46

Molecular genetics and gene expression in atherosclerosis

Pieter A Doevendans, Wouter Jukema, Wilko Spiering, Joep C Defesche, John J.P Kastelein

Journal:

International Journal of Cardiology

Year:

2001

Language:

english

File:

PDF, 620 KB

english, 2001

47

Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element

C.F Hoogendijk, C.L Scholtz, S.M Pimstone, E Ehrenborg, J.J P Kastelein, J.C Defesche, R Thiart, L du Plessis, J.N.P de Villiers, M.G Zaahl, R Delport, D.C Rubinsztein, L.J Raffel, C.E Grim, S Mediene

Journal:

Molecular and Cellular Probes

Year:

2003

Language:

english

File:

PDF, 113 KB

english, 2003

48

Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes

D. M. Kusters, R. Huijgen, J. C. Defesche, M. N. Vissers, I. Kindt, B. A. Hutten, J. J. P. Kastelein

Journal:

Netherlands Heart Journal

Year:

2011

Language:

english

File:

PDF, 932 KB

english, 2011

49

Characterization of point mutations in the LDL receptor gene in Dutch patients with heterozygous familial hypercholesterolemia (FH)

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

Journal:

Atherosclerosis

Year:

1994

Language:

english

File:

PDF, 150 KB

english, 1994

50

Familial defective apolipoprotein B-100: one hundred Dutch heterozygotes

L.W.L. Fraza, K.A. Ankone, M. Anker, G.C.G. van Rijckevorsel, C.L. Pricker, J.C. Defesche, J.J.P. Kastelein

Journal:

Atherosclerosis

Year:

1994

Language:

english

File:

PDF, 155 KB

english, 1994

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