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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

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

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

17

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

18

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

19

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

20

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

21

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

22

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

23

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

24

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

25

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

26

Molecular epidemiology of familial hypercholesterolaemia

Joep C Defesche, John JP Kastelein

Journal:

Year:

1998

Language:

english

File:

PDF, 45 KB

english, 1998

27

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

28

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

29

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

30

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

31

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

32

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

33

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

34

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

35

World Health Organisation Report on Familial Hypercholesterolemia

Journal:

Atherosclerosis

Year:

2001

Language:

english

File:

PDF, 26 KB

english, 2001

36

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

37

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

38

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

39

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

40

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

41

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

42

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

43

A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe

Stef, Marianne A., Palacios, Lourdes, Olano-Martín, Estibaliz, Foe-A-Man, Carolyn, van de Kerkhof, Laura, Klaaijsen, Lisette N., Molano, Araitz, Schuurman, Ellen J., Tejedor, Diego, Defesche, Joep C.

Journal:

The Journal of Molecular Diagnostics

Year:

2013

Language:

english

File:

PDF, 433 KB

english, 2013

44

Identification of a New Mutation, S305C, in Exon 7 of the Low-Density Lipoprotein Receptor Gene in a Brazilian Family with Homozygous Familial Hypercholesterolemia

van de Kerkhof, Laura, Van Eijk, Silvia J., Defesche, Joep C., Dos-Santos, José-Ernesto

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 85 KB

english, 2003

45

Familial hypercholesterolemia: current treatment and advances in management

Huijgen, Roeland, Vissers, Maud N, Defesche, Joep C, Lansberg, Peter J, Kastelein, John JP, Hutten, Barbara A

Journal:

Expert Review of Cardiovascular Therapy

Year:

2008

Language:

english

File:

PDF, 3.47 MB

english, 2008

46

In Memoriam: Dato Dr Khoo Kah-Lin – Obituary

Defesche, Joep C., Livingston, Michael

Journal:

Atherosclerosis

Year:

2015

Language:

english

File:

PDF, 132 KB

english, 2015

47

Association Between Familial Hypercholesterolemia and Prevalence of Type 2 Diabetes Mellitus

Besseling, Joost, Kastelein, John J. P., Defesche, Joep C., Hutten, Barbara A., Hovingh, G. Kees

Journal:

JAMA The Journal of the American Medical Association

Year:

2015

Language:

english

File:

PDF, 278 KB

english, 2015

48

Lysosomal acid lipase A and the hypercholesterolaemic phenotype

Fouchier, Sigrid W., Defesche, Joep C.

Journal:

Current Opinion in Lipidology

Year:

2013

Language:

english

File:

PDF, 207 KB

english, 2013

49

Quality Assessment of the Genetic Test for Familial Hypercholesterolemia in The Netherlands

Kindt, Iris, Huijgen, Roeland, Boekel, Marieke, van der Gaag, Kristiaan J., Defesche, Joep C., Kastelein, John J. P., de Knijff, Peter

Journal:

Year:

2013

Language:

english

File:

PDF, 179 KB

english, 2013

50

Familial Defective Apolipoprotein B-100 Is Clinically Indistinguishable From Familial Hypercholesterolemia

Defesche, Joep C.

Journal:

Archives of Internal Medicine

Year:

1993

Language:

english

File:

PDF, 4.09 MB

english, 1993

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