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

af Kindt, Iris, Huijgen, Roeland, Boekel, Marieke, van der Gaag, Kristiaan J., Defesche, Joep C., Kastelein, John J. P., de Knijff, Peter
Udgivet 2013

Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study

af Sijbrands, Eric J G, Westendorp, Rudi G J, Defesche, Joep C, de Meier, Paul H E M, Smelt, Augustinus H M, Kastelein, John J P
Udgivet 2001

Differential DNA methylation in familial hypercholesterolemia

af Reeskamp, Laurens F., Venema, Andrea, Pereira, Joao P.Belo, Levin, Evgeni, Nieuwdorp, Max, Groen, Albert K., Defesche, Joep C., Grefhorst, Aldo, Henneman, Peter, Hovingh, G.Kees
Udgivet i EBioMedicine (2020)

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

af Durst, Ronen, Colombo, Roberto, Shpitzen, Shoshi, Avi, Liat Ben, Friedlander, Yechiel, Wexler, Roni, Raal, Frederick J., Marais, David A., Defesche, Joep C., Mandelshtam, Michail Y., Kotze, Maritha J., Leitersdorf, Eran, Meiner, Vardiella
Udgivet 2001

Efficacy of statins in familial hypercholesterolaemia: a long term cohort study

af Versmissen, Jorie, Oosterveer, Daniëlla M, Yazdanpanah, Mojgan, Defesche, Joep C, Basart, Dick C G, Liem, Anho H, Heeringa, Jan, Witteman, Jacqueline C, Lansberg, Peter J, Kastelein, John J P, Sijbrands, Eric J G
Udgivet 2008

The Gene for Hereditary Bullous Dystrophy, X-Linked Macular Type, Maps to the Xq27.3-qter Region

af Wijker, Mario, Ligtenberg, Marjolijn J. L., Schoute, Frans, Defesche, Joep C., Pals, Gerard, Bolhuis, Pieter A, Ropers, Hans H., Hulsebos, Theo J. M., Menko, Fred H., van Oost, Bernard A., Lungarotti, M. Serena, Arwert, Fré
Udgivet 1995

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

af 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, Albert, Kastelein, John J P, Aulchenko, Yurii S, Sijbrands, Eric J G
Udgivet 2013

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

af Surendran, R Preethi, Visser, Maartje E, Heemelaar, Steffie, Wang, Jian, Peter, Jorge, Defesche, Joep C, Kuivenhoven, Jan A, Hosseini, Maryam, Péterfy, Miklós, Kastelein, John JP, Johansen, Chris T, Hegele, Robert A, Stroes, Erik SG, Dallinga-Thie, Geesje M
Udgivet 2012

Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia

af van der Net, Jeroen B., Oosterveer, Daniëlla M., Versmissen, Jorie, Defesche, Joep C., Yazdanpanah, Mojgan, Aouizerat, Bradley E., Steyerberg, Ewout W., Malloy, Mary J., Pullinger, Clive R., Kastelein, John J.P., Kane, John P., Sijbrands, Eric J.G.
Udgivet 2008

ClinVar database of global familial hypercholesterolemia-associated DNA variants

af Iacocca, Michael A., Chora, Joana R., Carrie, Alain, Freiberger, Tomas, Leigh, Sarah E., Defesche, Joep C., Kurtz, C. Lisa, DiStefano, Marina T., Santos, Raul, Humphries, Steve E., Mata, Pedro, Jannes, Cinthia, Hooper, Amanda J., Wilemon, Katherine A., Benlian, Pascale, O’Connor, Robert, Garcia, John, Wand, Hannah, Tichy, Lukas, Sijbrands, Eric J., Hegele, Robert A., Bourbon, Mafalda, Knowles, Joshua W.
Udgivet i Hum Mutat (2018)

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

af Nordestgaard, Børge G., Chapman, M. John, Humphries, Steve E., Ginsberg, Henry N., Masana, Luis, Descamps, Olivier S., Wiklund, Olov, Hegele, Robert A., Raal, Frederick J., Defesche, Joep C., Wiegman, Albert, Santos, Raul D., Watts, Gerald F., Parhofer, Klaus G., Hovingh, G. Kees, Kovanen, Petri T., Boileau, Catherine, Averna, Maurizio, Borén, Jan, Bruckert, Eric, Catapano, Alberico L., Kuivenhoven, Jan Albert, Pajukanta, Päivi, Ray, Kausik, Stalenhoef, Anton F. H., Stroes, Erik, Taskinen, Marja-Riitta, Tybjærg-Hansen, Anne
Udgivet 2013

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Famil...

af Cuchel, Marina, Bruckert, Eric, Ginsberg, Henry N., Raal, Frederick J., Santos, Raul D., Hegele, Robert A., Kuivenhoven, Jan Albert, Nordestgaard, Børge G., Descamps, Olivier S., Steinhagen-Thiessen, Elisabeth, Tybjærg-Hansen, Anne, Watts, Gerald F., Averna, Maurizio, Boileau, Catherine, Borén, Jan, Catapano, Alberico L., Defesche, Joep C., Hovingh, G. Kees, Humphries, Steve E., Kovanen, Petri T., Masana, Luis, Pajukanta, Päivi, Parhofer, Klaus G., Ray, Kausik K., Stalenhoef, Anton F. H., Stroes, Erik, Taskinen, Marja-Riitta, Wiegman, Albert, Wiklund, Olov, Chapman, M. John, Cuchel, Marina, Bruckert, Eric, Chapman, M. John, Descamps, Olivier S., Ginsberg, Henry N., Hegele, Robert A., Kuivenhoven, Jan Albert, Nordestgaard, Børge G., Raal, Frederick J., Santos, Raul D., Steinhagen-Thiessen, Elisabeth, Tybjærg-Hansen, Anne, Watts, Gerald F., Chapman, M. John, Ginsberg, Henry N., Averna, Maurizio, Boileau, Catherine, Borén, Jan, Catapano, Alberico L., Defesche, Joep C., Hovingh, G. Kees, Humphries, Steve E., Kovanen, Petri T., Masana, Luis, Pajukanta, Päivi, Parhofer, Klaus G., Ray, Kausik K., Stalenhoef, Anton F. H., Stroes, Erik, Taskinen, Marja-Riitta, Wiegman, Albert, Wiklund, Olov
Udgivet 2014

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

af Wiegman, Albert, Gidding, Samuel S., Watts, Gerald F., Chapman, M. John, Ginsberg, Henry N., Cuchel, Marina, Ose, Leiv, Averna, Maurizio, Boileau, Catherine, Borén, Jan, Bruckert, Eric, Catapano, Alberico L., Defesche, Joep C., Descamps, Olivier S., Hegele, Robert A., Hovingh, G. Kees, Humphries, Steve E., Kovanen, Petri T., Kuivenhoven, Jan Albert, Masana, Luis, Nordestgaard, Børge G., Pajukanta, Päivi, Parhofer, Klaus G., Raal, Frederick J., Ray, Kausik K., Santos, Raul D., Stalenhoef, Anton F.H., Steinhagen- Thiessen, Elisabeth, Stroes, Erik S., Taskinen, Marja-Riitta, Tybjærg-Hansen, Anne, Wiklund, Olov
Udgivet i Eur Heart J (2015)

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

af Stitziel, Nathan O., Fouchier, Sigrid W., Sjouke, Barbara, Peloso, Gina M., Moscoso, Alessa M., Auer, Paul L., Goel, Anuj, Gigante, Bruna, Barnes, Timothy A., Melander, Olle, Orho-Melander, Marju, Duga, Stefano, Sivapalaratnam, Suthesh, Nikpay, Majid, Martinelli, Nicola, Girelli, Domenico, Jackson, Rebecca D., Kooperberg, Charles, Lange, Leslie A., Ardissino, Diego, McPherson, Ruth, Farrall, Martin, Watkins, Hugh, Reilly, Muredach P., Rader, Daniel J., de Faire, Ulf, Schunkert, Heribert, Erdmann, Jeanette, Samani, Nilesh J., Charnas, Lawrence, Altshuler, David, Gabriel, Stacey, Kastelein, John J.P., Defesche, Joep C., Nederveen, Aart J., Kathiresan, Sekar, Hovingh, G. Kees
Udgivet 2013

Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

af Versmissen, Jorie, Oosterveer, Daniëlla M, Yazdanpanah, Mojgan, Dehghan, Abbas, Hólm, Hilma, Erdman, Jeanette, Aulchenko, Yurii S, Thorleifsson, Gudmar, Schunkert, Heribert, Huijgen, Roeland, Vongpromek, Ranitha, Uitterlinden, André G, Defesche, Joep C, van Duijn, Cornelia M, Mulder, Monique, Dadd, Tony, Karlsson, Hróbjartur D, Ordovas, Jose, Kindt, Iris, Jarman, Amelia, Hofman, Albert, van Vark-van der Zee, Leonie, Blommesteijn-Touw, Adriana C, Kwekkeboom, Jaap, Liem, Anho H, van der Ouderaa, Frans J, Calandra, Sebastiano, Bertolini, Stefano, Averna, Maurizio, Langslet, Gisle, Ose, Leiv, Ros, Emilio, Almagro, Fátima, de Leeuw, Peter W, Civeira, Fernando, Masana, Luis, Pintó, Xavier, Simoons, Maarten L, Schinkel, Arend FL, Green, Martin R, Zwinderman, Aeilko H, Johnson, Keith J, Schaefer, Arne, Neil, Andrew, Witteman, Jacqueline CM, Humphries, Steve E, Kastelein, John JP, Sijbrands, Eric JG
Udgivet i Eur J Hum Genet (2015)