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

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

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

Por 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
Publicado em 2001

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...

Por 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
Publicado em 2001

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

Por 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
Publicado em 2008

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

Por 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
Publicado em 1995

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

Por 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
Publicado em 2013

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

Por 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
Publicado em 2012

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

Por 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.
Publicado em 2008

Refinement of variant selection for the LDL-C genetic risk score in the diagnosis of the polygenic form of clinical Familial Hypercholesterolemia and replication in samples from si...

Por Futema, Marta, Shah, Sonia, Cooper, Jackie A, Li, KaWah, Whittall, Ros A, Sharifi, Mahtab, Goldberg, Olivia, Drogari, Euridiki, Mollaki, Vasiliki, Wiegman, Albert, Defesche, Joep, D’Agostino, Maria N, D’Angelo, Antonietta, Rubba, Paolo, Fortunato, Giuliana, Walus-Miarka, Małgorzata, Hegele, Robert A, Bamimore, Mary Aderayo, Durst, Ronen, Leitersdorf, Eran, Mulder, Monique T, Roeters van Lennep, Janine E, Sijbrands, Eric J G, Whittaker, John C, Talmud, Philippa J, Humphries, Steve E
Publicado no Clin Chem (2014)

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

Por 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
Publicado em 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...

Por 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
Publicado em 2014

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

Por 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
Publicado no Eur Heart J (2015)

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

Por 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
Publicado em 2013

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody

Por Hopkins, Paul N., Defesche, Joep, Fouchier, Sigrid W., Bruckert, Eric, Luc, Gérald, Cariou, Bertrand, Sjouke, Barbara, Leren, Trond P., Harada-Shiba, Mariko, Mabuchi, Hiroshi, Rabès, Jean-Pierre, Carrié, Alain, van Heyningen, Charles, Carreau, Valérie, Farnier, Michel, Teoh, Yee P., Bourbon, Mafalda, Kawashiri, Masa-aki, Nohara, Atsushi, Soran, Handrean, Marais, A. David, Tada, Hayato, Abifadel, Marianne, Boileau, Catherine, Chanu, Bernard, Katsuda, Shoji, Kishimoto, Ichiro, Lambert, Gilles, Makino, Hisashi, Miyamoto, Yoshihiro, Pichelin, Matthieu, Yagi, Kunimasa, Yamagishi, Masakazu, Zair, Yassine, Mellis, Scott, Yancopoulos, George D., Stahl, Neil, Mendoza, Johanna, Du, Yunling, Hamon, Sara, Krempf, Michel, Swergold, Gary D.
Publicado no Circ Cardiovasc Genet (2015)

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

Por 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
Publicado no Eur J Hum Genet (2015)