Publications:

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg

I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert

Publication Date: 2016-02

Variant appearance in text: LDLR: 1359-1G>A

PubMed Link: 26036859

Variant Present in the following documents:

• Main text

View BVdb publication page

Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.

Bmc Cardiovascular Disorders

I Brænne, B Reiz, A Medack, M Kleinecke, M Fischer, S Tuna, C Hengstenberg, P Deloukas, J Erdmann, H Schunkert,

Publication Date: 2014-08-26

Variant appearance in text: LDLR: 1359-1G>A

PubMed Link: 25154303

Variant Present in the following documents:

• Main text

View BVdb publication page

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

European Journal Of Human Genetics : Ejhg

J Versmissen, DM Oosterveer, M Yazdanpanah, A Dehghan, H Hólm, J Erdman, YS Aulchenko, G Thorleifsson, H Schunkert, R Huijgen, R Vongpromek, AG Uitterlinden, JC Defesche, CM van Duijn, M Mulder, T Dadd, HD Karlsson, J Ordovas, I Kindt, A Jarman, A Hofman, L van Vark-van der Zee, AC Blommesteijn-Touw, J Kwekkeboom, AH Liem, FJ van der Ouderaa, S Calandra, S Bertolini, M Averna, G Langslet, L Ose, E Ros, F Almagro, PW de Leeuw, F Civeira, L Masana, X Pintó, ML Simoons, AF Schinkel, MR Green, AH Zwinderman, KJ Johnson, A Schaefer, A Neil, JC Witteman, SE Humphries, JJ Kastelein, EJ Sijbrands

Publication Date: 2015-03

Variant appearance in text: LDLR: 1359-1G>A

PubMed Link: 24916650

Variant Present in the following documents:

• Main text

View BVdb publication page

Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.

Cholesterol

I Kindt, R Huijgen, M Boekel, KJ van der Gaag, JC Defesche, JJ Kastelein, P de Knijff

Publication Date: 2013

Variant appearance in text: LDLR: 1359-1G>A

PubMed Link: 23936638

Variant Present in the following documents:

• 531658.f1.doc

View BVdb publication page

Alternative transcript annotations: