| Title : Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia - Stitziel_2013_Arterioscler.Thromb.Vasc.Biol_33_2909 |
| Author(s) : Stitziel NO , Fouchier SW , Sjouke B , Peloso GM , Moscoso AM , Auer PL , Goel A , Gigante B , Barnes TA , Melander O , Orho-Melander M , Duga S , Sivapalaratnam S , Nikpay M , Martinelli N , Girelli D , Jackson RD , Kooperberg C , Lange LA , Ardissino D , McPherson R , Farrall M , Watkins H , Reilly MP , Rader DJ , de Faire U , Schunkert H , Erdmann J , Samani NJ , Charnas L , Altshuler D , Gabriel S , Kastelein JJ , Defesche JC , Nederveen AJ , Kathiresan S , Hovingh GK |
| Ref : Arterioscler Thromb Vasc Biol , 33 :2909 , 2013 |
| Abstract : Stitziel_2013_Arterioscler.Thromb.Vasc.Biol_33_2909 |
| ESTHER : Stitziel_2013_Arterioscler.Thromb.Vasc.Biol_33_2909 |
| PubMedSearch : Stitziel_2013_Arterioscler.Thromb.Vasc.Biol_33_2909 |
| PubMedID: 24072694 |
| Title : Polymorphisms associated with cholesterol and risk of cardiovascular events - Kathiresan_2008_N.Engl.J.Med_358_1240 |
| Author(s) : Kathiresan S , Melander O , Anevski D , Guiducci C , Burtt NP , Roos C , Hirschhorn JN , Berglund G , Hedblad B , Groop L , Altshuler DM , Newton-Cheh C , Orho-Melander M |
| Ref : N Engl J Med , 358 :1240 , 2008 |
| Abstract : Kathiresan_2008_N.Engl.J.Med_358_1240 |
| ESTHER : Kathiresan_2008_N.Engl.J.Med_358_1240 |
| PubMedSearch : Kathiresan_2008_N.Engl.J.Med_358_1240 |
| PubMedID: 18354102 |
| Title : Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile - Bengtsson-Ellmark_2004_Eur.J.Hum.Genet_12_627 |
| Author(s) : Bengtsson-Ellmark SH , Nilsson J , Orho-Melander M , Dahlenborg K , Groop L , Bjursell G |
| Ref : Eur J Hum Genet , 12 :627 , 2004 |
| Abstract : Bengtsson-Ellmark_2004_Eur.J.Hum.Genet_12_627 |
| ESTHER : Bengtsson-Ellmark_2004_Eur.J.Hum.Genet_12_627 |
| PubMedSearch : Bengtsson-Ellmark_2004_Eur.J.Hum.Genet_12_627 |
| PubMedID: 15114370 |