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Items: 1 to 20 of 169

1.

Cosegregation of serum cholesterol with cholesterol intestinal absorption markers in families with primary hypercholesterolemia without mutations in LDLR, APOB, PCSK9 and APOE genes.

Baila-Rueda L, Pérez-Ruiz MR, Jarauta E, Tejedor MT, Mateo-Gallego R, Lamiquiz-Moneo I, de Castro-Orós I, Cenarro A, Civeira F.

Atherosclerosis. 2016 Mar;246:202-7. doi: 10.1016/j.atherosclerosis.2016.01.005. Epub 2016 Jan 6.

PMID:
26802983
2.

Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE.

Jarauta E, Pérez-Ruiz MR, Pérez-Calahorra S, Mateo-Gallego R, Cenarro A, Cofán M, Ros E, Civeira F, Tejedor MT.

J Clin Lipidol. 2016 Nov - Dec;10(6):1397-1405.e2. doi: 10.1016/j.jacl.2016.09.011. Epub 2016 Sep 22.

PMID:
27919357
3.

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.

Slimani A, Jelassi A, Jguirim I, Najah M, Rebhi L, Omezzine A, Maatouk F, Hamda KB, Kacem M, Rabès JP, Abifadel M, Boileau C, Rouis M, Slimane MN, Varret M.

Atherosclerosis. 2012 May;222(1):158-66. doi: 10.1016/j.atherosclerosis.2012.02.018. Epub 2012 Feb 19.

PMID:
22417841
4.

Molecular genetics of familial hypercholesterolemia in Israel-revisited.

Durst R, Ibe UK, Shpitzen S, Schurr D, Eliav O, Futema M, Whittall R, Szalat A, Meiner V, Knobler H, Gavish D, Henkin Y, Ellis A, Rubinstein A, Harats D, Bitzur R, Hershkovitz B, Humphries SE, Leitersdorf E.

Atherosclerosis. 2017 Feb;257:55-63. doi: 10.1016/j.atherosclerosis.2016.12.021. Epub 2016 Dec 18.

PMID:
28104544
5.

Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes.

García-Otín AL, Cofán M, Junyent M, Recalde D, Cenarro A, Pocoví M, Ros E, Civeira F.

J Clin Endocrinol Metab. 2007 Sep;92(9):3667-73. Epub 2007 Jun 12.

PMID:
17566095
6.

Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.

Pek SLT, Dissanayake S, Fong JCW, Lin MX, Chan EZL, Tang JI, Lee CW, Ong HY, Sum CF, Lim SC, Tavintharan S.

Atherosclerosis. 2018 Feb;269:106-116. doi: 10.1016/j.atherosclerosis.2017.12.028. Epub 2017 Dec 27.

PMID:
29353225
7.

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.

Grenkowitz T, Kassner U, Wühle-Demuth M, Salewsky B, Rosada A, Zemojtel T, Hopfenmüller W, Isermann B, Borucki K, Heigl F, Laufs U, Wagner S, Kleber ME, Binner P, März W, Steinhagen-Thiessen E, Demuth I.

Atherosclerosis. 2016 Oct;253:88-93. doi: 10.1016/j.atherosclerosis.2016.08.037. Epub 2016 Aug 26.

PMID:
27596133
8.

Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.

Garcia-Garcia AB, Ivorra C, Martinez-Hervas S, Blesa S, Fuentes MJ, Puig O, Martín-de-Llano JJ, Carmena R, Real JT, Chaves FJ.

Atherosclerosis. 2011 Oct;218(2):423-30. doi: 10.1016/j.atherosclerosis.2011.07.106. Epub 2011 Jul 30.

PMID:
21868016
9.

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Khera AV, Won HH, Peloso GM, Lawson KS, Bartz TM, Deng X, van Leeuwen EM, Natarajan P, Emdin CA, Bick AG, Morrison AC, Brody JA, Gupta N, Nomura A, Kessler T, Duga S, Bis JC, van Duijn CM, Cupples LA, Psaty B, Rader DJ, Danesh J, Schunkert H, McPherson R, Farrall M, Watkins H, Lander E, Wilson JG, Correa A, Boerwinkle E, Merlini PA, Ardissino D, Saleheen D, Gabriel S, Kathiresan S.

J Am Coll Cardiol. 2016 Jun 7;67(22):2578-89. doi: 10.1016/j.jacc.2016.03.520. Epub 2016 Apr 3.

10.

APOE p.Leu167del mutation in familial hypercholesterolemia.

Awan Z, Choi HY, Stitziel N, Ruel I, Bamimore MA, Husa R, Gagnon MH, Wang RH, Peloso GM, Hegele RA, Seidah NG, Kathiresan S, Genest J.

Atherosclerosis. 2013 Dec;231(2):218-22. doi: 10.1016/j.atherosclerosis.2013.09.007. Epub 2013 Sep 19.

PMID:
24267230
11.

The genetic spectrum of familial hypercholesterolemia in the central south region of China.

Xiang R, Fan LL, Lin MJ, Li JJ, Shi XY, Jin JY, Liu YX, Chen YQ, Xia K, Zhao SP.

Atherosclerosis. 2017 Mar;258:84-88. doi: 10.1016/j.atherosclerosis.2017.02.007. Epub 2017 Feb 11.

PMID:
28235710
12.

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.

Pirillo A, Garlaschelli K, Arca M, Averna M, Bertolini S, Calandra S, Tarugi P, Catapano AL; LIPIGEN Group.

Atheroscler Suppl. 2017 Oct;29:17-24. doi: 10.1016/j.atherosclerosissup.2017.07.002.

13.

Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia.

Rubba P, Gentile M, Marotta G, Iannuzzi A, Sodano M, De Simone B, Jossa F, Iannuzzo G, Giacobbe C, Di Taranto MD, Fortunato G.

Eur J Prev Cardiol. 2017 Jul;24(10):1051-1059. doi: 10.1177/2047487317702040. Epub 2017 Mar 29.

PMID:
28353356
14.

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Wintjens R, Bozon D, Belabbas K, MBou F, Girardet JP, Tounian P, Jolly M, Boccara F, Cohen A, Karsenty A, Dubern B, Carel JC, Azar-Kolakez A, Feillet F, Labarthe F, Gorsky AM, Horovitz A, Tamarindi C, Kieffer P, Lienhardt A, Lascols O, Di Filippo M, Dufernez F.

J Lipid Res. 2016 Mar;57(3):482-91. doi: 10.1194/jlr.P055699. Epub 2016 Jan 22.

15.

Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.

Setia N, Saxena R, Arora A, Verma IC.

Atherosclerosis. 2016 Dec;255:31-36. doi: 10.1016/j.atherosclerosis.2016.10.028. Epub 2016 Oct 14.

PMID:
27816806
16.

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

Sánchez-Hernández RM, Civeira F, Stef M, Perez-Calahorra S, Almagro F, Plana N, Novoa FJ, Sáenz-Aranzubía P, Mosquera D, Soler C, Fuentes FJ, Brito-Casillas Y, Real JT, Blanco-Vaca F, Ascaso JF, Pocovi M.

Circ Cardiovasc Genet. 2016 Dec;9(6):504-510. doi: 10.1161/CIRCGENETICS.116.001545. Epub 2016 Oct 26.

PMID:
27784735
17.

ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.

Lamiquiz-Moneo I, Baila-Rueda L, Bea AM, Mateo-Gallego R, Pérez-Calahorra S, Marco-Benedí V, Martín-Navarro A, Ros E, Cofán M, Rodríguez-Rey JC, Pocovi M, Cenarro A, Civeira F.

J Clin Lipidol. 2017 Nov - Dec;11(6):1432-1440.e4. doi: 10.1016/j.jacl.2017.09.005. Epub 2017 Oct 4.

PMID:
29066094
18.

Bile acid synthesis precursors in subjects with genetic hypercholesterolemia negative for LDLR/APOB/PCSK9/APOE mutations. Association with lipids and carotid atherosclerosis.

Baila-Rueda L, Cenarro A, Lamiquiz-Moneo I, Mateo-Gallego R, Bea AM, Perez-Calahorra S, Marco-Benedi V, Civeira F.

J Steroid Biochem Mol Biol. 2017 May;169:226-233. doi: 10.1016/j.jsbmb.2016.10.003. Epub 2016 Oct 18.

PMID:
27769814
19.

Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.

Huijgen R, Sjouke B, Vis K, de Randamie JS, Defesche JC, Kastelein JJ, Hovingh GK, Fouchier SW.

Hum Mutat. 2012 Feb;33(2):448-55. doi: 10.1002/humu.21660. Epub 2011 Dec 22.

PMID:
22095935
20.

Familial Hypercholesterolemia Phenotype in Chinese Patients Undergoing Coronary Angiography.

Li JJ, Li S, Zhu CG, Wu NQ, Zhang Y, Guo YL, Gao Y, Li XL, Qing P, Cui CJ, Xu RX, Jiang ZW, Sun J, Liu G, Dong Q.

Arterioscler Thromb Vasc Biol. 2017 Mar;37(3):570-579. doi: 10.1161/ATVBAHA.116.308456. Epub 2016 Dec 8.

PMID:
27932355

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