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Items: 1 to 20 of 144

1.

Clinical, Anthropometric and Biochemical Characteristics of Patients with or without Genetically Confirmed Familial Hypercholesterolemia.

Lorenzo A, Silva JDLD, James CE, Pereira AC, Moreira ASB.

Arq Bras Cardiol. 2018 Feb;110(2):119-123. doi: 10.5935/abc.20180005. English, Portuguese.

2.

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
3.

Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.

Amor-Salamanca A, Castillo S, Gonzalez-Vioque E, Dominguez F, Quintana L, Lluís-Ganella C, Escudier JM, Ortega J, Lara-Pezzi E, Alonso-Pulpon L, Garcia-Pavia P.

J Am Coll Cardiol. 2017 Oct 3;70(14):1732-1740. doi: 10.1016/j.jacc.2017.08.009.

4.

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Paththinige CS, Rajapakse JRDK, Constantine GR, Sem KP, Singaraja RR, Jayasekara RW, Dissanayake VHW.

Lipids Health Dis. 2018 May 2;17(1):100. doi: 10.1186/s12944-018-0763-z.

5.

Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia.

Punzalan FE, Sy RG, Santos RS, Cutiongco EM, Gosiengfiao S, Fadriguilan E, George P, Laurie A.

J Atheroscler Thromb. 2005;12(5):276-83.

6.

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
7.

Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Futema M, Shah S, Cooper JA, Li K, Whittall RA, Sharifi M, Goldberg O, Drogari E, Mollaki V, Wiegman A, Defesche J, D'Agostino MN, D'Angelo A, Rubba P, Fortunato G, Waluś-Miarka M, Hegele RA, Aderayo Bamimore M, Durst R, Leitersdorf E, Mulder MT, Roeters van Lennep JE, Sijbrands EJ, Whittaker JC, Talmud PJ, Humphries SE.

Clin Chem. 2015 Jan;61(1):231-8. doi: 10.1373/clinchem.2014.231365. Epub 2014 Nov 20.

8.

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
9.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
10.

Analysis of Children and Adolescents with Familial Hypercholesterolemia.

Minicocci I, Pozzessere S, Prisco C, Montali A, di Costanzo A, Martino E, Martino F, Arca M.

J Pediatr. 2017 Apr;183:100-107.e3. doi: 10.1016/j.jpeds.2016.12.075. Epub 2017 Feb 1.

PMID:
28161202
11.

Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Radovica-Spalvina I, Latkovskis G, Silamikelis I, Fridmanis D, Elbere I, Ventins K, Ozola G, Erglis A, Klovins J.

BMC Med Genet. 2015 Sep 28;16:86. doi: 10.1186/s12881-015-0230-x.

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.

Lipid and lipoprotein parameters for detection of familial hypercholesterolemia in childhood. The DECOPIN Project.

Plana N, Rodríguez-Borjabad C, Ibarretxe D, Ferré R, Feliu A, Caselles A, Masana L; en representación del proyecto DECOPIN.

Clin Investig Arterioscler. 2018 Jul - Aug;30(4):170-178. doi: 10.1016/j.arteri.2017.12.003. Epub 2018 Mar 27. English, Spanish.

PMID:
29602595
14.

Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk.

Séguro F, Rabès JP, Taraszkiewicz D, Ruidavets JB, Bongard V, Ferrières J.

Clin Cardiol. 2018 Mar;41(3):385-391. doi: 10.1002/clc.22881. Epub 2018 Mar 25.

15.

Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis.

Shin DG, Han SM, Kim DI, Rhee MY, Lee BK, Ahn YK, Cho BR, Woo JT, Hur SH, Jeong JO, Jang Y, Lee JH, Lee SH.

Atherosclerosis. 2015 Nov;243(1):53-8. doi: 10.1016/j.atherosclerosis.2015.08.033. Epub 2015 Sep 5.

PMID:
26343872
16.

Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction.

Cui Y, Li S, Zhang F, Song J, Lee C, Wu M, Chen H.

Clin Cardiol. 2019 Mar;42(3):385-390. doi: 10.1002/clc.23154. Epub 2019 Feb 19.

17.

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Sharifi M, Walus-Miarka M, Idzior-Waluś B, Malecki MT, Sanak M, Whittall R, Li KW, Futema M, Humphries SE.

Metabolism. 2016 Mar;65(3):48-53. doi: 10.1016/j.metabol.2015.10.018. Epub 2015 Nov 10.

18.

Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.

Ejarque I, Real JT, Martinez-Hervas S, Chaves FJ, Blesa S, Garcia-Garcia AB, Millan E, Ascaso JF, Carmena R.

Transl Res. 2008 Mar;151(3):162-7. doi: 10.1016/j.trsl.2007.12.001. Epub 2008 Jan 7.

PMID:
18279815
19.

Evaluation of polygenic cause in Korean patients with familial hypercholesterolemia - A study supported by Korean Society of Lipidology and Atherosclerosis.

Kwon M, Han SM, Kim DI, Rhee MY, Lee BK, Ahn YK, Cho BR, Woo J, Hur SH, Jeong JO, Jang Y, Lee SH, Lee JH.

Atherosclerosis. 2015 Sep;242(1):8-12. doi: 10.1016/j.atherosclerosis.2015.06.053. Epub 2015 Jun 30.

PMID:
26160041
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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