X hits on this document





12 / 12

De Castro-Orós et al


98. Williams R, Hunt S, Schumacher C, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol. 1993;72:171–176. 99. Defesche J. Familial hypercholesterolemia.In: Betteridge J, editor.Lipids and ascular Disease. London: Martin Dunitz; 2000;6:65–76. 100. Civeira F, Ros E, Jarauta E, et al. Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia. Am J Cardiol. 2008;102:1187–1193. 101. Marks D, Wonderling D, Thorogood M, Lambert H, Humphries E, NeilAW. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolemia. BMJ. 2002;324:1303–1308. 102. Tejedor D, Castillo S, Mozas P, et al. Spanish Familial Hyperc- holesterolemia Group. Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia. Clin Chem. 2005;51:1137–1144. 103. Tejedor D, Castillo S, Mozas P, et al. Comparison of DNA array platform vs DNA sequencing as genetic diagnosis tools for familial hypercholesterolemia. Clin Chem. 2006;52:1971–1972.

104. Civeira F, Jarauta E, Cenarro A, et al. Frequency of low-density lipo- protein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. J Am Coll Cardiol. 2008;52:1546–1553. 105. Junyent M, Gilabert R, Zambón D. The use of Achilles tendon sonography to distinguish familial hypercholesterolemia from other genetic dyslipidemias. Arterioscler Thromb asc Biol. 2005;25: 2203–2208. 106. Hudgins LC, Gordon BR, Parker TS, Saal SD, Levine DM, Rubin AL. LDL apheresis: an effective and safe treatment for refractory hyper- cholesterolemia. Cardiovasc Drug Rev. 2002;20:271–280. 107. Thompson GR. LDL apheresis. Atherosclerosis. 2003;167:1–13. 108. Thompson GR. Recommendations for the use of LDL apheresis. Atherosclerosis. 2008;198:247–255. 109. Baigent C, Landry M. Study of Heart and Renal Protection (SHARP). Kidney Int Suppl. 2003;63:S07–S10. 110. Pearson T, Laurora I, Chu H, Kafonek S. The lipid assessment project. Arch Intern Med. 2000;160:459–467.

e Application of Clinical Genetics


Publish your work in this journal

The Application of Clinical Genetics is an international, peer-reviewed open access journal that welcomes laboratory and clinical findings in the field of human genetics. Specific topics include: Population genetics; Functional genetics; Natural history of genetic disease; Management of genetic disease; Mechanisms of genetic disease; Counselling and

ethical issues; Animal models; Pharmacogenetics; Prenatal diagnosis; Dysmorphology. The manuscript management system is completely online and includes a very quick and fair peer-review system, which is all easy to use. Visit http://www.dovepress.com/testimonials.php to read real quotes from published authors.

Submit your manuscript here: http://www.dovepress.com/the-application-of-clinical-genetics-journal


submit your manuscript | www.dovepress.com Dovepress

The Application of Clinical Genetics 2010:3

Document info
Document views56
Page views57
Page last viewedThu Jan 19 01:04:12 UTC 2017