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Items: 1 to 20 of 364

1.

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
2.

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
3.

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
4.

Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.

Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Inoue T, Mori M, Tada H, Nakanishi C, Yagi K, Yamagishi M, Ueda K, Takegoshi T, Miyamoto S, Inazu A, Koizumi J; Hokuriku FH Study Group.

Atherosclerosis. 2014 Sep;236(1):54-61. doi: 10.1016/j.atherosclerosis.2014.06.005. Epub 2014 Jun 26.

PMID:
25014035
5.

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
6.

Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan.

Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Tada H, Nakanishi C, Mori M, Yamagishi M, Inazu A, Koizumi J; Hokuriku FH Study Group.

Atherosclerosis. 2011 Feb;214(2):404-7. doi: 10.1016/j.atherosclerosis.2010.11.005. Epub 2010 Nov 13.

PMID:
21146822
7.

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.

8.

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
9.

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
10.

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
11.

Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

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

Lipids Health Dis. 2019 Apr 11;18(1):95. doi: 10.1186/s12944-019-1042-3.

12.

A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.

Wang D, Wu B, Li Y, Heng W, Zhong H, Mu Y, Wang J.

J Hum Genet. 2001;46(3):152-4.

PMID:
11310584
13.

Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan.

Hsiung YC, Lin PC, Chen CS, Tung YC, Yang WS, Chen PL, Su TC.

Atherosclerosis. 2018 Oct;277:440-447. doi: 10.1016/j.atherosclerosis.2018.08.022.

PMID:
30270083
14.

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
15.

Homozygous familial hypercholesterolaemia in Vietnam: Case series, genetics and cascade testing of families.

Truong TH, Kim NT, Nguyen MNT, Pang J, Hooper AJ, Watts GF, Do DL.

Atherosclerosis. 2018 Oct;277:392-398. doi: 10.1016/j.atherosclerosis.2018.06.013.

PMID:
30270076
16.

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
17.

Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.

Sun D, Zhou BY, Li S, Sun NL, Hua Q, Wu SL, Cao YS, Guo YL, Wu NQ, Zhu CG, Gao Y, Cui CJ, Liu G, Li JJ.

Lipids Health Dis. 2018 Nov 6;17(1):252. doi: 10.1186/s12944-018-0900-8.

18.

The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.

Fairoozy RH, Futema M, Vakili R, Abbaszadegan MR, Hosseini S, Aminzadeh M, Zaeri H, Mobini M, Humphries SE, Sahebkar A.

Sci Rep. 2017 Dec 6;7(1):17087. doi: 10.1038/s41598-017-17181-9.

19.

Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients.

Wang L, Lin J, Liu S, Cao S, Liu J, Yong Q, Yang Y, Wu B, Pan X, Du L, Wu C, Qin Y, Chen B.

Nutr Metab Cardiovasc Dis. 2009 Jul;19(6):391-400. doi: 10.1016/j.numecd.2008.07.011. Epub 2008 Dec 13.

PMID:
19073363
20.

Spectrum of mutations of familial hypercholesterolemia in the 22 Arab countries.

Alhababi D, Zayed H.

Atherosclerosis. 2018 Dec;279:62-72. doi: 10.1016/j.atherosclerosis.2018.10.022. Epub 2018 Oct 19.

PMID:
30415195

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