Literature DB >> 19007591

Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia.

Gail P Jarvik, John D Brunzell, Arno G Motulsky.   

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Year:  2008        PMID： 19007591      PMCID： PMC3423908          DOI： 10.1016/j.jacc.2008.08.012

Source DB:  PubMed          Journal:  J Am Coll Cardiol        ISSN： 0735-1097            Impact factor:   24.094


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  21 in total

1.  Replication of linkage of familial combined hyperlipidemia to chromosome 1q with additional heterogeneous effect of apolipoprotein A-I/C-III/A-IV locus. The NHLBI Family Heart Study.

Authors:  H Coon; R H Myers; I B Borecki; D K Arnett; S C Hunt; M A Province; L Djousse; M F Leppert
Journal:  Arterioscler Thromb Vasc Biol       Date:  2000-10       Impact factor: 8.311

2.  Small, dense LDL and elevated apolipoprotein B are the common characteristics for the three major lipid phenotypes of familial combined hyperlipidemia.

Authors:  Amir F Ayyobi; Sandra H McGladdery; Marguerite J McNeely; Melissa A Austin; Arno G Motulsky; John D Brunzell
Journal:  Arterioscler Thromb Vasc Biol       Date:  2003-05-15       Impact factor: 8.311

3.  Analysis of genetic and environmental sources of variation in serum cholesterol in Tecumseh, Michigan. III. Identification of genetic effects using 12 polymorphic genetic blood marker systems.

Authors:  C F Sing; J D Orr
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

4.  Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene.

Authors:  K E Heath; I N Day; S E Humphries
Journal:  J Med Genet       Date:  2000-04       Impact factor: 6.318

5.  Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia.

Authors:  Sophie Eichenbaum-Voline; Michael Olivier; Emma L Jones; Rossitza P Naoumova; Bethan Jones; Brian Gau; Hetal N Patel; Mary Seed; D John Betteridge; David J Galton; Edward M Rubin; James Scott; Carol C Shoulders; Len A Pennacchio
Journal:  Arterioscler Thromb Vasc Biol       Date:  2003-10-09       Impact factor: 8.311

6.  Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia.

Authors:  J L Goldstein; H G Schrott; W R Hazzard; E L Bierman; A G Motulsky
Journal:  J Clin Invest       Date:  1973-07       Impact factor: 14.808

7.  Association of coronary atherosclerosis with hyperapobetalipoproteinemia [increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins].

Authors:  A Sniderman; S Shapiro; D Marpole; B Skinner; B Teng; P O Kwiterovich
Journal:  Proc Natl Acad Sci U S A       Date:  1980-01       Impact factor: 11.205

8.  Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).

Authors:  Päivi Pajukanta; Heidi E Lilja; Janet S Sinsheimer; Rita M Cantor; Aldons J Lusis; Massimiliano Gentile; Xiaoqun Joyce Duan; Aino Soro-Paavonen; Jussi Naukkarinen; Janna Saarela; Markku Laakso; Christian Ehnholm; Marja-Riitta Taskinen; Leena Peltonen
Journal:  Nat Genet       Date:  2004-02-29       Impact factor: 38.330

9.  Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia.

Authors:  J D Brunzell; J J Albers; A Chait; S M Grundy; E Groszek; G B McDonald
Journal:  J Lipid Res       Date:  1983-02       Impact factor: 5.922

10.  Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.

Authors:  Fernando Civeira; Estibaliz Jarauta; Ana Cenarro; Angel L García-Otín; Diego Tejedor; Daniel Zambón; Miguel Mallen; Emilio Ros; Miguel Pocoví
Journal:  J Am Coll Cardiol       Date:  2008-11-04       Impact factor: 24.094
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  2 in total

1.  A Rare Missense Mutation and a Polymorphism with High Frequency in LDLR Gene among Iranian Patients with Familial Hypercholesterolemia.

Authors:  Masoud Tajamolian; Parisa Kolahdouz; Parvaneh Nikpour; Seyed Khalil Forouzannia; Mohammad Hasan Sheikhha; Ehsan Farashahi Yazd
Journal:  Adv Biomed Res       Date:  2018-02-21

2.  Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia.

Authors:  Say-Hean Lye; Jagdish Kaur Chahil; Pramod Bagali; Livy Alex; Jamunarani Vadivelu; Wan Azman Wan Ahmad; Siew-Pheng Chan; Meow-Keong Thong; Shamsul Mohd Zain; Rosmawati Mohamed
Journal:  PLoS One       Date:  2013-04-08       Impact factor: 3.240
  2 in total

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