These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

226 related articles for article (PubMed ID: 21146822)

  • 1. 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;
    Atherosclerosis; 2011 Feb; 214(2):404-7. PubMed ID: 21146822
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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;
    Atherosclerosis; 2014 Sep; 236(1):54-61. PubMed ID: 25014035
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 27816806
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 28235710
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 28104544
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 27596133
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation.
    Noguchi T; Katsuda S; Kawashiri MA; Tada H; Nohara A; Inazu A; Yamagishi M; Kobayashi J; Mabuchi H
    Atherosclerosis; 2010 May; 210(1):166-72. PubMed ID: 20006333
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular characterization of familial hypercholesterolemia in Spain.
    Palacios L; Grandoso L; Cuevas N; Olano-Martín E; Martinez A; Tejedor D; Stef M
    Atherosclerosis; 2012 Mar; 221(1):137-42. PubMed ID: 22244043
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic analysis of familial hypercholesterolaemia in Western Australia.
    Hooper AJ; Nguyen LT; Burnett JR; Bates TR; Bell DA; Redgrave TG; Watts GF; van Bockxmeer FM
    Atherosclerosis; 2012 Oct; 224(2):430-4. PubMed ID: 22883975
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 22417841
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
    Tosi I; Toledo-Leiva P; Neuwirth C; Naoumova RP; Soutar AK
    Atherosclerosis; 2007 Sep; 194(1):102-11. PubMed ID: 17094996
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia.
    Lye SH; Chahil JK; Bagali P; Alex L; Vadivelu J; Ahmad WA; Chan SP; Thong MK; Zain SM; Mohamed R
    PLoS One; 2013; 8(4):e60729. PubMed ID: 23593297
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Array-based resequencing for mutations causing familial hypercholesterolemia.
    Chiou KR; Charng MJ; Chang HM
    Atherosclerosis; 2011 Jun; 216(2):383-9. PubMed ID: 21376320
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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;
    Atheroscler Suppl; 2017 Oct; 29():17-24. PubMed ID: 28965616
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.
    Chater R; Aït Chihab K; Rabès JP; Varret M; Chabraoui L; El Jahiri Y; Adlouni A; Boileau C; Kettani A; El Messal M
    Clin Chim Acta; 2006 Nov; 373(1-2):62-9. PubMed ID: 16806138
    [TBL] [Abstract][Full Text] [Related]  

  • 16. No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes.
    Damgaard D; Jensen JM; Larsen ML; Soerensen VR; Jensen HK; Gregersen N; Jensen LG; Faergeman O
    Atherosclerosis; 2004 Dec; 177(2):415-22. PubMed ID: 15530918
    [TBL] [Abstract][Full Text] [Related]  

  • 17. LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.
    Snozek CL; Lagerstedt SA; Khoo TK; Rubenfire M; Isley WL; Train LJ; Baudhuin LM
    Eur J Hum Genet; 2009 Jan; 17(1):85-90. PubMed ID: 18648394
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
    Chiou KR; Charng MJ
    Am J Cardiol; 2010 Jun; 105(12):1752-8. PubMed ID: 20538126
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The genetic spectrum of familial hypercholesterolemia in Pakistan.
    Ahmed W; Whittall R; Riaz M; Ajmal M; Sadeque A; Ayub H; Qamar R; Humphries SE
    Clin Chim Acta; 2013 Jun; 421():219-25. PubMed ID: 23535506
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 26160041
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.