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 *

714 related articles for article (PubMed ID: 20129366)

  • 1. Genetics and kinetics of familial hypercholesterolemia, with the special focus on FH-(Marburg) p.W556R.
    Soufi M; Kurt B; Schweer H; Sattler AM; Klaus G; Zschocke J; Schaefer JR
    Atheroscler Suppl; 2009 Dec; 10(5):5-11. PubMed ID: 20129366
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).
    Schaefer JR; Kurt B; Sattler A; Klaus G; Soufi M
    Clin Res Cardiol Suppl; 2012 Jun; 7(Suppl 1):2-6. PubMed ID: 22528129
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK
    Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 11310584
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
    Azian M; Hapizah MN; Khalid BA; Khalid Y; Rosli A; Jamal R
    Malays J Pathol; 2006 Jun; 28(1):7-15. PubMed ID: 17694954
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].
    Liu YR; Tao QM; Chen JZ; Tao M; Guo XG; Shang YP; Zhu JH; Zhang FR; Zheng LR; Wang XX
    Sheng Li Xue Bao; 2004 Oct; 56(5):566-72. PubMed ID: 15497035
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations.
    Torres AL; Moorjani S; Vohl MC; Gagné C; Lamarche B; Brun LD; Lupien PJ; Després JP
    Atherosclerosis; 1996 Sep; 126(1):163-71. PubMed ID: 8879444
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population.
    Assouline L; Levy E; Feoli-Fonseca JC; Godbout C; Lambert M
    Pediatrics; 1995 Aug; 96(2 Pt 1):239-46. PubMed ID: 7630677
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.
    Shawar SM; Al-Drees MA; Ramadan AR; Ali NH; Alfadhli SM
    Atherosclerosis; 2012 Feb; 220(2):429-36. PubMed ID: 22129472
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
    Tichý L; Freiberger T; Zapletalová P; Soška V; Ravčuková B; Fajkusová L
    Atherosclerosis; 2012 Aug; 223(2):401-8. PubMed ID: 22698793
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.
    Soufi M; Rust S; Walter M; Schaefer JR
    Gene; 2013 May; 521(1):200-3. PubMed ID: 23510778
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Lack of evidence for reduced plasma apo B48 catabolism in patients with heterozygous familial hypercholesterolemia carrying the same null LDL receptor gene mutation.
    Tremblay AJ; Lamarche B; Ruel I; Hogue JC; Bergeron J; Gagné C; Couture P
    Atherosclerosis; 2004 Feb; 172(2):367-73. PubMed ID: 15019548
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
    Wang J; Huff E; Janecka L; Hegele RA
    Hum Mutat; 2001 Oct; 18(4):359. PubMed ID: 11668627
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Effects of fenofibrate on apolipoprotein kinetics in patients with coexisting dysbetalipoproteinemia and heterozygous familial hypercholesterolemia.
    Tremblay AJ; Lamarche B; Ruel IL; Hogue JC; Deshaies Y; Gagné C; Couture P
    Atherosclerosis; 2006 Sep; 188(1):203-12. PubMed ID: 16337207
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Low-density lipoprotein levels and not mutation status predict intima-media thickness in familial hypercholesterolemia.
    Fahed AC; Habib RH; Nemer GM; Azar ST; Andary RR; Arabi MT; Moubarak EM; Bitar FF; Haddad FF
    Ann Vasc Surg; 2014 Feb; 28(2):421-6. PubMed ID: 24120234
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.
    López G; Bernal LM; Gelvez N; Gómez LF; Nova A; Sánchez AI; Tamayo ML
    Atherosclerosis; 2018 Oct; 277():434-439. PubMed ID: 30270082
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease.
    Castillo S; Reyes G; Tejedor D; Mozas P; Suarez Y; Lasuncion MA; Cenarro A; Civeira F; Alonso R; Mata P; Pocovi M;
    Hum Mutat; 2002 Dec; 20(6):477. PubMed ID: 12442279
    [TBL] [Abstract][Full Text] [Related]  

  • 19. First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene.
    Al-Hinai AT; Al-Abri A; Al-Dhuhli H; Al-Waili K; Al-Sabti H; Al-Yaarubi S; Al-Hashmi K; Banerjee Y; Al-Zakwani I; Al-Rasadi K
    Angiology; 2013 May; 64(4):287-92. PubMed ID: 23162007
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.
    Santos PC; Morgan AC; Jannes CE; Turolla L; Krieger JE; Santos RD; Pereira AC
    Atherosclerosis; 2014 Mar; 233(1):206-10. PubMed ID: 24529145
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 36.