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 *

105 related articles for article (PubMed ID: 9383100)

  • 1. Flow cytometric measurement of low density lipoprotein receptor activity validated by DNA analysis in diagnosing heterozygous familial hypercholesterolemia.
    Urdal P; Leren TP; Tonstad S; Lund PK; Ose L
    Cytometry; 1997 Oct; 30(5):264-8. PubMed ID: 9383100
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [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]  

  • 4. Standardization of a flow cytometric method for measurement of low-density lipoprotein receptor activity on blood mononuclear cells.
    Løhne K; Urdal P; Leren TP; Tonstad S; Ose L
    Cytometry; 1995 Aug; 20(4):290-5. PubMed ID: 7587716
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Identification of low density lipoprotein receptor abnormalities by assaying functional receptors on proliferating lymphocytes.
    Cuthbert JA; Lipsky PE
    Arteriosclerosis; 1989; 9(1 Suppl):I43-9. PubMed ID: 2912432
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel LDLR mutation, H190Y, in a Utah kindred with familial hypercholesterolemia.
    Hopkins PN; Wu LL; Stephenson SH; Xin Y; Katsumata H; Nobe Y; Nakajima T; Hirayama T; Emi M; Williams RR
    J Hum Genet; 1999; 44(6):364-7. PubMed ID: 10570905
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic aspects of familial hypercholesterolemia and its diagnosis.
    Motulsky AG
    Arteriosclerosis; 1989; 9(1 Suppl):I3-7. PubMed ID: 2563220
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C-->T mutation of low-density lipoprotein receptor gene.
    Lin J; Wang LY; Liu S; Xia JH; Yong Q; Du LP; Pan XD; Xue H; Chen BS; Jiang ZS
    Chin Med J (Engl); 2008 May; 121(9):776-81. PubMed ID: 18701038
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients].
    Guan X; Li M; Fan L; Chen Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr; 20(2):138-42. PubMed ID: 12673584
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia.
    Civeira F; Ros E; Jarauta E; Plana N; Zambon D; Puzo J; Martinez de Esteban JP; Ferrando J; Zabala S; Almagro F; Gimeno JA; Masana L; Pocovi M
    Am J Cardiol; 2008 Nov; 102(9):1187-93, 1193.e1. PubMed ID: 18940289
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Assessment of functional low-density lipoprotein receptor activity on lymphocytes of normal subjects and patients with familial hypercholesterolemia.
    Cuthbert JA; Lipsky PE
    Trans Assoc Am Physicians; 1988; 101():1-11. PubMed ID: 3269672
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population.
    Vergotine J; Thiart R; Langenhoven E; Hillermann R; De Jong G; Kotze MJ
    Genet Couns; 2001; 12(2):121-7. PubMed ID: 11491306
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A rapid flow cytometric assay for low-density lipoprotein receptors in human peripheral blood mononuclear cells.
    Ranganathan S; Hattori H; Kashyap ML
    J Lab Clin Med; 1995 Apr; 125(4):479-86. PubMed ID: 7706903
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
    Zakharova FM; Damgaard D; Mandelshtam MY; Golubkov VI; Nissen PH; Nilsen GG; Stenderup A; Lipovetsky BM; Konstantinov VO; Denisenko AD; Vasilyev VB; Faergeman O
    BMC Med Genet; 2005 Feb; 6():6. PubMed ID: 15701167
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family].
    Cheng XH; Zheng F; Zhou X; Xiong CL; Ding J; Chen YM
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):55-8. PubMed ID: 18247305
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations.
    Tybjaerg-Hansen A; Jensen HK; Benn M; Steffensen R; Jensen G; Nordestgaard BG
    Arterioscler Thromb Vasc Biol; 2005 Jan; 25(1):211-5. PubMed ID: 15528480
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detection of familial hypercholesterolemia by assaying functional low-density-lipoprotein receptors on lymphocytes.
    Cuthbert JA; East CA; Bilheimer DW; Lipsky PE
    N Engl J Med; 1986 Apr; 314(14):879-83. PubMed ID: 3633381
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.