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 *

140 related articles for article (PubMed ID: 9631093)

  • 1. Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia.
    Baron H; Fung S; Aydin A; Bähring S; Luft FC; Schuster H
    Nat Biotechnol; 1996 Oct; 14(10):1279-82. PubMed ID: 9631093
    [TBL] [Abstract][Full Text] [Related]  

  • 2. DNA diagnosis of familial hypercholesterolemia.
    Schuster H
    Eur J Med Res; 1998 Feb; 3(1-2):42-4. PubMed ID: 9512966
    [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. 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]  

  • 5. An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
    Dušková L; Kopečková L; Jansová E; Tichý L; Freiberger T; Zapletalová P; Soška V; Ravčuková B; Fajkusová L
    Atherosclerosis; 2011 May; 216(1):139-45. PubMed ID: 21310417
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
    Brusgaard K; Jordan P; Hansen H; Hansen AB; Hørder M
    Clin Genet; 2006 Mar; 69(3):277-83. PubMed ID: 16542394
    [TBL] [Abstract][Full Text] [Related]  

  • 7. High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.
    Liyanage KE; Hooper AJ; Defesche JC; Burnett JR; van Bockxmeer FM
    Ann Clin Biochem; 2008 Mar; 45(Pt 2):170-6. PubMed ID: 18325181
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Application of gene technology in the diagnosis of familial hypercholesterolemia].
    Leren TP; Bakken KS; Rødningen OK; Gundersen KE; Sundvold H; Berg K; Tonstad S; Ose L
    Tidsskr Nor Laegeforen; 1997 Feb; 117(5):678-81. PubMed ID: 9102960
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Direct detection of mutations in the LDL receptor gene in patients with familial hypercholesterolemia].
    Freiberger T; Kuhrová V; Kozák L; Soska V; Pekarík V; Mĕrínská L; Fajkusová L; Francová H
    Cas Lek Cesk; 1998 Dec; 137(24):750-2. PubMed ID: 10081189
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Familial hypercholesterolemia].
    Turpin G; Bruckert E
    Ann Med Interne (Paris); 1999 Dec; 150(8):605-14. PubMed ID: 10686642
    [TBL] [Abstract][Full Text] [Related]  

  • 11. FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.
    Dedoussis GV; Skoumas J; Pitsavos C; Choumerianou DM; Genschel J; Schmidt H; Stefanadis C
    Eur J Clin Invest; 2004 Jun; 34(6):402-9. PubMed ID: 15200491
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
    Fouchier SW; Kastelein JJ; Defesche JC
    Hum Mutat; 2005 Dec; 26(6):550-6. PubMed ID: 16250003
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk.
    Fouchier SW; Defesche JC; Kastelein JJ; Sijbrands EJ
    Semin Vasc Med; 2004 Aug; 4(3):259-64. PubMed ID: 15630635
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
    Takada D; Emi M; Ezura Y; Nobe Y; Kawamura K; Iino Y; Katayama Y; Xin Y; Wu LL; Larringa-Shum S; Stephenson SH; Hunt SC; Hopkins PN
    J Hum Genet; 2002; 47(12):656-64. PubMed ID: 12522687
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Application of DNA analysis for differential diagnosis of familial hypercholesterolemia and familial defect of apolipoprotein b-100].
    Krapivner SR; Malyshev PP; Rozhkova TA; Potaraus AB; Kukharchuk VV; Bochkov VN
    Ter Arkh; 2000; 72(4):9-12. PubMed ID: 10833789
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.
    Ebhardt M; Schmidt H; Doerk T; Tietge U; Haas R; Manns MP; Schmidtke J; Stuhrmann M
    Hum Mutat; 1999; 13(3):257. PubMed ID: 10090484
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.
    Callis M; Jansen S; Thiart R; de Villiers JN; Raal FJ; Kotze MJ
    Mol Cell Probes; 1998 Jun; 12(3):149-52. PubMed ID: 9664576
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial defective apolipoprotein B-100.
    Hansen PS
    Dan Med Bull; 1998 Sep; 45(4):370-82. PubMed ID: 9777289
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular testing for familial hypercholesterolaemia-associated mutations in a UK-based cohort: development of an NGS-based method and comparison with multiplex polymerase chain reaction and oligonucleotide arrays.
    Reiman A; Pandey S; Lloyd KL; Dyer N; Khan M; Crockard M; Latten MJ; Watson TL; Cree IA; Grammatopoulos DK
    Ann Clin Biochem; 2016 Nov; 53(6):654-662. PubMed ID: 26748104
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia.
    Cefalù AB; Emmanuele G; Marino G; Fiore B; Caldarella R; Vivona N; Noto D; Barbagallo CM; Costa S; Gueli MC; Bertolini S; Notarbartolo A; Travali S; Averna MR
    Nutr Metab Cardiovasc Dis; 2001 Dec; 11(6):394-400. PubMed ID: 12055704
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.