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 *

234 related articles for article (PubMed ID: 16159606)

  • 1. Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.
    Graham CA; McIlhatton BP; Kirk CW; Beattie ED; Lyttle K; Hart P; Neely RD; Young IS; Nicholls DP
    Atherosclerosis; 2005 Oct; 182(2):331-40. PubMed ID: 16159606
    [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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.
    Diakou M; Miltiadous G; Xenophontos SL; Manoli P; Cariolou MA; Elisaf M
    Eur J Intern Med; 2011 Oct; 22(5):e55-9. PubMed ID: 21925044
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Identification of a novel splice mutation of low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia].
    Lin J; Wang LY; Liu S; Pan XD; Du LP; Shi FR; Qin YW; Zhao Q; Guo HY
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):14-8. PubMed ID: 14767901
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.
    Kulseth MA; Berge KE; Bogsrud MP; Leren TP
    J Hum Genet; 2010 Oct; 55(10):676-80. PubMed ID: 20703241
    [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. Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate.
    Lombardi MP; Redeker EJ; van Gent DH; Smeele KL; Weerdesteijn R; Mannens MM
    Genet Test; 2006; 10(2):77-84. PubMed ID: 16792510
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland.
    Ho CK; Stirling D; Hannant W; Walker SW
    Scott Med J; 2012 Aug; 57(3):148-51. PubMed ID: 22859806
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.
    Cameron J; Holla ØL; Kulseth MA; Leren TP; Berge KE
    Clin Chim Acta; 2009 May; 403(1-2):131-5. PubMed ID: 19361455
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Molecular characterization of familial hypercholesterolemia in German and Greek patients.
    Dedoussis GV; Genschel J; Bochow B; Pitsavos C; Skoumas J; Prassa M; Lkhagvasuren S; Toutouzas P; Vogt A; Kassner U; Thomas HP; Schmidt H
    Hum Mutat; 2004 Mar; 23(3):285-6. PubMed ID: 14974088
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
    Etxebarria A; Palacios L; Stef M; Tejedor D; Uribe KB; Oleaga A; Irigoyen L; Torres B; Ostolaza H; Martin C
    Hum Mutat; 2012 Jan; 33(1):232-43. PubMed ID: 21990180
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
    Real JT; Chaves FJ; Ejarque I; García-García AB; Valldecabres C; Ascaso JF; Armengod ME; Carmena R
    Eur J Hum Genet; 2003 Dec; 11(12):959-65. PubMed ID: 14508510
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
    Mozas P; Castillo S; Tejedor D; Reyes G; Alonso R; Franco M; Saenz P; Fuentes F; Almagro F; Mata P; Pocoví M
    Hum Mutat; 2004 Aug; 24(2):187. PubMed ID: 15241806
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.