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 *

121 related articles for article (PubMed ID: 18700895)

  • 21. 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]  

  • 22. Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
    Futema M; Whittall RA; Kiley A; Steel LK; Cooper JA; Badmus E; Leigh SE; Karpe F; Neil HA; ; Humphries SE
    Atherosclerosis; 2013 Jul; 229(1):161-8. PubMed ID: 23669246
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: integration and evolution of genetic diagnosis.
    Di Taranto MD; D'Agostino MN; Fortunato G
    Nutr Metab Cardiovasc Dis; 2015 Nov; 25(11):979-87. PubMed ID: 26165249
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
    Pek SLT; Dissanayake S; Fong JCW; Lin MX; Chan EZL; Tang JI; Lee CW; Ong HY; Sum CF; Lim SC; Tavintharan S
    Atherosclerosis; 2018 Feb; 269():106-116. PubMed ID: 29353225
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
    Whittall RA; Scartezini M; Li K; Hubbart C; Reiner Z; Abraha A; Neil HA; Dedoussis G; Humphries SE
    Ann Clin Biochem; 2010 Jan; 47(Pt 1):44-55. PubMed ID: 19837725
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.
    Heath KE; Humphries SE; Middleton-Price H; Boxer M
    Eur J Hum Genet; 2001 Apr; 9(4):244-52. PubMed ID: 11313767
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
    Alves AC; Etxebarria A; Soutar AK; Martin C; Bourbon M
    Hum Mol Genet; 2014 Apr; 23(7):1817-28. PubMed ID: 24234650
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia.
    Miltiadous G; Xenophontos S; Bairaktari E; Ganotakis M; Cariolou M; Elisaf M
    Pharmacogenet Genomics; 2005 Apr; 15(4):219-25. PubMed ID: 15864114
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia.
    Wang J; Ban MR; Hegele RA
    J Lipid Res; 2005 Feb; 46(2):366-72. PubMed ID: 15576851
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.
    Norsworthy PJ; Vandrovcova J; Thomas ER; Campbell A; Kerr SM; Biggs J; Game L; Soutar AK; Smith BH; Dominiczak AF; Porteous DJ; Morris AD; Scotland G; Aitman TJ
    BMC Med Genet; 2014 Jun; 15():70. PubMed ID: 24956927
    [TBL] [Abstract][Full Text] [Related]  

  • 33. DIAgnosis and Management Of familial hypercholesterolemia in a Nationwide Design (DIAMOND-FH): Prevalence in Switzerland, clinical characteristics and the diagnostic value of clinical scores.
    Miserez AR; Martin FJ; Spirk D
    Atherosclerosis; 2018 Oct; 277():282-288. PubMed ID: 30270060
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil.
    Molfetta GA; Zanette DL; Santos JE; Silva WA
    Genet Mol Res; 2017 Aug; 16(3):. PubMed ID: 28873201
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland.
    Mickiewicz A; Chmara M; Futema M; Fijalkowski M; Chlebus K; Galaska R; Bandurski T; Pajkowski M; Zuk M; Wasag B; Limon J; Rynkiewicz A; Gruchala M
    Atherosclerosis; 2016 Jun; 249():52-8. PubMed ID: 27062410
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Heterozygous familial hypercholesterolaemia in a pair of identical twins: a case report and updated review.
    Mohd Nor NS; Al-Khateeb AM; Chua YA; Mohd Kasim NA; Mohd Nawawi H
    BMC Pediatr; 2019 Apr; 19(1):106. PubMed ID: 30975109
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).
    Futema M; Cooper JA; Charakida M; Boustred C; Sattar N; Deanfield J; Lawlor DA; Timpson NJ; ; Humphries SE; Hingorani AD
    Atherosclerosis; 2017 May; 260():47-55. PubMed ID: 28349888
    [TBL] [Abstract][Full Text] [Related]  

  • 40. New Horizons in the Pathogenesis, Pathophysiology and Treatment of Familial Hypercholesterolaemia.
    Viigimaa M; Heinsar S; Lovic D; Katsimardou A; Piperidou A; Duishvili D
    Curr Pharm Des; 2018; 24(31):3599-3604. PubMed ID: 30306860
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.