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 *

237 related articles for article (PubMed ID: 24785115)

  • 1. Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.
    Maglio C; Mancina RM; Motta BM; Stef M; Pirazzi C; Palacios L; Askaryar N; Borén J; Wiklund O; Romeo S
    J Intern Med; 2014 Oct; 276(4):396-403. PubMed ID: 24785115
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.
    Razman AZ; Chua YA; Mohd Kasim NA; Al-Khateeb A; Sheikh Abdul Kadir SH; Jusoh SA; Nawawi H;
    Int J Mol Sci; 2022 Nov; 23(23):. PubMed ID: 36499307
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.
    Futema M; Plagnol V; Whittall RA; Neil HA; ; Humphries SE;
    J Med Genet; 2012 Oct; 49(10):644-9. PubMed ID: 23054246
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.
    Radovica-Spalvina I; Latkovskis G; Silamikelis I; Fridmanis D; Elbere I; Ventins K; Ozola G; Erglis A; Klovins J
    BMC Med Genet; 2015 Sep; 16():86. PubMed ID: 26415676
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia.
    Lye SH; Chahil JK; Bagali P; Alex L; Vadivelu J; Ahmad WA; Chan SP; Thong MK; Zain SM; Mohamed R
    PLoS One; 2013; 8(4):e60729. PubMed ID: 23593297
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.
    Al-Allaf FA; Athar M; Abduljaleel Z; Taher MM; Khan W; Ba-Hammam FA; Abalkhail H; Alashwal A
    Gene; 2015 Jul; 565(1):76-84. PubMed ID: 25839937
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
    Humphries SE; Whittall RA; Hubbart CS; Maplebeck S; Cooper JA; Soutar AK; Naoumova R; Thompson GR; Seed M; Durrington PN; Miller JP; Betteridge DJ; Neil HA;
    J Med Genet; 2006 Dec; 43(12):943-9. PubMed ID: 17142622
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia.
    Benedek P; Jiao H; Duvefelt K; Skoog T; Linde M; Kiviluoma P; Kere J; Eriksson M; Angelin B
    J Intern Med; 2021 Aug; 290(2):404-415. PubMed ID: 33955087
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The genetic spectrum of familial hypercholesterolemia in Pakistan.
    Ahmed W; Whittall R; Riaz M; Ajmal M; Sadeque A; Ayub H; Qamar R; Humphries SE
    Clin Chim Acta; 2013 Jun; 421():219-25. PubMed ID: 23535506
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
    Futema M; Plagnol V; Li K; Whittall RA; Neil HA; Seed M; ; Bertolini S; Calandra S; Descamps OS; Graham CA; Hegele RA; Karpe F; Durst R; Leitersdorf E; Lench N; Nair DR; Soran H; Van Bockxmeer FM; ; Humphries SE
    J Med Genet; 2014 Aug; 51(8):537-44. PubMed ID: 24987033
    [TBL] [Abstract][Full Text] [Related]  

  • 16. APOE p.Leu167del mutation in familial hypercholesterolemia.
    Awan Z; Choi HY; Stitziel N; Ruel I; Bamimore MA; Husa R; Gagnon MH; Wang RH; Peloso GM; Hegele RA; Seidah NG; Kathiresan S; Genest J
    Atherosclerosis; 2013 Dec; 231(2):218-22. PubMed ID: 24267230
    [TBL] [Abstract][Full Text] [Related]  

  • 17. No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes.
    Damgaard D; Jensen JM; Larsen ML; Soerensen VR; Jensen HK; Gregersen N; Jensen LG; Faergeman O
    Atherosclerosis; 2004 Dec; 177(2):415-22. PubMed ID: 15530918
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.
    Slimani A; Jelassi A; Jguirim I; Najah M; Rebhi L; Omezzine A; Maatouk F; Hamda KB; Kacem M; Rabès JP; Abifadel M; Boileau C; Rouis M; Slimane MN; Varret M
    Atherosclerosis; 2012 May; 222(1):158-66. PubMed ID: 22417841
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Array-based resequencing for mutations causing familial hypercholesterolemia.
    Chiou KR; Charng MJ; Chang HM
    Atherosclerosis; 2011 Jun; 216(2):383-9. PubMed ID: 21376320
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.