BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

436 related articles for article (PubMed ID: 24075752)

  • 1. Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.
    Faiz F; Allcock RJ; Hooper AJ; van Bockxmeer FM
    Atherosclerosis; 2013 Oct; 230(2):249-55. PubMed ID: 24075752
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Detection of pathogenic mutations in Marfan syndrome by targeted next-generation semiconductor sequencing].
    Lu C; Wu W; Xiao J; Meng Y; Zhang S; Zhang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Jun; 30(3):301-4. PubMed ID: 23744319
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
    Nissen PH; Damgaard D; Stenderup A; Nielsen GG; Larsen ML; Faergeman O
    BMC Med Genet; 2006 Jun; 7():55. PubMed ID: 16796766
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diagnostic validation of a familial hypercholesterolaemia cohort provides a model for using targeted next generation DNA sequencing in the clinical setting.
    Hinchcliffe M; Le H; Fimmel A; Molloy L; Freeman L; Sullivan D; Trent RJ
    Pathology; 2014 Jan; 46(1):60-8. PubMed ID: 24300713
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
    Lee WK; Haddad L; Macleod MJ; Dorrance AM; Wilson DJ; Gaffney D; Dominiczak MH; Packard CJ; Day IN; Humphries SE; Dominiczak AF
    J Med Genet; 1998 Jul; 35(7):573-8. PubMed ID: 9678702
    [TBL] [Abstract][Full Text] [Related]  

  • 9. LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.
    Konečná K; Zapletalová P; Freiberger T; Tichý L
    Lipids Health Dis; 2024 Feb; 23(1):36. PubMed ID: 38308247
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Use of next-generation sequencing to detect
    Iacocca MA; Wang J; Dron JS; Robinson JF; McIntyre AD; Cao H; Hegele RA
    J Lipid Res; 2017 Nov; 58(11):2202-2209. PubMed ID: 28874442
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
    Amsellem S; Briffaut D; Carrié A; Rabès JP; Girardet JP; Fredenrich A; Moulin P; Krempf M; Reznik Y; Vialettes B; de Gennes JL; Brukert E; Benlian P
    Hum Genet; 2002 Dec; 111(6):501-10. PubMed ID: 12436241
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing].
    Cao Y; Qu Y; Song F; Bai J; Jin Y; Wang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb; 32(1):16-20. PubMed ID: 25636092
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.
    Jelassi A; Slimani A; Rabès JP; Jguirim I; Abifadel M; Boileau C; Najah M; M'rabet S; Mzid J; Slimane MN; Varret M
    Clin Chim Acta; 2012 Dec; 414():146-51. PubMed ID: 22910581
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.
    Goldmann R; Tichý L; Freiberger T; Zapletalová P; Letocha O; Soska V; Fajkus J; Fajkusová L
    BMC Med Genet; 2010 Jul; 11():115. PubMed ID: 20663204
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.
    Cao YY; Qu YJ; Song F; Zhang T; Bai JL; Jin YW; Wang H
    Mol Genet Metab; 2014 Dec; 113(4):261-6. PubMed ID: 25456745
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.
    Rutkowska L; Pinkier I; Sałacińska K; Kępczyński Ł; Salachna D; Lewek J; Banach M; Matusik P; Starostecka E; Lewiński A; Płoski R; Stawiński P; Gach A
    Genes (Basel); 2022 Aug; 13(8):. PubMed ID: 36011335
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.