BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 10090473)

  • 1. Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.
    Rødningen OK; Tonstad S; Saugstad OD; Ose L; Leren TP
    Hum Mutat; 1999; 13(3):186-96. PubMed ID: 10090473
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA.
    Rødningen OK; Tonstad S; Ose L; Berg K; Leren TP
    Hum Mutat; 1998; 12(2):95-102. PubMed ID: 9671270
    [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. Nonsense-mediated decay of human LDL receptor mRNA.
    Holla ØL; Kulseth MA; Berge KE; Leren TP; Ranheim T
    Scand J Clin Lab Invest; 2009; 69(3):409-17. PubMed ID: 19148831
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.
    Xie L; Gong QH; Xie ZG; Liang ZM; Hu ZM; Xia K; Xia JH; Yang YF
    Chin Med J (Engl); 2007 Oct; 120(19):1694-9. PubMed ID: 17935672
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
    Tzetis M; Efthymiadou A; Doudounakis S; Kanavakis E
    Hum Genet; 2001 Dec; 109(6):592-601. PubMed ID: 11810271
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.
    Fernandes MJ; Hechtman P; Boulay B; Kaplan F
    Eur J Hum Genet; 1997; 5(3):129-36. PubMed ID: 9272736
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
    Kuhrová V; Francová H; Zapletalová P; Freiberger T; Fajkusová L; Hrabincová E; Slováková R; Kozák L
    Hum Mutat; 2001 Sep; 18(3):253. PubMed ID: 11524740
    [TBL] [Abstract][Full Text] [Related]  

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

  • 11. 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]  

  • 12. The association of nonsense mutation with exon-skipping in hprt mRNA of Chinese hamster ovary cells results from an artifact of RT-PCR.
    Valentine CR; Heflich RH
    RNA; 1997 Jun; 3(6):660-76. PubMed ID: 9174100
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.
    Peeters AV; Thiart R; de Villiers JN; Jensen HK; Van Gaal LF; Kotze MJ
    Mol Cell Probes; 1999 Aug; 13(4):257-60. PubMed ID: 10441197
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.
    Jensen HK; Jensen TG; Faergeman O; Jensen LG; Andresen BS; Corydon MJ; Andreasen PH; Hansen PS; Heath F; Bolund L; Gregersen N
    Hum Mutat; 1997; 9(5):437-44. PubMed ID: 9143924
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.
    Cefalù AB; Barraco G; Noto D; Valenti V; Barbagallo CM; Elisir GD; Cuniberti LA; Werba JP; Libra M; Costa S; Gianguzza F; Notarbartolo A; Travali S; Averna MR
    Int J Mol Med; 2006 Mar; 17(3):539-46. PubMed ID: 16465405
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.
    Freddi S; Savarirayan R; Bateman JF
    Am J Med Genet; 2000 Feb; 90(5):398-406. PubMed ID: 10706362
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.
    Yeowell HN; Walker LC
    Proc Assoc Am Physicians; 1997 Jul; 109(4):383-96. PubMed ID: 9220536
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.
    Dall'Osso C; Guella I; Duga S; Locatelli N; Paraboschi EM; Spreafico M; Afrasiabi A; Pechlaner C; Peyvandi F; Tenchini ML; Asselta R
    Haematologica; 2008 Oct; 93(10):1505-13. PubMed ID: 18728029
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.
    Nakamura K; Fukao T; Perez-Cerda C; Luque C; Song XQ; Naiki Y; Kohno Y; Ugarte M; Kondo N
    Mol Genet Metab; 2001 Feb; 72(2):115-21. PubMed ID: 11161837
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.