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 *

249 related articles for article (PubMed ID: 11700734)

  • 1. Rapid sizing of microsatellite alleles by gel electrophoresis on microfabricated channels: application to the D19S394 tetranucleotide repeat for cosegregation study of familial hypercholesterolemia.
    Cantàfora A; Blotta I; Bruzzese N; Calandra S; Bertolini S
    Electrophoresis; 2001 Oct; 22(18):4012-5. PubMed ID: 11700734
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Quantitative polymerase chain reaction and microchip electrophoresis to detect major rearrangements of the low-density lipoprotein receptor gene causing familial hypercholesterolemia.
    Cantafora A; Blotta I; Pino E; Pisciotta L; Calandra S; Bertolini S
    Electrophoresis; 2004 Nov; 25(21-22):3882-9. PubMed ID: 15565673
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Deletions of the low density lipoprotein receptor gene underlying familial hypercholesterolaemia: screening by polymerase chain reaction using pooled DNA and blood samples.
    Vuorio AF; Paulin L; Turtola H; Kontula K
    Mol Cell Probes; 1997 Feb; 11(1):65-70. PubMed ID: 9076717
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A modified conformation sensitive gel electrophoresis (CSGE) method for rapid and accurate detection of low density lipoprotein (LDL) receptor gene mutations in Familial Hypercholesterolemia.
    Fard-Esfahani P; Khatami S; Zeinali C; Taghikhani M; Allahyari M
    Clin Biochem; 2005 Jun; 38(6):579-83. PubMed ID: 15885240
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].
    Liu YR; Tao QM; Chen JZ; Tao M; Guo XG; Shang YP; Zhu JH; Zhang FR; Zheng LR; Wang XX
    Sheng Li Xue Bao; 2004 Oct; 56(5):566-72. PubMed ID: 15497035
    [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. Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia.
    Cefalù AB; Emmanuele G; Marino G; Fiore B; Caldarella R; Vivona N; Noto D; Barbagallo CM; Costa S; Gueli MC; Bertolini S; Notarbartolo A; Travali S; Averna MR
    Nutr Metab Cardiovasc Dis; 2001 Dec; 11(6):394-400. PubMed ID: 12055704
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. [Evaluation of a newly discovered LDL receptor mutation (exon 10, GAC>AAC, D271N, "FH Graz-1") in familial hypercholesterolemia-- a familystudy].
    de Campo A; Toplak H; Wascher TC; Schallmoser K; Friehs A; Schmidt H; Kostner GM
    Acta Med Austriaca; 1999; 26(1):20-5. PubMed ID: 10230472
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [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]  

  • 12. Homozygous DNA variants in exon 9 of the LDL receptor gene in a Thai patient with primary hypercholesterolemia phenotype.
    Pongrapeeporn K; Yamwong P; Nuchpramool W; Sribhen K; Thepsuriyanon P; Leowattana W; Ong-Ajyooth S
    J Med Assoc Thai; 2001 Dec; 84 Suppl 3():S690-5. PubMed ID: 12002911
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Development of a microsatellite-based approach to co-segregation analysis of familial hypercholesterolaemic kindreds.
    Haddad L; Day LB; Attwood J; Povey S; Humphries SE; Day IN
    Ann Hum Genet; 1997 Nov; 61(Pt 6):497-506. PubMed ID: 9543550
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online.
    Hattori H; Nagano M; Iwata F; Homma Y; Egashira T; Okada T
    Hum Mutat; 1999; 14(1):87. PubMed ID: 10447263
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy.
    Liguori R; Bianco AM; Argiriou A; Pauciullo P; Giannino A; Rubba P; De Simone V
    Hum Mutat; 2001 May; 17(5):433. PubMed ID: 11317362
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population.
    Vergotine J; Thiart R; Langenhoven E; Hillermann R; De Jong G; Kotze MJ
    Genet Couns; 2001; 12(2):121-7. PubMed ID: 11491306
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction.
    Cantafora A; Blotta I; Mercuri E; Calandra S; Bertolini S
    J Lipid Res; 1998 May; 39(5):1101-5. PubMed ID: 9610778
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The molecular basis of familial hypercholesterolemia in The Netherlands.
    Fouchier SW; Defesche JC; Umans-Eckenhausen MW; Kastelein JP
    Hum Genet; 2001 Dec; 109(6):602-15. PubMed ID: 11810272
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.