BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 11295843)

  • 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. [Identification of novel missense mutation G571E, novel silent mutation H229H, nonsense mutation C74X, and four single nucleotide polymorphisms in the low-density lipoprotein receptor in patients with familial hypercholesterolemia from St. Petersburg].
    Zakharova FM; Golubkov VI; Mandel'shtam MIu; Lipovetskiĭ BM; Gaĭtskhoki VS
    Bioorg Khim; 2001; 27(5):393-6. PubMed ID: 11641914
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
    Kuhrová V; Francová H; Zapletalová P; Freiberger T; Fajkusová L; Hrabincová E; Slováĉková R; Kozák L; Slováková R
    Hum Mutat; 2002 Jan; 19(1):80. PubMed ID: 11754108
    [TBL] [Abstract][Full Text] [Related]  

  • 24. NMR structure and backbone dynamics of a concatemer of epidermal growth factor homology modules of the human low-density lipoprotein receptor.
    Kurniawan ND; Aliabadizadeh K; Brereton IM; Kroon PA; Smith R
    J Mol Biol; 2001 Aug; 311(2):341-56. PubMed ID: 11478865
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease.
    Castillo S; Reyes G; Tejedor D; Mozas P; Suarez Y; Lasuncion MA; Cenarro A; Civeira F; Alonso R; Mata P; Pocovi M;
    Hum Mutat; 2002 Dec; 20(6):477. PubMed ID: 12442279
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia.
    Chen K; Mu YM; Wang BA; Guo QH; Lu ZH; Dou JT; Lu JM
    Metabolism; 2007 May; 56(5):636-40. PubMed ID: 17445538
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Heterozygous familial hypercholesterolemia: a new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia.
    Widhalm K; Iro C; Lindemayr A; Schmidt H; Kostner G
    Hum Mutat; 1999 Oct; 14(4):357. PubMed ID: 10502834
    [No Abstract]   [Full Text] [Related]  

  • 31. Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
    Takada D; Emi M; Ezura Y; Nobe Y; Kawamura K; Iino Y; Katayama Y; Xin Y; Wu LL; Larringa-Shum S; Stephenson SH; Hunt SC; Hopkins PN
    J Hum Genet; 2002; 47(12):656-64. PubMed ID: 12522687
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Abnormality of LDL receptor genes in familial hypercholesterolemia and the genetic diagnosis].
    Kajinami K; Koizumi J; Mabuchi H; Takeda R
    Nihon Rinsho; 1988 Sep; 46(9):2067-77. PubMed ID: 2907355
    [No Abstract]   [Full Text] [Related]  

  • 33. Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C-->T mutation of low-density lipoprotein receptor gene.
    Lin J; Wang LY; Liu S; Xia JH; Yong Q; Du LP; Pan XD; Xue H; Chen BS; Jiang ZS
    Chin Med J (Engl); 2008 May; 121(9):776-81. PubMed ID: 18701038
    [TBL] [Abstract][Full Text] [Related]  

  • 34. FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.
    Dedoussis GV; Skoumas J; Pitsavos C; Choumerianou DM; Genschel J; Schmidt H; Stefanadis C
    Eur J Clin Invest; 2004 Jun; 34(6):402-9. PubMed ID: 15200491
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Familial hypercholesterolemia in St. Petersburg: diversity of mutations argues against a strong founder effect].
    Zakharova FM; Tatishcheva IuA; Golubkov VI; Lipovetskiĭ BM; Konstantinov VO; Denisenko AD; Faergeman O; Vasil'ev VB; Mandel'shtam MIu
    Genetika; 2007 Sep; 43(9):1255-62. PubMed ID: 17990524
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.
    Schmidt HH; Tietge UJ; Buettner J; Barg-Hock H; Offner G; Schweitzer S; Dedoussis GV; Rodeck B; Kallfelz HC; Schlitt HJ; Oldhafer K; Klempnauer J
    Clin Transplant; 2008; 22(2):180-4. PubMed ID: 18339137
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [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]  

  • 39. 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]  

  • 40. A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia.
    Smith AJ; Ahmed F; Nair D; Whittall R; Wang D; Taylor A; Norbury G; Humphries SE
    Eur J Hum Genet; 2007 Nov; 15(11):1186-9. PubMed ID: 17625505
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.