BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 9090532)

  • 1. A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation.
    Mavroidis N; Traeger-Synodinos J; Kanavakis E; Drogari E; Matsaniotis N; Humphries SE; Day IN; Kattamis C
    Hum Mutat; 1997; 9(3):274-6. PubMed ID: 9090532
    [No Abstract]   [Full Text] [Related]  

  • 2. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.
    Wang D; Wu B; Li Y; Heng W; Zhong H; Mu Y; Wang J
    J Hum Genet; 2001; 46(3):152-4. PubMed ID: 11310584
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Four new mutations and polymorphic variants of the low density lipoprotein receptor in patients with familial hypercholesterolemia in Saint Petersburg].
    Tatishcheva IuA; Mandel'shtam MIu; Golubkov VI; Lipovetskiĭ BM; Gaĭtskhoki VS
    Genetika; 2001 Sep; 37(9):1290-5. PubMed ID: 11642133
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studies.
    Assouline L; Leitersdorf E; Lambert M; Reshef A; Feoli-Fonseca JC; Levy E
    Hum Mutat; 1997; 9(6):555-62. PubMed ID: 9195230
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.
    Callis M; Jansen S; Thiart R; de Villiers JN; Raal FJ; Kotze MJ
    Mol Cell Probes; 1998 Jun; 12(3):149-52. PubMed ID: 9664576
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.
    Miltiadous G; Elisaf M; Bairaktari H; Xenophontos SL; Manoli P; Cariolou MA
    Hum Mutat; 2001 May; 17(5):432-3. PubMed ID: 11317361
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [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]  

  • 8. Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.
    Cenarro A; Jensen HK; Casao E; Civeira F; González-Bonillo J; Rodríguez-Rey JC; Gregersen N; Pocoví M
    Hum Mutat; 1998; 11(5):413. PubMed ID: 10206683
    [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. [Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients].
    Guan X; Li M; Fan L; Chen Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr; 20(2):138-42. PubMed ID: 12673584
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.
    Tricot-Guerber F; Saint-Jore B; Valenti K; Foulon T; Bost M; Hadjian AJ
    Hum Mutat; 1995; 6(1):87-8. PubMed ID: 7550239
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. Molecular characterization of familial hypercholesterolemia in German and Greek patients.
    Dedoussis GV; Genschel J; Bochow B; Pitsavos C; Skoumas J; Prassa M; Lkhagvasuren S; Toutouzas P; Vogt A; Kassner U; Thomas HP; Schmidt H
    Hum Mutat; 2004 Mar; 23(3):285-6. PubMed ID: 14974088
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.
    Hattori H; Hirayama T; Nobe Y; Nagano M; Kujiraoka T; Egashira T; Ishii J; Tsuji M; Emi M
    J Hum Genet; 2002; 47(2):80-7. PubMed ID: 11916007
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. [Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family].
    Cheng XH; Zheng F; Zhou X; Xiong CL; Ding J; Chen YM
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):55-8. PubMed ID: 18247305
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
    Hirayama T; Yamaki E; Hata A; Tsuji M; Hashimoto K; Yamamoto M; Emi M
    J Hum Genet; 1998; 43(4):250-4. PubMed ID: 9852677
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.