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 *

167 related articles for article (PubMed ID: 15556093)

  • 1. Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis.
    Sozen M; Whittall R; Humphries SE
    Atheroscler Suppl; 2004 Dec; 5(5):7-11. PubMed ID: 15556093
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. The molecular basis of familial hypercholesterolaemia in Turkish patients.
    Sözen MM; Whittall R; Oner C; Tokatli A; Kalkanoğlu HS; Dursun A; Coşkun T; Oner R; Humphries SE
    Atherosclerosis; 2005 May; 180(1):63-71. PubMed ID: 15823276
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene.
    Solberg K; Rødningen OK; Tonstad S; Ose L; Leren TP
    Scand J Clin Lab Invest; 1994 Dec; 54(8):605-9. PubMed ID: 7709162
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Increasing the sensitivity of single-strand conformation polymorphism analysis of the LDLR gene mutations in brazilian patients with familial hypercholesterolemia.
    Salazar LA; Hirata MH; Hirata RD
    Clin Chem Lab Med; 2002 May; 40(5):441-5. PubMed ID: 12113284
    [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. Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.
    Bunn CF; Lintott CJ; Scott RS; George PM
    Hum Mutat; 2002 Mar; 19(3):311. PubMed ID: 11857755
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. 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]  

  • 12. Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.
    Thiart R; Scholtz CL; Vergotine J; Hoogendijk CF; de Villiers JN; Nissen H; Brusgaard K; Gaffney D; Hoffs MS; Vermaak WJ; Kotze MJ
    J Med Genet; 2000 Jul; 37(7):514-9. PubMed ID: 10882754
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
    Muller PY; Miserez AR
    Atheroscler Suppl; 2004 Dec; 5(5):1-5. PubMed ID: 15556092
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population.
    Arráiz N; Bermúdez V; Rondon N; Reyes F; Borjas L; Solís E; Mujica E; Prieto C; Reyna N; Velasco M
    Am J Ther; 2010; 17(3):325-9. PubMed ID: 20019594
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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]  

  • 17. Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.
    Loux N; Saint-Jore B; Collod G; Dairou F; Benlian P; Truffert J; Dastugue B; Douste-Blazy P; de Gennes JL; Junien C
    Hum Mutat; 1992; 1(4):325-32. PubMed ID: 1301940
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Japanese familial hypercholesterolaemia with a 327insC mutation in the LDL receptor gene.
    Hirota R; Kubo N; Hikiji K; Nakajima K; Hata Y; Sakurabayashi I
    Ann Clin Biochem; 2002 Sep; 39(Pt 5):526-30. PubMed ID: 12227864
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene.
    Whittall R; Gudnason V; Weavind GP; Day LB; Humphries SE; Day IN
    J Med Genet; 1995 Jul; 32(7):509-15. PubMed ID: 7562961
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 9.