6206 related articles for article (PubMed ID: 12553167)
1. 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]
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. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
4. Familial defective apolipoprotein B-100.
Hansen PS
Dan Med Bull; 1998 Sep; 45(4):370-82. PubMed ID: 9777289
[TBL] [Abstract][Full Text] [Related]
5. Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population.
Assouline L; Levy E; Feoli-Fonseca JC; Godbout C; Lambert M
Pediatrics; 1995 Aug; 96(2 Pt 1):239-46. PubMed ID: 7630677
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Familial hypercholesterolemia and familial defective apolipoprotein B-100: comparison of the phenotypic expression In 116 cases.
Brugger D; Schuster H; Zöllner N
Eur J Med Res; 1996 May; 1(8):383-6. PubMed ID: 9360938
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
Real JT; Chaves FJ; Ejarque I; García-García AB; Valldecabres C; Ascaso JF; Armengod ME; Carmena R
Eur J Hum Genet; 2003 Dec; 11(12):959-65. PubMed ID: 14508510
[TBL] [Abstract][Full Text] [Related]
11. Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary results.
Bourbon M; Rato Q;
Rev Port Cardiol; 2006 Nov; 25(11):999-1013. PubMed ID: 17274457
[TBL] [Abstract][Full Text] [Related]
12. Genetic aspects of familial hypercholesterolemia and its diagnosis.
Motulsky AG
Arteriosclerosis; 1989; 9(1 Suppl):I3-7. PubMed ID: 2563220
[TBL] [Abstract][Full Text] [Related]
13. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review.
Austin MA; Hutter CM; Zimmern RL; Humphries SE
Am J Epidemiol; 2004 Sep; 160(5):407-20. PubMed ID: 15321837
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk.
Fouchier SW; Defesche JC; Kastelein JJ; Sijbrands EJ
Semin Vasc Med; 2004 Aug; 4(3):259-64. PubMed ID: 15630635
[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. 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]
18. LDL-receptor mutations in Europe.
Dedoussis GV; Schmidt H; Genschel J
Hum Mutat; 2004 Dec; 24(6):443-59. PubMed ID: 15523646
[TBL] [Abstract][Full Text] [Related]
19. [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]
20. Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.
Jensen HK; Jensen LG; Meinertz H; Hansen PS; Gregersen N; Faergeman O
Atherosclerosis; 1999 Oct; 146(2):337-44. PubMed ID: 10532689
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
