274 related articles for article (PubMed ID: 10735632)
1. Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.
Lombardi MP; Redeker EJ; Defesche JC; Kamerling SW; Trip MD; Mannens MM; Havekes LM; Kastelein JJ
Clin Genet; 2000 Feb; 57(2):116-24. PubMed ID: 10735632
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.
Koivisto UM; Viikari JS; Kontula K
Am J Hum Genet; 1995 Oct; 57(4):789-97. PubMed ID: 7573037
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Genetics and kinetics of familial hypercholesterolemia, with the special focus on FH-(Marburg) p.W556R.
Soufi M; Kurt B; Schweer H; Sattler AM; Klaus G; Zschocke J; Schaefer JR
Atheroscler Suppl; 2009 Dec; 10(5):5-11. PubMed ID: 20129366
[TBL] [Abstract][Full Text] [Related]
10. Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.
Yu W; Nohara A; Higashikata T; Lu H; Inazu A; Mabuchi H
Atherosclerosis; 2002 Dec; 165(2):335-42. PubMed ID: 12417285
[TBL] [Abstract][Full Text] [Related]
11. Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
Grenkowitz T; Kassner U; Wühle-Demuth M; Salewsky B; Rosada A; Zemojtel T; Hopfenmüller W; Isermann B; Borucki K; Heigl F; Laufs U; Wagner S; Kleber ME; Binner P; März W; Steinhagen-Thiessen E; Demuth I
Atherosclerosis; 2016 Oct; 253():88-93. PubMed ID: 27596133
[TBL] [Abstract][Full Text] [Related]
12. Genetic diagnosis with the denaturing gradient gel electrophoresis technique improves diagnostic precision in familial hypercholesterolemia.
Nissen H; Hansen AB; Guldberg P; Petersen NE; Larsen ML; Haghfelt T; Kristiansen K; Hørder M
Circulation; 1995 Mar; 91(6):1641-6. PubMed ID: 7882469
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Genetic analysis of familial hypercholesterolaemia in Western Australia.
Hooper AJ; Nguyen LT; Burnett JR; Bates TR; Bell DA; Redgrave TG; Watts GF; van Bockxmeer FM
Atherosclerosis; 2012 Oct; 224(2):430-4. PubMed ID: 22883975
[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. Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.
Shin JA; Kim SH; Kim UK; Chae JJ; Choe SJ; Namkoong Y; Kim HS; Park YB; Lee CC
Clin Genet; 2000 Mar; 57(3):225-9. PubMed ID: 10782930
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Array-based resequencing for mutations causing familial hypercholesterolemia.
Chiou KR; Charng MJ; Chang HM
Atherosclerosis; 2011 Jun; 216(2):383-9. PubMed ID: 21376320
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.
Peeters AV; Thiart R; de Villiers JN; Jensen HK; Van Gaal LF; Kotze MJ
Mol Cell Probes; 1999 Aug; 13(4):257-60. PubMed ID: 10441197
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
