373 related articles for article (PubMed ID: 18757057)
1. Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.
Jelassi A; Jguirim I; Najah M; Abid AM; Boughamoura L; Maatouk F; Rouis M; Boileau C; Rabès JP; Slimane MN; Varret M
Atherosclerosis; 2009 Apr; 203(2):449-53. PubMed ID: 18757057
[TBL] [Abstract][Full Text] [Related]
2. Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.
Slimani A; Jelassi A; Jguirim I; Najah M; Rebhi L; Omezzine A; Maatouk F; Hamda KB; Kacem M; Rabès JP; Abifadel M; Boileau C; Rouis M; Slimane MN; Varret M
Atherosclerosis; 2012 May; 222(1):158-66. PubMed ID: 22417841
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.
Chiou KR; Charng MJ
Gene; 2012 Apr; 498(1):100-6. PubMed ID: 22353362
[TBL] [Abstract][Full Text] [Related]
6. Molecular genetics of familial hypercholesterolemia in Israel-revisited.
Durst R; Ibe UK; Shpitzen S; Schurr D; Eliav O; Futema M; Whittall R; Szalat A; Meiner V; Knobler H; Gavish D; Henkin Y; Ellis A; Rubinstein A; Harats D; Bitzur R; Hershkovitz B; Humphries SE; Leitersdorf E
Atherosclerosis; 2017 Feb; 257():55-63. PubMed ID: 28104544
[TBL] [Abstract][Full Text] [Related]
7. Low-density lipoprotein receptor gene mutation analysis and structure-function correlation in an Omani arab family with familial hypercholesterolemia.
Al-Rasadi K; Al-Waili K; Al-Zidi WA; Al-Abri AR; Al-Hinai AT; Al-Sabti HA; Al-Tobi S; Al-Zakwani I; Al-Zadjali F; Al-Hashmi K; Banerjee Y
Angiology; 2014 Nov; 65(10):911-8. PubMed ID: 24249837
[TBL] [Abstract][Full Text] [Related]
8. Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.
Chater R; Aït Chihab K; Rabès JP; Varret M; Chabraoui L; El Jahiri Y; Adlouni A; Boileau C; Kettani A; El Messal M
Clin Chim Acta; 2006 Nov; 373(1-2):62-9. PubMed ID: 16806138
[TBL] [Abstract][Full Text] [Related]
9. The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Tichý L; Freiberger T; Zapletalová P; Soška V; Ravčuková B; Fajkusová L
Atherosclerosis; 2012 Aug; 223(2):401-8. PubMed ID: 22698793
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
Chiou KR; Charng MJ
Am J Cardiol; 2010 Jun; 105(12):1752-8. PubMed ID: 20538126
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
Abifadel M; Rabès JP; Jambart S; Halaby G; Gannagé-Yared MH; Sarkis A; Beaino G; Varret M; Salem N; Corbani S; Aydénian H; Junien C; Munnich A; Boileau C
Hum Mutat; 2009 Jul; 30(7):E682-91. PubMed ID: 19319977
[TBL] [Abstract][Full Text] [Related]
15. The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.
Shawar SM; Al-Drees MA; Ramadan AR; Ali NH; Alfadhli SM
Atherosclerosis; 2012 Feb; 220(2):429-36. PubMed ID: 22129472
[TBL] [Abstract][Full Text] [Related]
16. Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia.
Jelassi A; Slimani A; Jguirim I; Najah M; Maatouk F; Varret M; Slimane MN
Ann Clin Biochem; 2011 Jan; 48(Pt 1):83-6. PubMed ID: 21115573
[TBL] [Abstract][Full Text] [Related]
17. Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.
Mabuchi H; Nohara A; Noguchi T; Kobayashi J; Kawashiri MA; Inoue T; Mori M; Tada H; Nakanishi C; Yagi K; Yamagishi M; Ueda K; Takegoshi T; Miyamoto S; Inazu A; Koizumi J;
Atherosclerosis; 2014 Sep; 236(1):54-61. PubMed ID: 25014035
[TBL] [Abstract][Full Text] [Related]
18. The genetic spectrum of familial hypercholesterolemia in Pakistan.
Ahmed W; Whittall R; Riaz M; Ajmal M; Sadeque A; Ayub H; Qamar R; Humphries SE
Clin Chim Acta; 2013 Jun; 421():219-25. PubMed ID: 23535506
[TBL] [Abstract][Full Text] [Related]
19. Moderate phenotypic expression of familial hypercholesterolemia in Tunisia.
Jelassi A; Slimani A; Jguirim I; Najah M; Abid A; Boughamoura L; Mzid J; Fkih M; Maatouk F; Rouis M; Varret M; Slimane MN
Clin Chim Acta; 2010 May; 411(9-10):735-8. PubMed ID: 20144596
[TBL] [Abstract][Full Text] [Related]
20. Molecular characterization of familial hypercholesterolemia in Spain.
Palacios L; Grandoso L; Cuevas N; Olano-Martín E; Martinez A; Tejedor D; Stef M
Atherosclerosis; 2012 Mar; 221(1):137-42. PubMed ID: 22244043
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]