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Items: 1 to 20 of 577

1.

[Familial hypercholesterolemia in Tunisia].

Jelassi A, Jguirim I, Najah M, Maatouk F, Ben Hamda K, Slimane MN.

Pathol Biol (Paris). 2009 Jul;57(5):444-50. doi: 10.1016/j.patbio.2008.09.015. Epub 2008 Nov 28. Review. French.

PMID:
19041195
2.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
3.

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. doi: 10.1002/humu.21002.

PMID:
19319977
4.

Mechanisms of disease: genetic causes of familial hypercholesterolemia.

Soutar AK, Naoumova RP.

Nat Clin Pract Cardiovasc Med. 2007 Apr;4(4):214-25. Review.

PMID:
17380167
5.

LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.

Yang KC, Su YN, Shew JY, Yang KY, Tseng WK, Wu CC, Lee YT.

J Formos Med Assoc. 2007 Oct;106(10):799-807.

6.

LDL-receptor mutations in Europe.

Dedoussis GV, Schmidt H, Genschel J.

Hum Mutat. 2004 Dec;24(6):443-59. Review. Erratum in: Hum Mutat. 2005 Sep;26(3):277-8.

PMID:
15523646
7.

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.

Allard D, Amsellem S, Abifadel M, Trillard M, Devillers M, Luc G, Krempf M, Reznik Y, Girardet JP, Fredenrich A, Junien C, Varret M, Boileau C, Benlian P, Rabès JP.

Hum Mutat. 2005 Nov;26(5):497. Erratum in: Hum Mutat. 2005 Dec;26(6):592.

PMID:
16211558
8.

Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW, Kastelein JJ, Defesche JC.

Hum Mutat. 2005 Dec;26(6):550-6.

PMID:
16250003
9.

Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia.

Maxwell KN, Breslow JL.

Curr Opin Lipidol. 2005 Apr;16(2):167-72. Review.

PMID:
15767856
10.

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. Epub 2006 May 16.

PMID:
16806138
11.

Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia.

Cheng X, Ding J, Zheng F, Zhou X, Xiong C.

Mol Biol Rep. 2009 Nov;36(8):2053-7. doi: 10.1007/s11033-008-9416-z. Epub 2008 Nov 20.

PMID:
19020990
12.

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; Hokuriku FH Study Group.

Atherosclerosis. 2014 Sep;236(1):54-61. doi: 10.1016/j.atherosclerosis.2014.06.005. Epub 2014 Jun 26.

PMID:
25014035
13.

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. doi: 10.1016/j.atherosclerosis.2012.02.018. Epub 2012 Feb 19.

PMID:
22417841
14.

Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.

Ejarque I, Real JT, Martinez-Hervas S, Chaves FJ, Blesa S, Garcia-Garcia AB, Millan E, Ascaso JF, Carmena R.

Transl Res. 2008 Mar;151(3):162-7. doi: 10.1016/j.trsl.2007.12.001. Epub 2008 Jan 7.

PMID:
18279815
15.

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 15;105(12):1752-8. doi: 10.1016/j.amjcard.2010.01.356. Epub 2010 May 4.

PMID:
20538126
16.

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Zakharova FM, Damgaard D, Mandelshtam MY, Golubkov VI, Nissen PH, Nilsen GG, Stenderup A, Lipovetsky BM, Konstantinov VO, Denisenko AD, Vasilyev VB, Faergeman O.

BMC Med Genet. 2005 Feb 8;6:6.

17.

Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9.

Ouguerram K, Chetiveaux M, Zair Y, Costet P, Abifadel M, Varret M, Boileau C, Magot T, Krempf M.

Arterioscler Thromb Vasc Biol. 2004 Aug;24(8):1448-53. Epub 2004 May 27.

18.

Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.

Robles-Osorio L, Huerta-Zepeda A, Ordóñez ML, Canizales-Quinteros S, Díaz-Villaseñor A, Gutiérrez-Aguilar R, Riba L, Huertas-Vázquez A, Rodríguez-Torres M, Gómez-Díaz RA, Salinas S, Ongay-Larios L, Codiz-Huerta G, Mora-Cabrera M, Mehta R, Gómez Pérez FJ, Rull JA, Rabès JP, Tusié-Luna MT, Durán-Vargas S, Aguilar-Salinas CA.

Arch Med Res. 2006 Jan;37(1):102-8. Erratum in: Arch Med Res. 2006 Feb;37(2):297.

PMID:
16314194
19.

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. doi: 10.1258/acb.2010.010087. Epub 2010 Nov 29.

PMID:
21115573
20.

Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia.

Miltiadous G, Xenophontos S, Bairaktari E, Ganotakis M, Cariolou M, Elisaf M.

Pharmacogenet Genomics. 2005 Apr;15(4):219-25.

PMID:
15864114
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