Similar articles for PMID: 19319977

Year	Number of Results
1992	1
1994	1
1997	2
1998	1
1999	1
2000	2
2001	1
2002	1
2003	2
2004	7
2005	9
2006	17
2007	13
2008	18
2009	18
2010	19
2011	15
2012	20
2013	22
2014	26
2015	31
2016	37
2017	34
2018	28
2019	22
2020	25
2021	35
2022	30
2023	12
2024	1

1

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. Abifadel M, et al. Hum Mutat. 2009 Jul;30(7):E682-91. doi: 10.1002/humu.21002. Hum Mutat. 2009. PMID: 19319977

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. Slimani A, et al. Atherosclerosis. 2012 May;222(1):158-66. doi: 10.1016/j.atherosclerosis.2012.02.018. Epub 2012 Feb 19. Atherosclerosis. 2012. PMID: 22417841

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. Grenkowitz T, et al. Atherosclerosis. 2016 Oct;253:88-93. doi: 10.1016/j.atherosclerosis.2016.08.037. Epub 2016 Aug 26. Atherosclerosis. 2016. PMID: 27596133

4

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. Mabuchi H, et al. Atherosclerosis. 2014 Sep;236(1):54-61. doi: 10.1016/j.atherosclerosis.2014.06.005. Epub 2014 Jun 26. Atherosclerosis. 2014. PMID: 25014035

5

The contribution of PCSK9 levels to the phenotypic severity of familial hypercholesterolemia is independent of LDL receptor genotype.

Drouin-Chartier JP, Tremblay AJ, Hogue JC, Ooi TC, Lamarche B, Couture P. Drouin-Chartier JP, et al. Metabolism. 2015 Nov;64(11):1541-7. doi: 10.1016/j.metabol.2015.08.007. Epub 2015 Aug 20. Metabolism. 2015. PMID: 26371983

6

Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia.

Pisciotta L, Sallo R, Rabacchi C, Wunsch A, Calandra S, Bertolini S. Pisciotta L, et al. Nutr Metab Cardiovasc Dis. 2012 Oct;22(10):831-5. doi: 10.1016/j.numecd.2011.04.003. Epub 2011 Sep 14. Nutr Metab Cardiovasc Dis. 2012. PMID: 21920719

7

Elevated plasma PCSK9 level is equally detrimental for patients with nonfamilial hypercholesterolemia and heterozygous familial hypercholesterolemia, irrespective of low-density lipoprotein receptor defects.

Lambert G, Petrides F, Chatelais M, Blom DJ, Choque B, Tabet F, Wong G, Rye KA, Hooper AJ, Burnett JR, Barter PJ, Marais AD. Lambert G, et al. J Am Coll Cardiol. 2014 Jun 10;63(22):2365-73. doi: 10.1016/j.jacc.2014.02.538. Epub 2014 Mar 12. J Am Coll Cardiol. 2014. PMID: 24632287 Free article.

8

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. Jelassi A, et al. Ann Clin Biochem. 2011 Jan;48(Pt 1):83-6. doi: 10.1258/acb.2010.010087. Epub 2010 Nov 29. Ann Clin Biochem. 2011. PMID: 21115573

9

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. Allard D, et al. Hum Mutat. 2005 Nov;26(5):497. doi: 10.1002/humu.9383. Hum Mutat. 2005. PMID: 16211558

10

Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.

Al-Allaf FA, Athar M, Abduljaleel Z, Taher MM, Khan W, Ba-Hammam FA, Abalkhail H, Alashwal A. Al-Allaf FA, et al. Gene. 2015 Jul 1;565(1):76-84. doi: 10.1016/j.gene.2015.03.064. Epub 2015 Apr 1. Gene. 2015. PMID: 25839937

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

381 results

Results by year