Similar articles for PMID: 23054246

Year	Number of Results
2004	1
2005	2
2006	5
2007	3
2008	3
2009	5
2010	8
2011	9
2012	11
2013	8
2014	9
2015	12
2016	13
2017	11
2018	8
2019	5
2020	9
2021	15
2022	23
2023	10
2024	0

1

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Futema M, Plagnol V, Whittall RA, Neil HA; Simon Broome Register Group; Humphries SE; UK10K. Futema M, et al. J Med Genet. 2012 Oct;49(10):644-9. doi: 10.1136/jmedgenet-2012-101189. J Med Genet. 2012. PMID: 23054246 Free PMC article.

2

Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Radovica-Spalvina I, Latkovskis G, Silamikelis I, Fridmanis D, Elbere I, Ventins K, Ozola G, Erglis A, Klovins J. Radovica-Spalvina I, et al. BMC Med Genet. 2015 Sep 28;16:86. doi: 10.1186/s12881-015-0230-x. BMC Med Genet. 2015. PMID: 26415676 Free PMC article.

3

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Futema M, Plagnol V, Li K, Whittall RA, Neil HA, Seed M; Simon Broome Consortium; Bertolini S, Calandra S, Descamps OS, Graham CA, Hegele RA, Karpe F, Durst R, Leitersdorf E, Lench N, Nair DR, Soran H, Van Bockxmeer FM; UK10K Consortium; Humphries SE. Futema M, et al. J Med Genet. 2014 Aug;51(8):537-44. doi: 10.1136/jmedgenet-2014-102405. Epub 2014 Jul 1. J Med Genet. 2014. PMID: 24987033 Free PMC article.

4

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

5

Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

Maglio C, Mancina RM, Motta BM, Stef M, Pirazzi C, Palacios L, Askaryar N, Borén J, Wiklund O, Romeo S. Maglio C, et al. J Intern Med. 2014 Oct;276(4):396-403. doi: 10.1111/joim.12263. Epub 2014 May 21. J Intern Med. 2014. PMID: 24785115 Free PMC article.

6

Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

Razman AZ, Chua YA, Mohd Kasim NA, Al-Khateeb A, Sheikh Abdul Kadir SH, Jusoh SA, Nawawi H; MyHEBAT-FH Study Investigators. Razman AZ, et al. Int J Mol Sci. 2022 Nov 29;23(23):14971. doi: 10.3390/ijms232314971. Int J Mol Sci. 2022. PMID: 36499307 Free PMC article.

7

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

8

Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis.

Di Costanzo A, Minicocci I, D'Erasmo L, Commodari D, Covino S, Bini S, Ghadiri A, Ceci F, Maranghi M, Catapano AL, Gazzotti M, Casula M, Montali A, Arca M. Di Costanzo A, et al. J Clin Lipidol. 2021 Nov-Dec;15(6):822-831. doi: 10.1016/j.jacl.2021.10.001. Epub 2021 Oct 11. J Clin Lipidol. 2021. PMID: 34756585

9

Molecular characterization of familial hypercholesterolemia in Spain.

Palacios L, Grandoso L, Cuevas N, Olano-Martín E, Martinez A, Tejedor D, Stef M. Palacios L, et al. Atherosclerosis. 2012 Mar;221(1):137-42. doi: 10.1016/j.atherosclerosis.2011.12.021. Epub 2011 Dec 23. Atherosclerosis. 2012. PMID: 22244043

10

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

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