Similar articles for PMID: 17158591

Year	Number of Results
1989	1
1991	4
1992	2
1993	3
1994	2
1995	2
1996	5
1997	2
1998	5
1999	5
2000	3
2001	1
2002	4
2003	4
2004	4
2005	7
2006	2
2007	6
2008	5
2009	11
2010	3
2011	4
2012	4
2013	5
2014	1
2015	5
2016	3
2017	3
2018	2
2019	4
2020	2
2021	3
2022	5
2023	1
2024	0

1

Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia.

Di Leo E, Magnolo L, Lancellotti S, Crocè L, Visintin L, Tiribelli C, Bertolini S, Calandra S, Tarugi P. Di Leo E, et al. J Med Genet. 2007 Mar;44(3):219-24. doi: 10.1136/jmg.2006.046359. Epub 2006 Dec 8. J Med Genet. 2007. PMID: 17158591 Free PMC article.

2

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

Di Leo E, Magnolo L, Pinotti E, Martini S, Cortella I, Vitturi N, Rabacchi C, Wunsch A, Pucci F, Bertolini S, Calandra S, Tarugi P. Di Leo E, et al. Mol Genet Metab. 2009 Feb;96(2):66-72. doi: 10.1016/j.ymgme.2008.10.016. Epub 2008 Dec 11. Mol Genet Metab. 2009. PMID: 19084451

3

In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia.

Rabacchi C, Simone ML, Pisciotta L, Di Leo E, Bocchi D, Pietrangelo A, D'Addato S, Bertolini S, Calandra S, Tarugi P. Rabacchi C, et al. J Clin Lipidol. 2019 Nov-Dec;13(6):960-969. doi: 10.1016/j.jacl.2019.09.003. Epub 2019 Sep 12. J Clin Lipidol. 2019. PMID: 31629702

4

Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations.

Di Leo E, Magnolo L, Bertolotti M, Bourbon M, Carmo Pereira S, Pirisi M, Calandra S, Tarugi P. Di Leo E, et al. Clin Genet. 2008 Sep;74(3):267-73. doi: 10.1111/j.1399-0004.2008.01023.x. Epub 2008 May 19. Clin Genet. 2008. PMID: 18492086

5

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.

Najah M, Di Leo E, Awatef J, Magnolo L, Imene J, Pinotti E, Bahri M, Barsaoui S, Brini I, Fekih M, Slimane MN, Tarugi P. Najah M, et al. Clin Chim Acta. 2009 Mar;401(1-2):51-6. doi: 10.1016/j.cca.2008.11.012. Epub 2008 Nov 21. Clin Chim Acta. 2009. PMID: 19056372

6

Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.

Cefalù AB, Norata GD, Ghiglioni DG, Noto D, Uboldi P, Garlaschelli K, Baragetti A, Spina R, Valenti V, Pederiva C, Riva E, Terracciano L, Zoja A, Grigore L, Averna MR, Catapano AL. Cefalù AB, et al. Atherosclerosis. 2015 Mar;239(1):209-17. doi: 10.1016/j.atherosclerosis.2015.01.014. Epub 2015 Jan 19. Atherosclerosis. 2015. PMID: 25618028 Review.

7

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene.

Tarugi P, Lonardo A, Gabelli C, Sala F, Ballarini G, Cortella I, Previato L, Bertolini S, Cordera R, Calandra S. Tarugi P, et al. J Lipid Res. 2001 Oct;42(10):1552-61. J Lipid Res. 2001. PMID: 11590210 Free article.

8

Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia.

Hooper AJ, Heeks L, Robertson K, Champain D, Hua J, Song S, Parhofer KG, Barrett PH, van Bockxmeer FM, Burnett JR. Hooper AJ, et al. J Clin Endocrinol Metab. 2015 Nov;100(11):E1484-90. doi: 10.1210/jc.2015-2731. Epub 2015 Aug 31. J Clin Endocrinol Metab. 2015. PMID: 26323024 Free article.

9

Molecular diagnosis of hypobetalipoproteinemia: an ENID review.

Tarugi P, Averna M, Di Leo E, Cefalù AB, Noto D, Magnolo L, Cattin L, Bertolini S, Calandra S. Tarugi P, et al. Atherosclerosis. 2007 Dec;195(2):e19-27. doi: 10.1016/j.atherosclerosis.2007.05.003. Epub 2007 Jun 14. Atherosclerosis. 2007. PMID: 17570373 Review.

10

Non-alcoholic steatohepatitis-related cirrhosis in a patient with APOB L343V familial hypobetalipoproteinaemia.

Heeks LV, Hooper AJ, Adams LA, Robbins P, Barrett PH, van Bockxmeer FM, Burnett JR. Heeks LV, et al. Clin Chim Acta. 2013 Jun 5;421:121-5. doi: 10.1016/j.cca.2013.03.004. Epub 2013 Mar 13. Clin Chim Acta. 2013. PMID: 23694813

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