Di Leo E - Search Results

1

Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.

Yilmaz BS, Mungan NO, Di Leo E, Magnolo L, Artuso L, Bernardis I, Tumgor G, Kor D, Tarugi P. Yilmaz BS, et al. Among authors: di leo e. Clin Chim Acta. 2016 Jan 15;452:185-90. doi: 10.1016/j.cca.2015.11.017. Epub 2015 Nov 22. Clin Chim Acta. 2016. PMID: 26612772

2

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

3

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. Among authors: di leo e. Atherosclerosis. 2007 Dec;195(2):e19-27. doi: 10.1016/j.atherosclerosis.2007.05.003. Epub 2007 Jun 14. Atherosclerosis. 2007. PMID: 17570373 Review.

4

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. Among authors: di leo e. 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

5

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

6

The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations.

Di Leo E, Eminoglu T, Magnolo L, Bolkent MG, Tümer L, Okur I, Tarugi P. Di Leo E, et al. J Clin Lipidol. 2015 May-Jun;9(3):400-5. doi: 10.1016/j.jacl.2015.01.005. Epub 2015 Jan 28. J Clin Lipidol. 2015. PMID: 26073401

7

Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.

Lancellotti S, Di Leo E, Penacchioni JY, Balli F, Viola L, Bertolini S, Calandra S, Tarugi P. Lancellotti S, et al. Among authors: di leo e. Biochim Biophys Acta. 2004 Jan 20;1688(1):61-7. doi: 10.1016/j.bbadis.2003.11.002. Biochim Biophys Acta. 2004. PMID: 14732481 Free article.

8

Pediatric gallstone disease in familial hypobetalipoproteinemia.

Lancellotti S, Zaffanello M, Di Leo E, Costa L, Lonardo A, Tarugi P. Lancellotti S, et al. Among authors: di leo e. J Hepatol. 2005 Jul;43(1):188-91. doi: 10.1016/j.jhep.2005.03.012. J Hepatol. 2005. PMID: 15894400

9

Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.

Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, Gueddiche NM, Calandra S, Slimene NM, Tarugi P. Magnolo L, et al. Among authors: di leo e. Gene. 2013 Jan 1;512(1):28-34. doi: 10.1016/j.gene.2012.09.117. Epub 2012 Oct 6. Gene. 2013. PMID: 23043934

10

Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.

Walsh MT, Iqbal J, Josekutty J, Soh J, Di Leo E, Özaydin E, Gündüz M, Tarugi P, Hussain MM. Walsh MT, et al. Among authors: di leo e. Circ Cardiovasc Genet. 2015 Oct;8(5):677-87. doi: 10.1161/CIRCGENETICS.115.001106. Epub 2015 Jul 29. Circ Cardiovasc Genet. 2015. PMID: 26224785 Free PMC article.

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