Simone ML - Search Results

1

Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects.

Cefalù AB, Spina R, Noto D, Rabacchi C, Giammanco A, Simone ML, Brucato F, Scrimali C, Gueli-Alletti MG, Barbagallo CM, Tarugi P, Averna MR. Cefalù AB, et al. Among authors: simone ml. J Clin Lipidol. 2022 Jul-Aug;16(4):530-537. doi: 10.1016/j.jacl.2022.04.009. Epub 2022 May 8. J Clin Lipidol. 2022. PMID: 35589500

2

Novel mutations of SAR1B gene in four children with chylomicron retention disease.

Simone ML, Rabacchi C, Kuloglu Z, Kansu A, Ensari A, Demir AM, Hizal G, Di Leo E, Bertolini S, Calandra S, Tarugi P. Simone ML, et al. J Clin Lipidol. 2019 Jul-Aug;13(4):554-562. doi: 10.1016/j.jacl.2019.05.013. Epub 2019 May 30. J Clin Lipidol. 2019. PMID: 31253576

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. Among authors: simone ml. 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

A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter region.

Marino M, Rabacchi C, Simone ML, Medici V, Cortesi L, Calandra S. Marino M, et al. Among authors: simone ml. Clin Chim Acta. 2009 May;403(1-2):249-53. doi: 10.1016/j.cca.2009.02.020. Epub 2009 Mar 25. Clin Chim Acta. 2009. PMID: 19393826

5

Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia).

Garuti R, Lelli N, Barozzini M, Tiozzo R, Ghisellini M, Simone ML, Li Volti S, Garozzo R, Mollica F, Vergoni W, Bertolini S, Calandra S. Garuti R, et al. Among authors: simone ml. Atherosclerosis. 1996 Mar;121(1):105-17. doi: 10.1016/0021-9150(95)05707-2. Atherosclerosis. 1996. PMID: 8678915

6

Four novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia.

Bertolini S, Garuti R, Lelli W, Rolleri M, Tiozzo RM, Ghisellini M, Simone ML, Masturzo P, Elicio NC, Stefanutti C, et al. Bertolini S, et al. Among authors: simone ml. Arterioscler Thromb Vasc Biol. 1995 Jan;15(1):81-8. doi: 10.1161/01.atv.15.1.81. Arterioscler Thromb Vasc Biol. 1995. PMID: 7749819

7

Identification of an alternative transcript of ABCA1 gene in different human cell types.

Bellincampi L, Simone ML, Motti C, Cortese C, Bernardini S, Bertolini S, Calandra S. Bellincampi L, et al. Among authors: simone ml. Biochem Biophys Res Commun. 2001 May 11;283(3):590-7. doi: 10.1006/bbrc.2001.4823. Biochem Biophys Res Commun. 2001. PMID: 11341765

8

Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.

Bertolini S, Cassanelli S, Garuti R, Ghisellini M, Simone ML, Rolleri M, Masturzo P, Calandra S. Bertolini S, et al. Among authors: simone ml. Arterioscler Thromb Vasc Biol. 1999 Feb;19(2):408-18. doi: 10.1161/01.atv.19.2.408. Arterioscler Thromb Vasc Biol. 1999. PMID: 9974426

9

A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).

Lelli N, Garuti R, Pedrazzi P, Ghisellini M, Simone ML, Tiozzo R, Cattin L, Valenti M, Rolleri M, Bertolini S, et al. Lelli N, et al. Among authors: simone ml. Hum Genet. 1994 May;93(5):538-40. doi: 10.1007/BF00202819. Hum Genet. 1994. PMID: 8168830

10

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.

Bernardis I, Chiesi L, Tenedini E, Artuso L, Percesepe A, Artusi V, Simone ML, Manfredini R, Camparini M, Rinaldi C, Ciardella A, Graziano C, Balducci N, Tranchina A, Cavallini GM, Pietrangelo A, Marigo V, Tagliafico E. Bernardis I, et al. Among authors: simone ml. Biomed Res Int. 2016;2016:6341870. doi: 10.1155/2016/6341870. Epub 2016 Dec 29. Biomed Res Int. 2016. PMID: 28127548 Free PMC article.

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