Bruno SM - Search Results

1

DNA Methylation Patterns Correlate with the Expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes.

Pierandrei S, Truglio G, Ceci F, Del Porto P, Bruno SM, Castellani S, Conese M, Ascenzioni F, Lucarelli M. Pierandrei S, et al. Among authors: bruno sm. Int J Mol Sci. 2021 Apr 4;22(7):3754. doi: 10.3390/ijms22073754. Int J Mol Sci. 2021. PMID: 33916525 Free PMC article.

2

A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.

Lucarelli M, Narzi L, Pierandrei S, Bruno SM, Stamato A, d'Avanzo M, Strom R, Quattrucci S. Lucarelli M, et al. Among authors: bruno sm. Genet Med. 2010 Sep;12(9):548-55. doi: 10.1097/GIM.0b013e3181ead634. Genet Med. 2010. PMID: 20706124 Free article.

3

A template for mutational data analysis of the CFTR gene.

Ferraguti G, Pierandrei S, Bruno SM, Ceci F, Strom R, Lucarelli M. Ferraguti G, et al. Among authors: bruno sm. Clin Chem Lab Med. 2011 Sep;49(9):1447-51. doi: 10.1515/CCLM.2011.604. Epub 2011 May 31. Clin Chem Lab Med. 2011. PMID: 21627495 Free PMC article.

4

Alcohol dependence and serotonin transporter functional polymorphisms 5-HTTLPR and rs25531 in an Italian population.

Pascale E, Ferraguti G, Codazzo C, Passarelli F, Mancinelli R, Bonvicini C, Bruno SM, Lucarelli M, Ceccanti M. Pascale E, et al. Among authors: bruno sm. Alcohol Alcohol. 2015 May;50(3):259-65. doi: 10.1093/alcalc/agv014. Epub 2015 Mar 13. Alcohol Alcohol. 2015. PMID: 25770138

5

A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Lucarelli M, Bruno SM, Pierandrei S, Ferraguti G, Stamato A, Narzi F, Amato A, Cimino G, Bertasi S, Quattrucci S, Strom R. Lucarelli M, et al. Among authors: bruno sm. Mol Med. 2015 Apr 21;21(1):257-75. doi: 10.2119/molmed.2014.00229. Mol Med. 2015. PMID: 25910067 Free PMC article.

6

The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis.

Lucarelli M, Bruno SM, Pierandrei S, Ferraguti G, Testino G, Truglio G, Strom R, Quattrucci S. Lucarelli M, et al. Among authors: bruno sm. J Mol Diagn. 2016 Jul;18(4):554-65. doi: 10.1016/j.jmoldx.2016.02.007. Epub 2016 May 5. J Mol Diagn. 2016. PMID: 27157324 Free article.

7

A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation.

Ceccanti M, Cambieri C, Frasca V, Onesti E, Biasiotta A, Giordano C, Bruno SM, Testino G, Lucarelli M, Arca M, Inghilleri M. Ceccanti M, et al. Among authors: bruno sm. Front Neurol. 2016 Nov 2;7:185. doi: 10.3389/fneur.2016.00185. eCollection 2016. Front Neurol. 2016. PMID: 27853448 Free PMC article.

8

A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology.

Lucarelli M, Porcaro L, Biffignandi A, Costantino L, Giannone V, Alberti L, Bruno SM, Corbetta C, Torresani E, Colombo C, Seia M. Lucarelli M, et al. Among authors: bruno sm. J Mol Diagn. 2017 Sep;19(5):788-800. doi: 10.1016/j.jmoldx.2017.06.002. Epub 2017 Jul 20. J Mol Diagn. 2017. PMID: 28736296 Free article.

9

CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?

Terlizzi V, Padoan R, Claut L, Colombo C, Fabrizzi B, Lucarelli M, Bruno SM, Castaldo A, Bonomi P, Taccetti G, Tosco A. Terlizzi V, et al. Among authors: bruno sm. Diagnostics (Basel). 2020 Dec 12;10(12):1080. doi: 10.3390/diagnostics10121080. Diagnostics (Basel). 2020. PMID: 33322690 Free PMC article.

10

Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract.

Sterrantino M, Fuso A, Pierandrei S, Bruno SM, Testino G, Cimino G, Angeloni A, Lucarelli M. Sterrantino M, et al. Among authors: bruno sm. Diagnostics (Basel). 2021 Jan 25;11(2):168. doi: 10.3390/diagnostics11020168. Diagnostics (Basel). 2021. PMID: 33504063 Free PMC article.

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