Maltese PE - Search Results

1

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.

Iarossi G, Marino V, Maltese PE, Colombo L, D'Esposito F, Manara E, Dhuli K, Modarelli AM, Cennamo G, Magli A, Dell'Orco D, Bertelli M. Iarossi G, et al. Among authors: maltese pe. Int J Mol Sci. 2020 Dec 31;22(1):381. doi: 10.3390/ijms22010381. Int J Mol Sci. 2020. PMID: 33396523 Free PMC article.

2

Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT.

Colombo L, Sala B, Montesano G, Pierrottet C, De Cillà S, Maltese P, Bertelli M, Rossetti L. Colombo L, et al. J Ophthalmol. 2015;2015:189140. doi: 10.1155/2015/189140. Epub 2015 May 17. J Ophthalmol. 2015. PMID: 26075083 Free PMC article.

3

Polymorphism of UGT1A1*28 (TA)7 and liver damage in hepatitis B virus-positive patients in Albania.

Marku E, Maltese PE, Koni M, Capodicasa N, Qendro IS, Rigoni E, Cecchin S, Bertelli M. Marku E, et al. Among authors: maltese pe. Genet Mol Res. 2015 May 18;14(2):5221-8. doi: 10.4238/2015.May.18.13. Genet Mol Res. 2015. PMID: 26125716 Free article.

4

Genetic polymorphisms and retinal vein occlusion in an Italian population.

De Polo L, Maltese PE, Rigoni E, Bertelli M, Cecchin S, Staurenghi G, Stoppa G. De Polo L, et al. Among authors: maltese pe. Genet Mol Res. 2015 Oct 27;14(4):13337-41. doi: 10.4238/2015.October.26.30. Genet Mol Res. 2015. PMID: 26535647 Free article.

5

FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.

Tavian D, Missaglia S, Maltese PE, Michelini S, Fiorentino A, Ricci M, Serrani R, Walter MA, Bertelli M. Tavian D, et al. Among authors: maltese pe. Oncotarget. 2016 Aug 23;7(34):54228-54239. doi: 10.18632/oncotarget.9797. Oncotarget. 2016. PMID: 27276711 Free PMC article.

6

Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity.

Paolini B, Maltese PE, Del Ciondolo I, Tavian D, Missaglia S, Ciuoli C, Zuntini M, Cecchin S, Bertelli M, Pompucci G. Paolini B, et al. Among authors: maltese pe. Genet Mol Res. 2016 Aug 19;15(3). doi: 10.4238/gmr.15038718. Genet Mol Res. 2016. PMID: 27706562 Free article.

7

Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.

Nicoletti A, Ziccardi L, Maltese PE, Benedetti S, Palumbo O, Rendina M, D'Agruma L, Falsini B, Wang X, Bertelli M. Nicoletti A, et al. Among authors: maltese pe. Genet Test Mol Biomarkers. 2017 Feb;21(2):116-121. doi: 10.1089/gtmb.2016.0257. Epub 2016 Dec 20. Genet Test Mol Biomarkers. 2017. PMID: 27997221 Free PMC article.

8

Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families.

Maltese PE, Orlova N, Krasikova E, Emelyanchik E, Cheremisina A, Kuscaeva A, Salmina A, Miotto R, Bonizzato A, Guerri G, Zuntini M, Nicoulina S, Bertelli M. Maltese PE, et al. Int Heart J. 2017 Feb 7;58(1):81-87. doi: 10.1536/ihj.16-133. Epub 2016 Dec 21. Int Heart J. 2017. PMID: 28003625 Free article.

9

Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier.

Maltese P, Ziccardi L, Iarossi G, Gusson E, D'Agruma L, Marchini G, Buzzonetti L, Nicoletti A, Benedetti S, Bertelli M. Maltese P, et al. Ophthalmic Genet. 2017 Sep-Oct;38(5):473-479. doi: 10.1080/13816810.2016.1253107. Epub 2017 Feb 1. Ophthalmic Genet. 2017. PMID: 28145787

10

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.

Iarossi G, Bertelli M, Maltese PE, Gusson E, Marchini G, Bruson A, Benedetti S, Volpetti S, Catena G, Buzzonetti L, Ziccardi L. Iarossi G, et al. Among authors: maltese pe. J Ophthalmol. 2017;2017:3080245. doi: 10.1155/2017/3080245. Epub 2017 Jul 5. J Ophthalmol. 2017. PMID: 28758032 Free PMC article.

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