Bertelli M - Search Results

1

Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.

Cristofoli F, Sorrentino E, Guerri G, Miotto R, Romanelli R, Zulian A, Cecchin S, Paolacci S, Miertus J, Bertelli M, Maltese PE, Chiurazzi P, Stuppia L, Castori M, Marceddu G. Cristofoli F, et al. Among authors: bertelli m. Genes (Basel). 2021 Nov 25;12(12):1885. doi: 10.3390/genes12121885. Genes (Basel). 2021. PMID: 34946832 Free PMC article.

2

Polymorphisms of alpha-actinin-3 and ciliary neurotrophic factor in national-level Italian athletes.

Persi A, Maltese PE, Bertelli M, Cecchin S, Ciaghi M, Guarnieri MC, Agnello L, Maggioni MA, Merati G, Veicsteinas A. Persi A, et al. Among authors: bertelli m. Panminerva Med. 2013 Jun;55(2):217-24. Panminerva Med. 2013. PMID: 23676962

3

Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

Pierrottet CO, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti LM, Cecchin S, Orzalesi N, Bertelli M. Pierrottet CO, et al. Among authors: bertelli m. Genet Mol Res. 2014 Oct 27;13(4):8815-33. doi: 10.4238/2014.October.27.23. Genet Mol Res. 2014. PMID: 25366773 Free article.

4

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. Among authors: bertelli m. J Ophthalmol. 2015;2015:189140. doi: 10.1155/2015/189140. Epub 2015 May 17. J Ophthalmol. 2015. PMID: 26075083 Free PMC article.

5

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: bertelli m. 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.

6

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: bertelli m. 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.

7

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: bertelli m. Oncotarget. 2016 Aug 23;7(34):54228-54239. doi: 10.18632/oncotarget.9797. Oncotarget. 2016. PMID: 27276711 Free PMC article.

8

Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.

Maltese PE, Venturini L, Poplavskaya E, Bertelli M, Cecchin S, Granato M, Nikulina SY, Salmina A, Aksyutina N, Capelli E, Ricevuti G, Lorusso L. Maltese PE, et al. Among authors: bertelli m. Genet Mol Res. 2016 Jul 29;15(3). doi: 10.4238/gmr.15038717. Genet Mol Res. 2016. PMID: 27525900 Free article.

9

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: bertelli m. Genet Mol Res. 2016 Aug 19;15(3). doi: 10.4238/gmr.15038718. Genet Mol Res. 2016. PMID: 27706562 Free article.

10

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: bertelli m. 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.

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