Bertelli M - Search Results

1

Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants.

Maltese PE, Michelini S, Ricci M, Maitz S, Fiorentino A, Serrani R, Lazzerotti A, Bruson A, Paolacci S, Benedetti S, Bertelli M. Maltese PE, et al. Among authors: bertelli m. Am J Med Genet A. 2019 Sep;179(9):1718-1724. doi: 10.1002/ajmg.a.61269. Epub 2019 Jun 18. Am J Med Genet A. 2019. PMID: 31215153

2

Clinical and genetic study of 46 Italian patients with primary lymphedema.

Michelini S, Degiorgio D, Cestari M, Corda D, Ricci M, Cardone M, Mander A, Famoso L, Contini E, Serrani R, Pinelli L, Cecchin S, Bertelli M. Michelini S, et al. Among authors: bertelli m. Lymphology. 2012 Mar;45(1):3-12. Lymphology. 2012. PMID: 22768468

3

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

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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