RICERCA SCIENTIFICA
INTRODUZIONE
Il gruppo MAGI si distingue per una vasta produzione scientifica, con oltre 250 articoli pubblicati su PubMed che testimoniano la rilevanza nel campo della genetica medica e della ricerca sulle scienze omiche. Le principali aree di ricerca comprendono patologie come linfedema, lipedema, obesità, disturbi del comportamento alimentare e distrofie retiniche, oltre a studi sul Long-Covid, microbioma e sindrome da stanchezza cronica, contribuendo allo sviluppo di strategie diagnostiche e terapeutiche innovative.
Scopri i nostri articoli scientifici
DISTROFIE RETINICHE
Genotypic and Phenotypic Characterization of a Cohort of Patients Affected by Rod Cyclic Nucleotide Channel-Associated Retinitis Pigmentosa. Colombo L, Bonetti G, Maltese PE, Iarossi G, Ziccardi L, Fogagnolo P, De Ruvo V, Murro V, Giorgio D, Falsini B, Placidi G, Martella S, Galantin E, Bertelli M, Rossetti L. Ophthalmic Res. 2024;67(1):301-310. doi: 10.1159/000538746. Epub 2024 May 7. PMID: 38705136.
Targeted next-generation sequencing analysis in Italian patients with keratoconus. Lombardo M, Camellin U, Gioia R, Serrao S, Scorcia V, Roszkowska AM, Lombardo G, Bertelli M, Medori MC, Alunni Fegatelli D, Vestri A, Mencucci R, Schiano Lomoriello D. Eye (Lond). 2024 Apr 29. doi: 10.1038/s41433-024-03090-5. Epub ahead of print. PMID: 38684849.
A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. Placidi G, D’Agostino E, Maltese PE, Savastano MC, Gambini G, Rizzo S, Bonetti G, Bertelli M, Chiurazzi P, Falsini B. BMC Med Genomics. 2024 Apr 22;17(1):100. doi: 10.1186/s12920-024-01868-w. PMID: 38649918; PMCID: PMC11036775.
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily. D’Esposito F, Randazzo V, Vega MI, Esposito G, Maltese PE, Torregrossa S, Scibetta P, Listì F, Gagliano C, Scalia L, Pioppo A, Marino A, Piergentili M, Malvone E, Fioretti T, Vitrano A, Piccione M, Avitabile T, Salvatore F, Bertelli M, Costagliola C, Cordeiro MF, Maggio A, D’Alcamo E. Medicina (Kaunas). 2024 Feb 1;60(2):254. doi: 10.3390/medicina60020254. PMID: 38399542; PMCID: PMC10890639.
DEXAMETHASONE IMPLANT VERSUS TOPICAL CARBONIC ANHYDRASE INHIBITORS IN PATIENTS WITH BILATERAL RETINITIS PIGMENTOSA-RELATED CYSTOID MACULAR EDEMA: A Prospective, Paired-Eye Pilot Study. Colombo L, Montesano G, Di Domenico A, Colizzi B, Rissotto R, Maltese P, Bertelli M, Autelitano A, Rossetti L. Retina. 2024 May 1;44(5):852-860. doi: 10.1097/IAE.0000000000004039. Epub 2024 Apr 18. PMID: 38166238; PMCID: PMC11027988.
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants. Bonetti G, Cozza W, Bernini A, Kaftalli J, Mareso C, Cristofoli F, Medori MC, Colombo L, Martella S, Staurenghi G, Salvetti AP, Falsini B, Placidi G, Attanasio M, Pertile G, Bengala M, Bosello F, Petracca A, D’Esposito F, Toschi B, Lanzetta P, Ricci F, Viola F, Marceddu G, Bertelli M. Int J Mol Sci. 2023 Nov 28;24(23):16881. doi: 10.3390/ijms242316881. PMID: 38069202; PMCID: PMC10706286.
Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies. Romano F, Lamanna F, Boon CJF, Siligato A, Kalra G, Agarwal A, Medori C, Bertelli M, Pellegrini M, Invernizzi A, Staurenghi G, Salvetti AP. Ophthalmol Retina. 2024 May;8(5):509-519. doi: 10.1016/j.oret.2023.10.023. Epub 2023 Nov 3. PMID: 37924945.
BRUCH MEMBRANE RUPTURE AND CHOROIDAL NEOVASCULARIZATION COMPLICATING EXTENSIVE MACULAR ATROPHY WITH PSEUDODRUSEN-LIKE APPEARANCE: A CASE REPORT. Romano D, Colombo L, Maltese P, Bertelli M, Rossetti LM. Retin Cases Brief Rep. 2023 Sep 1;17(5):557-561. doi: 10.1097/ICB.0000000000001236. Epub 2022 Jan 18. PMID: 37643042; PMCID: PMC10448801.
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy. Placidi G, Maltese PE, Savastano MC, D’Agostino E, Cestrone V, Bertelli M, Chiurazzi P, Maceroni M, Minnella AM, Ziccardi L, Parisi V, Rizzo S, Falsini B. Diagnostics (Basel). 2023 Feb 23;13(5):850. doi: 10.3390/diagnostics13050850. PMID: 36899994; PMCID: PMC10000790.
Dietary supplements in retinal diseases, glaucoma, and other ocular conditions. Medori MC, Naureen Z, Dhuli K, Placidi G, Falsini B, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E189-E199. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2760. PMID: 36479474; PMCID: PMC9710404.
Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes. Antonelli G, Parravano M, Barbano L, Costanzo E, Bertelli M, Medori MC, Parisi V, Ziccardi L. Diagnostics (Basel). 2022 Jul 31;12(8):1851. doi: 10.3390/diagnostics12081851. PMID: 36010202; PMCID: PMC9406607.
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. Maltese PE, Colombo L, Martella S, Rossetti L, El Shamieh S, Sinibaldi L, Passarelli C, Coppè AM, Buzzonetti L, Falsini B, Chiurazzi P, Placidi G, Tanzi B, Bertelli M, Iarossi G. Front Genet. 2022 Jun 28;13:914345. doi: 10.3389/fgene.2022.914345. PMID: 35836572; PMCID: PMC9274138.
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy. Falsini B, Placidi G, De Siena E, Chiurazzi P, Minnella AM, Savastano MC, Ziccardi L, Parisi V, Iarossi G, Percio M, Piteková B, Marceddu G, Maltese PE, Bertelli M. Sci Rep. 2022 Mar 8;12(1):3774. doi: 10.1038/s41598-022-07618-1. PMID: 35260635; PMCID: PMC8904500.
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants. Colombo L, Maltese PE, Romano D, Fogagnolo P, Castori M, Marceddu G, Cristofoli F, Percio M, Piteková B, Modarelli AM, Bertelli M, Rossetti L. Ophthalmic Res. 2022;65(2):180-195. doi: 10.1159/000520329. Epub 2021 Nov 15. PMID: 34781295.
A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase. Biasi A, Marino V, Dal Cortivo G, Maltese PE, Modarelli AM, Bertelli M, Colombo L, Dell’Orco D. Int J Mol Sci. 2021 Oct 6;22(19):10809. doi: 10.3390/ijms221910809. PMID: 34639157; PMCID: PMC8509414.
Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells. Marino V, Dal Cortivo G, Maltese PE, Placidi G, De Siena E, Falsini B, Bertelli M, Dell’Orco D. Int J Mol Sci. 2021 Apr 14;22(8):4030. doi: 10.3390/ijms22084030. PMID: 33919796; PMCID: PMC8070792.
Progression of Atrophy and Visual Outcomes in Extensive Macular Atrophy with Pseudodrusen-like Appearance. Romano F, Airaldi M, Cozzi M, Oldani M, Riva E, Bertoni AI, Dautaj A, Bertelli M, Staurenghi G, Salvetti AP. Ophthalmol Sci. 2021 Mar 19;1(1):100016. doi: 10.1016/j.xops.2021.100016. PMID: 36246010; PMCID: PMC9559088.
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters. Gatticchi L, Vešelényiová D, Miertus J, Enrico Maltese P, Manara E, Costantini A, Benedetti S, Ďurovčíková D, Krajcovic J, Bertelli M. Mol Genet Genomic Med. 2021 Apr;9(4):e1630. doi: 10.1002/mgg3.1630. Epub 2021 Mar 16. PMID: 33724725; PMCID: PMC8123746.
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L. Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794; PMCID: PMC7884295.
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies. Falsini B, Placidi G, De Siena E, Savastano MC, Minnella AM, Maceroni M, Midena G, Ziccardi L, Parisi V, Bertelli M, Maltese PE, Chiurazzi P, Rizzo S. Diagnostics (Basel). 2021 Feb 1;11(2):213. doi: 10.3390/diagnostics11020213. PMID: 33535592; PMCID: PMC7912870.
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. Int J Mol Sci. 2020 Dec 31;22(1):381. doi: 10.3390/ijms22010381. PMID: 33396523; PMCID: PMC7795990.
Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome. Romano F, Dautaj A, Esposito RA, Bertelli M, Staurenghi G, Salvetti AP. Ophthalmic Genet. 2021 Apr;42(2):218-221. doi: 10.1080/13816810.2020.1867755. Epub 2021 Jan 3. PMID: 33393400.
A very early diagnosis of Alstrӧm syndrome by next generation sequencing. Gatticchi L, Miertus J, Maltese PE, Bressan S, De Antoni L, Podracká L, Piteková L, Rísová V, Mällo M, Jaakson K, Joost K, Colombo L, Bertelli M. BMC Med Genet. 2020 Sep 1;21(1):173. doi: 10.1186/s12881-020-01110-1. PMID: 32867697; PMCID: PMC7460749.
Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy. Piccardi M, Fadda A, Martelli F, Marangoni D, Magli A, Minnella AM, Bertelli M, Di Marco S, Bisti S, Falsini B. Nutrients. 2019 Oct 15;11(10):2461. doi: 10.3390/nu11102461. PMID: 31618812; PMCID: PMC6835540.
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology. Frecer V, Iarossi G, Salvetti AP, Maltese PE, Delledonne G, Oldani M, Staurenghi G, Falsini B, Minnella AM, Ziccardi L, Magli A, Colombo L, D’Esposito F, Miertus J, Viola F, Attanasio M, Maggio E, Bertelli M. J Transl Med. 2019 Oct 1;17(1):330. doi: 10.1186/s12967-019-2080-3. PMID: 31570112; PMCID: PMC6771118.
Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome. D’Esposito F, Randazzo V, Cennamo G, Centore N, Maltese PE, Malesci R, D’Andrea L, Bertelli M, Marciano E, de Crecchio G, Pioppo A, Magli A, Cordeiro MF. Eur J Ophthalmol. 2021 Mar;31(2):NP18-NP22. doi: 10.1177/1120672119879392. Epub 2019 Sep 30. PMID: 31566003.
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study. Manara E, Paolacci S, D’Esposito F, Abeshi A, Ziccardi L, Falsini B, Colombo L, Iarossi G, Pilotta A, Boccone L, Guerri G, Monica M, Marta B, Maltese PE, Buzzonetti L, Rossetti L, Bertelli M. Ital J Pediatr. 2019 Jun 13;45(1):72. doi: 10.1186/s13052-019-0659-1. PMID: 31196119; PMCID: PMC6567512.
Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report. Minnella AM, Pagliei V, Savastano MC, Federici M, Bertelli M, Maltese PE, Placidi G, Corbo G, Falsini B, Caporossi A. J Med Case Rep. 2018 Oct 3;12(1):287. doi: 10.1186/s13256-018-1819-4. PMID: 30285900; PMCID: PMC6169104.
Oguchi type I caused by a homozygous missense variation in the SAG gene. Colombo L, Abeshi A, Maltese PE, Frecer V, Miertuš J, Cerra D, Bertelli M, Rossetti L. Eur J Med Genet. 2019 Sep;62(9):103548. doi: 10.1016/j.ejmg.2018.09.015. Epub 2018 Sep 27. PMID: 30267901.
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors. Marino V, Dal Cortivo G, Oppici E, Maltese PE, D’Esposito F, Manara E, Ziccardi L, Falsini B, Magli A, Bertelli M, Dell’Orco D. Hum Mol Genet. 2018 Dec 15;27(24):4204-4217. doi: 10.1093/hmg/ddy311. PMID: 30184081.
Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant. D’Esposito F, Cennamo G, de Crecchio G, Maltese PE, Cecchin S, Bertelli M, Ziccardi L, Esposito Veneruso P, Magli A, Cennamo G, Cordeiro MF. Ophthalmic Res. 2018;60(3):169-175. doi: 10.1159/000489460. Epub 2018 Aug 3. PMID: 30078014.
Central Retina Functional Damage in Usher Syndrome Type 2: 22 Years of Focal Macular ERG Analysis in a Patient Population From Central and Southern Italy. Galli-Resta L, Placidi G, Campagna F, Ziccardi L, Piccardi M, Minnella A, Abed E, Iovine S, Maltese P, Bertelli M, Falsini B. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):3827-3835. doi: 10.1167/iovs.17-23703. PMID: 30073356.
Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study. Colombo L, Montesano G, Sala B, Patelli F, Maltese P, Abeshi A, Bertelli M, Rossetti L. BMC Ophthalmol. 2018 Jun 26;18(1):153. doi: 10.1186/s12886-018-0817-z. PMID: 29940899; PMCID: PMC6019320.
Corrigendum to “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. J Ophthalmol. 2017;2017:7969364. doi: 10.1155/2017/7969364. Epub 2017 Nov 30. Erratum for: J Ophthalmol. 2017;2017:3080245. doi: 10.1155/2017/3080245. PMID: 29333293; PMCID: PMC5733137.
Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene. Abed E, Placidi G, Campagna F, Federici M, Minnella A, Guerri G, Bertelli M, Piccardi M, Galli-Resta L, Falsini B. Clin Exp Ophthalmol. 2018 Jul;46(5):519-530. doi: 10.1111/ceo.13115. Epub 2017 Dec 28. PMID: 29178665.
Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy. El Shamieh S, Méjécase C, Bertelli M, Terray A, Michiels C, Condroyer C, Fouquet S, Sadoun M, Clérin E, Liu B, Léveillard T, Goureau O, Sahel JA, Audo I, Zeitz C. Genes (Basel). 2017 Oct 18;8(10):277. doi: 10.3390/genes8100277. PMID: 29057815; PMCID: PMC5664127.
Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease. Abed E, Placidi G, Calandriello L, Piccardi M, Campagna F, Bertelli M, Minnella AM, Savastano MC, Falsini B. J Ophthalmol. 2017;2017:3643495. doi: 10.1155/2017/3643495. Epub 2017 Aug 20. PMID: 28912967; PMCID: PMC5585538.
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. J Ophthalmol. 2017;2017:3080245. doi: 10.1155/2017/3080245. Epub 2017 Jul 5. Erratum in: J Ophthalmol. 2017;2017:7969364. doi: 10.1155/2017/7969364. PMID: 28758032; PMCID: PMC5516747.
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. Ophthalmic Genet. 2017 Sep-Oct;38(5):473-479. doi: 10.1080/13816810.2016.1253107. Epub 2017 Feb 1. PMID: 28145787.
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. Genet Test Mol Biomarkers. 2017 Feb;21(2):116-121. doi: 10.1089/gtmb.2016.0257. Epub 2016 Dec 20. PMID: 27997221; PMCID: PMC5335781.
Bilateral Symmetry of Visual Function Loss in Cone-Rod Dystrophies. Galli-Resta L, Falsini B, Rossi G, Piccardi M, Ziccardi L, Fadda A, Minnella A, Marangoni D, Placidi G, Campagna F, Abed E, Bertelli M, Zuntini M, Resta G. Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3759-68. doi: 10.1167/iovs.15-18313. PMID: 27415794.
Multimodal Approach to Monitoring and Investigating Cone Structure and Function in an Inherited Macular Dystrophy. Ziccardi L, Giannini D, Lombardo G, Serrao S, Dell’Omo R, Nicoletti A, Bertelli M, Lombardo M. Am J Ophthalmol. 2015 Aug;160(2):301-312.e6. doi: 10.1016/j.ajo.2015.04.024. Epub 2015 Apr 20. PMID: 25908487.
Flavonoid supplements increase neurotrophin activity to modulate inflammation in retinal genetic diseases. Kiani AK, Falsini B, Ziccardi L, Gusson E, Mangialavori D, Allegrini F, Colao E, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020014. doi: 10.23750/abm.v91i13-S.10683. PMID: 33170164; PMCID: PMC8023125.
CRB1-Related Cystic Maculopathy in Twins Conceived Through Heterologous Fertilization With Variant-Carrying Oocytes. Paolacci S, Iarossi G, Gusson E, Maltese PE, Dallavilla T, Fanelli F, Zulian A, Cerra D, Unfer V, Marchini G, Bertelli M. J Pediatr Ophthalmol Strabismus. 2020 Mar 12;57:e19-e24. doi: 10.3928/01913913-20200204-02. PMID: 32176805.
LIPEDEMA
Dietary supplements for lipedema. Bonetti G, Herbst KL, Dhuli K, Kiani AK, Michelini S, Michelini S, Ceccarini MR, Michelini S, Ricci M, Cestari M, Codini M, Beccari T, Bellinato F, Gisondi P, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E169-E173. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2758. PMID: 36479502; PMCID: PMC9710418.
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy. Michelini S, Herbst KL, Precone V, Manara E, Marceddu G, Dautaj A, Maltese PE, Paolacci S, Ceccarini MR, Beccari T, Sorrentino E, Aquilanti B, Velluti V, Matera G, Gagliardi L, Miggiano GAD, Bertelli M. J Pers Med. 2022 Feb 11;12(2):268. doi: 10.3390/jpm12020268. PMID: 35207755; PMCID: PMC8877075.
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema. Michelini S, Chiurazzi P, Marino V, Dell’Orco D, Manara E, Baglivo M, Fiorentino A, Maltese PE, Pinelli M, Herbst KL, Dautaj A, Bertelli M. Int J Mol Sci. 2020 Aug 29;21(17):6264. doi: 10.3390/ijms21176264. PMID: 32872468; PMCID: PMC7503355.
Genetic syndromes with localized subcutaneous fat tissue accumulation. Precone V, Barati S, Paolacci S, Salgarello M, Visconti G, Gentileschi S, Guerri G, Gagliardi L, Aquilanti B, Matera G, Velluti V, Miggiano GAD, Herbst KL, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):90-92. doi: 10.23750/abm.v90i10-S.8767. PMID: 31577262; PMCID: PMC7233643.
LINFEDEMA E MALFORMAZIONI VASCOLARI
CDH5, a Possible New Candidate Gene for Genetic Testing of Lymphedema. Michelini S, Ricci M, Amato B, Gentileschi S, Veselenyiova D, Kenanoglu S, Fiorentino A, Kurti D, Baglivo M, Manara E, Basha SH, Priya S, Krajcovic J, Dundar M, Belgrado JP, Dautaj A, Bertelli M. Lymphat Res Biol. 2022 Oct;20(5):496-506. doi: 10.1089/lrb.2020.0089. Epub 2021 Dec 8. PMID: 34882481.
Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations. Missaglia S, Tavian D, Michelini S, Maltese PE, Bonanomi A, Bertelli M. Genes (Basel). 2021 Apr 27;12(5):650. doi: 10.3390/genes12050650. PMID: 33925370; PMCID: PMC8146868.
Genetic Determinants of the Effects of Training on Muscle and Adipose Tissue Homeostasis in Obesity Associated with Lymphedema. Vettori A, Paolacci S, Maltese PE, Herbst KL, Cestari M, Michelini S, Michelini S, Samaja M, Bertelli M. Lymphat Res Biol. 2021 Aug;19(4):322-333. doi: 10.1089/lrb.2020.0057. Epub 2020 Dec 29. PMID: 33373545.
NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants. Michelini S, Ricci M, Serrani R, Barati S, Kenanoglu S, Veselenyiova D, Kurti D, Baglivo M, Basha SH, Priya S, Dautaj A, Dundar M, Krajcovic J, Bertelli M. Mol Genet Genomic Med. 2021 Jan;9(1):e1529. doi: 10.1002/mgg3.1529. Epub 2020 Nov 28. PMID: 33247628; PMCID: PMC7963424.
Segregation Analysis of Rare NRP1 and NRP2 Variants in Families with Lymphedema. Michelini S, Amato B, Ricci M, Kenanoglu S, Veselenyiova D, Kurti D, Baglivo M, Manara E, Dundar M, Krajcovic J, Basha SH, Priya S, Serrani R, Miggiano GAD, Aquilanti B, Matera G, Velluti V, Gagliardi L, Dautaj A, Bertelli M. Genes (Basel). 2020 Nov 17;11(11):1361. doi: 10.3390/genes11111361. PMID: 33212964; PMCID: PMC7698471.
Study of a supplement and a genetic test for lymphedema management. Michelini S, Cestari M, Michelini S, Camilleri G, De Antoni L, Sonna WN, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020013. doi: 10.23750/abm.v91i13-S.10658. PMID: 33170163; PMCID: PMC8023136.
Possible Role of the RORC Gene in Primary and Secondary Lymphedema: Review of the Literature and Genetic Study of Two Rare Causative Variants. Michelini S, Ricci M, Serrani R, Stuppia L, Beccari T, Veselenyiova D, Kenanoglu S, Barati S, Kurti D, Baglivo M, Basha SH, Krajcovic J, Dundar M, Bertelli M. Lymphat Res Biol. 2021 Apr;19(2):129-133. doi: 10.1089/lrb.2020.0030. Epub 2020 Sep 22. PMID: 32960152.
TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema. Michelini S, Ricci M, Veselenyiova D, Kenanoglu S, Kurti D, Baglivo M, Fiorentino A, Basha SH, Priya S, Serrani R, Krajcovic J, Dundar M, Dautaj A, Bertelli M. Int J Mol Sci. 2020 Sep 16;21(18):6780. doi: 10.3390/ijms21186780. PMID: 32947856; PMCID: PMC7555018.
Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes. Ricci M, Compagna R, Amato B, Kenanoglu S, Veselenyiova D, Kurti D, Baglivo M, Basha SH, Serrani R, Miggiano GAD, Aquilanti B, Matera G, Marceddu G, Velluti V, Gagliardi L, Dundar M, Krajcovic J, Bertelli M. Int J Genomics. 2020 Aug 25;2020:3781791. doi: 10.1155/2020/3781791. PMID: 32908855; PMCID: PMC7468673.
Two rare PROX1 variants in patients with lymphedema. Ricci M, Amato B, Barati S, Compagna R, Veselenyiova D, Kenanoglu S, Stuppia L, Beccari T, Baglivo M, Kurti D, Krajcovic J, Serrani R, Dundar M, Basha SH, Chiurazzi P, Bertelli M. Mol Genet Genomic Med. 2020 Oct;8(10):e1424. doi: 10.1002/mgg3.1424. Epub 2020 Aug 5. PMID: 32757260; PMCID: PMC7549596.
FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation. Tavian D, Missaglia S, Michelini S, Maltese PE, Manara E, Mordente A, Bertelli M. Int J Mol Sci. 2020 Jul 20;21(14):5112. doi: 10.3390/ijms21145112. PMID: 32698337; PMCID: PMC7404146.
Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema. Mukenge S, Jha SK, Catena M, Manara E, Leppänen VM, Lenti E, Negrini D, Bertelli M, Brendolan A, Jeltsch M, Aldrighetti L. Mol Genet Genomic Med. 2020 Sep;8(9):e1389. doi: 10.1002/mgg3.1389. Epub 2020 Jun 26. PMID: 32592340; PMCID: PMC7507552.
Molecular pathways involved in lymphedema: Hydroxytyrosol as a candidate natural compound for treating the effects of lymph accumulation. Bertelli M, Kiani AK, Paolacci S, Manara E, Dautaj A, Beccari T, Michelini S. J Biotechnol. 2020 Jan 20;308:82-86. doi: 10.1016/j.jbiotec.2019.11.017. Epub 2019 Nov 30. PMID: 31794783.
Electrical Stimulation in the Treatment of Lymphedema and Associated Skin Ulcers. Baglivo M, Martelli F, Paolacci S, Manara E, Michelini S, Bertelli M. Lymphat Res Biol. 2020 Jun;18(3):270-276. doi: 10.1089/lrb.2019.0052. Epub 2019 Nov 20. PMID: 31730410.
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. Am J Med Genet A. 2019 Sep;179(9):1718-1724. doi: 10.1002/ajmg.a.61269. Epub 2019 Jun 18. PMID: 31215153.
Vascular anomalies: molecular bases, genetic testing and therapeutic approaches. Paolacci S, Zulian A, Bruson A, Manara E, Michelini S, Mattassi RE, Lee BB, Amato B, Bertelli M. Int Angiol. 2019 Apr;38(2):157-170. doi: 10.23736/S0392-9590.19.04154-3. Epub 2019 Apr 1. PMID: 30938497.
Genetic tests in lymphatic vascular malformations and lymphedema. Michelini S, Paolacci S, Manara E, Eretta C, Mattassi R, Lee BB, Bertelli M. J Med Genet. 2018 Apr;55(4):222-232. doi: 10.1136/jmedgenet-2017-105064. Epub 2018 Feb 9. PMID: 29440349.
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management. Mattassi R, Manara E, Colombo PG, Manara S, Porcella A, Bruno G, Bruson A, Bertelli M. J Vasc Surg. 2018 Mar;67(3):922-932.e11. doi: 10.1016/j.jvs.2017.02.034. Epub 2017 Jun 24. PMID: 28655553.
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. Oncotarget. 2016 Aug 23;7(34):54228-54239. doi: 10.18632/oncotarget.9797. PMID: 27276711; PMCID: PMC5342337.
Dietary supplements in lymphedema. Bonetti G, Dhuli K, Michelini S, Michelini S, Michelini S, Ricci M, Cestari M, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E200-E205. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2761. PMID: 36479479; PMCID: PMC9710411.
Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways. Bonetti G, Paolacci S, Samaja M, Maltese PE, Michelini S, Michelini S, Michelini S, Ricci M, Cestari M, Dautaj A, Medori MC, Bertelli M. Int J Mol Sci. 2022 Jul 3;23(13):7414. doi: 10.3390/ijms23137414. PMID: 35806420; PMCID: PMC9267137.
Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations. Paolacci S, Mattassi RE, Marceddu G, Manara E, Zulian A, Guerri G, De Antoni L, Arduino C, Cavalca D, Bertelli M. J Clin Med. 2020 Oct 22;9(11):3387. doi: 10.3390/jcm9113387. PMID: 33105631; PMCID: PMC7690376.
OBESITA’
Dietary supplements for obesity. Bonetti G, Herbst KL, Donato K, Dhuli K, Kiani AK, Aquilanti B, Velluti V, Matera G, Iaconelli A, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E160-E168. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2757. PMID: 36479472; PMCID: PMC9710396.
Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity. Bonetti G, Dhuli K, Ceccarini MR, Kaftalli J, Samaja M, Precone V, Cecchin S, Maltese PE, Guerri G, Marceddu G, Beccari T, Aquilanti B, Velluti V, Matera G, Perrone M, Iaconelli A, Colombo F, Greco F, Raffaelli M, Ergoren MC, Bertelli M. J Clin Med. 2022 Dec 19;11(24):7531. doi: 10.3390/jcm11247531. PMID: 36556146; PMCID: PMC9783894.
A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. Maltese PE, Iarossi G, Ziccardi L, Colombo L, Buzzonetti L, Crinò A, Tezzele S, Bertelli M. Eur J Med Genet. 2018 Feb;61(2):79-83. doi: 10.1016/j.ejmg.2017.10.016. Epub 2017 Oct 24. PMID: 29079548.
Increased serum resistin in adults with prader-willi syndrome is related to obesity and not to insulin resistance. Pagano C, Marin O, Calcagno A, Schiappelli P, Pilon C, Milan G, Bertelli M, Fanin E, Andrighetto G, Federspil G, Vettor R. J Clin Endocrinol Metab. 2005 Jul;90(7):4335-40. doi: 10.1210/jc.2005-0293. Epub 2005 May 3. PMID: 15870134.
INFERTILITA’
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series. Cannarella R, Gusmano C, Condorelli RA, Bernini A, Kaftalli J, Maltese PE, Paolacci S, Dautaj A, Marceddu G, Bertelli M, La Vignera S, Calogero AE. Int J Mol Sci. 2023 Apr 18;24(8):7428. doi: 10.3390/ijms24087428. PMID: 37108593; PMCID: PMC10138801.
Dietary supplements for polycystic ovary syndrome. Kiani AK, Donato K, Dhuli K, Stuppia L, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E206-E213. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2762. PMID: 36479481; PMCID: PMC9710389.
Analysis of 29 Targeted Genes for Non-Obstructive Azoospermia: The Relationship between Genetic Testing and Testicular Histology. Cannarella R, Bertelli M, Condorelli RA, Vilaj M, La Vignera S, Jezek D, Calogero AE. World J Mens Health. 2023 Apr;41(2):422-433. doi: 10.5534/wjmh.220009. Epub 2022 Jul 14. PMID: 36047072; PMCID: PMC10042652.
Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report. Barbagallo F, Cannarella R, Bertelli M, Crafa A, La Vignera S, Condorelli RA, Calogero AE. Medicina (Kaunas). 2021 Oct 21;57(11):1142. doi: 10.3390/medicina57111142. PMID: 34833359; PMCID: PMC8624150.
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility. Precone V, Notarangelo A, Marceddu G, D’Agruma L, Cannarella R, Calogero AE, Cristofoli F, Guerri G, Paolacci S, Castori M, Bertelli M. Minerva Endocrinol (Torino). 2022 Mar;47(1):4-10. doi: 10.23736/S2724-6507.21.03477-1. Epub 2021 May 14. PMID: 33988008.
Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel. Precone V, Cannarella R, Paolacci S, Busetto GM, Beccari T, Stuppia L, Tonini G, Zulian A, Marceddu G, Calogero AE, Bertelli M. Front Endocrinol (Lausanne). 2021 Jan 26;11:605237. doi: 10.3389/fendo.2020.605237. PMID: 33574797; PMCID: PMC7872015.
Inositol and vitamin D may naturally protect human reproduction and women undergoing assisted reproduction from Covid-19 risk. Bezerra Espinola MS, Bertelli M, Bizzarri M, Unfer V, Laganà AS, Visconti B, Aragona C. J Reprod Immunol. 2021 Apr;144:103271. doi: 10.1016/j.jri.2021.103271. Epub 2021 Jan 8. PMID: 33493945; PMCID: PMC7833496.
Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing. Cannarella R, Precone V, Guerri G, Busetto GM, Di Renzo GC, Gerli S, Manara E, Dautaj A, Bertelli M, Calogero AE. Life (Basel). 2020 Oct 15;10(10):242. doi: 10.3390/life10100242. PMID: 33076341; PMCID: PMC7602585.
Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus. Cannarella R, Maniscalchi ET, Condorelli RA, Scalia M, Guerri G, La Vignera S, Bertelli M, Calogero AE. Front Genet. 2020 Aug 28;11:974. doi: 10.3389/fgene.2020.00974. PMID: 33005176; PMCID: PMC7483550.
Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure. Cannarella R, Condorelli RA, Paolacci S, Barbagallo F, Guerri G, Bertelli M, La Vignera S, Calogero AE. Asian J Androl. 2021 Jan-Feb;23(1):24-29. doi: 10.4103/aja.aja_25_20. PMID: 32655042; PMCID: PMC7831827.
Syndromic infertility. Guerri G, Maniscalchi T, Barati S, Dhuli K, Busetto GM, Del Giudice F, De Berardinis E, De Antoni L, Miertus J, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):75-82. doi: 10.23750/abm.v90i10-S.8764. PMID: 31577259; PMCID: PMC7233644.
Non-syndromic monogenic female infertility. Guerri G, Maniscalchi T, Barati S, Gerli S, Di Renzo GC, Della Morte C, Marceddu G, Casadei A, Laganà AS, Sturla D, Ghezzi F, Garzon S, Unfer V, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):68-74. doi: 10.23750/abm.v90i10-S.8763. PMID: 31577258; PMCID: PMC7233646.
Non-syndromic monogenic male infertility. Guerri G, Maniscalchi T, Barati S, Busetto GM, Del Giudice F, De Berardinis E, Cannarella R, Calogero AE, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):62-67. doi: 10.23750/abm.v90i10-S.8762. PMID: 31577257; PMCID: PMC7233647.
Combined use of medically-assisted reproductive techniques: a new bioethical issue. Bertelli M, Paolacci S, Placidi G, Scaccia G, Chiurazzi P, Fulcheri E, Malacarne D, Lichterman B, Petralia P. Acta Biomed. 2019 Sep 30;90(10-S):58-61. doi: 10.23750/abm.v90i10-S.8761. PMID: 31577256; PMCID: PMC7233638.
Genetic counseling for teratogenic risk due to exposure to medications: 89 pregnancies conceived during oral contraceptive use. Belli S, Mazzola S, Luongo R, Barcella L, Alushi B, Favaro A, Bertelli M. Am J Med Genet A. 2009 Jul;149A(7):1555-7. doi: 10.1002/ajmg.a.32608. PMID: 19504610.
ANORESSIA
Gene variants in eating disorders. Focus on anorexia nervosa, bulimia nervosa, and binge-eating disorder. Donato K, Ceccarini MR, Dhuli K, Bonetti G, Medori MC, Marceddu G, Precone V, Xhufi S, Bushati M, Bozo D, Beccari T, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E297-E305. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2772. PMID: 36479493; PMCID: PMC9710388.
Association Between DRD2 and DRD4 Polymorphisms and Eating Disorders in an Italian Population. Ceccarini MR, Fittipaldi S, Ciccacci C, Granese E, Centofanti F, Dalla Ragione L, Bertelli M, Beccari T, Botta A. Front Nutr. 2022 Mar 14;9:838177. doi: 10.3389/fnut.2022.838177. PMID: 35369087; PMCID: PMC8964431.
A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa. Ceccarini MR, Precone V, Manara E, Paolacci S, Maltese PE, Benfatti V, Dhuli K, Donato K, Guerri G, Marceddu G, Chiurazzi P, Dalla Ragione L, Beccari T, Bertelli M. Eat Weight Disord. 2022 Jun;27(5):1869-1880. doi: 10.1007/s40519-021-01331-0. Epub 2021 Nov 25. PMID: 34822136.
Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment. Paolacci S, Kiani AK, Manara E, Beccari T, Ceccarini MR, Stuppia L, Chiurazzi P, Dalla Ragione L, Bertelli M. Mol Genet Genomic Med. 2020 Jul;8(7):e1244. doi: 10.1002/mgg3.1244. Epub 2020 May 5. PMID: 32368866; PMCID: PMC7336737.
5-HT2AR and BDNF gene variants in eating disorders susceptibility. Ceccarini MR, Tasegian A, Franzago M, Patria FF, Albi E, Codini M, Conte C, Bertelli M, Dalla Ragione L, Stuppia L, Beccari T. Am J Med Genet B Neuropsychiatr Genet. 2020 Apr;183(3):155-163. doi: 10.1002/ajmg.b.32771. Epub 2019 Nov 20. PMID: 31746551.
CARDIOLOGIA
Atrial septal defects, supravalvular aortic stenosis and syndromes predisposing to aneurysm of large vessels. Baglivo M, Dassati S, Krasi G, Fanelli F, Kurti D, Bonelli A, Arabia G, Fabbicatore D, Muneretto C, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):53-57. doi: 10.23750/abm.v90i10-S.8760. PMID: 31577255; PMCID: PMC7233642.
Monogenic hypertension. Precone V, Krasi G, Guerri G, Stuppia L, Romeo F, Perrone M, Marinelli C, Zulian A, Dallavilla T, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):50-52. doi: 10.23750/abm.v90i10-S.8759. PMID: 31577254; PMCID: PMC7233634.
Monogenic hyperlipidemias. Krasi G, Bushati V, Precone V, Cortese B, Agostini F, Tezzele S, Baglivo M, Cecchin S, Aquilanti B, Velluti V, Matera G, Gagliardi L, Miggiano GAD, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):47-49. doi: 10.23750/abm.v90i10-S.8757. PMID: 31577253; PMCID: PMC7233650.
Hereditary thrombophilia. Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):44-46. doi: 10.23750/abm.v90i10-S.8758. PMID: 31577252; PMCID: PMC7233636.
Cardiomyopathies. Precone V, Krasi G, Guerri G, Madureri A, Piazzani M, Michelini S, Barati S, Maniscalchi T, Bressan S, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):32-43. doi: 10.23750/abm.v90i10-S.8755. PMID: 31577251; PMCID: PMC7233648.
Sudden unexplained death due to cardiac arrest. Precone V, Guerri G, Krasi G, Lupi L, Papa I, Beccari T, Maltese PE, Manara E, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):30-31. doi: 10.23750/abm.v90i10-S.8753. PMID: 31577250; PMCID: PMC7233640.
Cardiac conduction defects. Guerri G, Krasi G, Precone V, Paolacci S, Chiurazzi P, Arrigoni L, Cortese B, Dautaj A, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):20-29. doi: 10.23750/abm.v90i10-S.8751. PMID: 31577249; PMCID: PMC7233635.
Genetics and pharmacogenetics in the diagnosis and therapy of cardiovascular diseases. Krasi G, Precone V, Paolacci S, Stuppia L, Nodari S, Romeo F, Perrone M, Bushati V, Dautaj A, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):7-19. doi: 10.23750/abm.v90i10-S.8748. PMID: 31577248; PMCID: PMC7233637.
SINDROME DA STANCHEZZA CRONICA
Potential role of microbiome in Chronic Fatigue Syndrome/Myalgic Encephalomyelits (CFS/ME). Lupo GFD, Rocchetti G, Lucini L, Lorusso L, Manara E, Bertelli M, Puglisi E, Capelli E. Sci Rep. 2021 Mar 29;11(1):7043. doi: 10.1038/s41598-021-86425-6. PMID: 33782445; PMCID: PMC8007739.
MICROBIOMA E MUCOSITI ORALE
Polyphenols and Lactobacillus reuteri in oral health. Naureen Z, Medori MC, Dhuli K, Donato K, Connelly ST, Bellinato F, Gisondi P, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E246-E254. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2767. PMID: 36479495; PMCID: PMC9710395.
Breakdown of Symbiosis in Radiation-Induced Oral Mucositis. Ingrosso G, Saldi S, Marani S, Wong AYW, Bertelli M, Aristei C, Zelante T. J Fungi (Basel). 2021 Apr 12;7(4):290. doi: 10.3390/jof7040290. PMID: 33921294; PMCID: PMC8068946.
Bacteriophages in food supplements obtained from natural sources. Kiani AK, Anpilogov K, Dautaj A, Marceddu G, Sonna WN, Percio M, Dundar M, Beccari T, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020025. doi: 10.23750/abm.v91i13-S.10834. PMID: 33170168; PMCID: PMC8023131.
Bacteriophages presence in nature and their role in the natural selection of bacterial populations. Naureen Z, Dautaj A, Anpilogov K, Camilleri G, Dhuli K, Tanzi B, Maltese PE, Cristofoli F, De Antoni L, Beccari T, Dundar M, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020024. doi: 10.23750/abm.v91i13-S.10819. PMID: 33170167; PMCID: PMC8023132.
Dietary supplements for intestinal inflammation. Kiani AK, Bonetti G, Donato K, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E214-E220. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2763. PMID: 36479492; PMCID: PMC9710413.
MOLECOLE NATURALI, NUTRIZIONE E ATTIVITA’ FISICA
Foods of the Mediterranean diet: garlic and Mediterranean legumes. Naureen Z, Bonetti G, Medori MC, Aquilanti B, Velluti V, Matera G, Iaconelli A, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E12-E20. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2741. PMID: 36479501; PMCID: PMC9710409.
Foods of the Mediterranean diet: tomato, olives, chili pepper, wheat flour and wheat germ. Naureen Z, Dhuli K, Donato K, Aquilanti B, Velluti V, Matera G, Iaconelli A, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E4-E11. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2740. PMID: 36479499; PMCID: PMC9710402.
Main nutritional deficiencies. Kiani AK, Dhuli K, Donato K, Aquilanti B, Velluti V, Matera G, Iaconelli A, Connelly ST, Bellinato F, Gisondi P, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E93-E101. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2752. PMID: 36479498; PMCID: PMC9710417.
Periconceptional Mediterranean diet during pregnancy on children’s health. Çobanoğullari H, Ergoren MC, Dundar M, Bertelli M, Tulay P. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E65-E73. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2748. PMID: 36479491; PMCID: PMC9710394.
Implication of the Mediterranean diet on the human epigenome. Kenanoglu S, Gokce N, Akalin H, Ergoren MC, Beccari T, Bertelli M, Dundar M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E44-E55. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2746. PMID: 36479488; PMCID: PMC9710399.
Foods of the Mediterranean diet: citrus, cucumber and grape. Naureen Z, Dhuli K, Donato K, Aquilanti B, Velluti V, Matera G, Iaconelli A, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E21-E27. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2743. PMID: 36479487; PMCID: PMC9710412.
Foods of the Mediterranean diet: lacto-fermented food, the food pyramid and food combinations. Naureen Z, Bonetti G, Medori MC, Aquilanti B, Velluti V, Matera G, Iaconelli A, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E28-E35. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2744. PMID: 36479486; PMCID: PMC9710393.7
Metabolomics application for the design of an optimal diet. Naureen Z, Cristoni S, Donato K, Medori MC, Samaja M, Herbst KL, Aquilanti B, Velluti V, Matera G, Fioretti F, Iaconelli A, Perrone MA, DI Giulio L, Gregorace E, Chiurazzi P, Nodari S, Connelly ST, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E142-E149. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2755. PMID: 36479478; PMCID: PMC9710392.
Modern vision of the Mediterranean diet. Kiani AK, Medori MC, Bonetti G, Aquilanti B, Velluti V, Matera G, Iaconelli A, Stuppia L, Connelly ST, Herbst KL, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E36-E43. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2745. PMID: 36479477; PMCID: PMC9710405.
An overview of the genetic aspects of hair loss and its connection with nutrition. Gokce N, Basgoz N, Kenanoglu S, Akalin H, Ozkul Y, Ergoren MC, Beccari T, Bertelli M, Dundar M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E228-E238. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2765. PMID: 36479473; PMCID: PMC9710406.
Polymorphisms, diet and nutrigenomics. Kiani AK, Bonetti G, Donato K, Kaftalli J, Herbst KL, Stuppia L, Fioretti F, Nodari S, Perrone M, Chiurazzi P, Bellinato F, Gisondi P, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E125-E141. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2754. PMID: 36479483; PMCID: PMC9710387.
Physical activity for health. Dhuli K, Naureen Z, Medori MC, Fioretti F, Caruso P, Perrone MA, Nodari S, Manganotti P, Xhufi S, Bushati M, Bozo D, Connelly ST, Herbst KL, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E150-E159. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2756. PMID: 36479484; PMCID: PMC9710390.
Chiropractic care for hypertension: Review of the literature and study of biological and genetic bases. Sullivan SG, Paolacci S, Kiani AK, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020017. doi: 10.23750/abm.v91i13-S.10524. PMID: 33170172; PMCID: PMC8023135.
Neurobiological basis of chiropractic manipulative treatment of the spine in the care of major depression. Kiani AK, Maltese PE, Dautaj A, Paolacci S, Kurti D, Picotti PM, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020006. doi: 10.23750/abm.v91i13-S.10536. PMID: 33170171; PMCID: PMC8023121.
Genetic test for the personalization of sport training. Naureen Z, Perrone M, Paolacci S, Maltese PE, Dhuli K, Kurti D, Dautaj A, Miotto R, Casadei A, Fioretti B, Beccari T, Romeo F, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020012. doi: 10.23750/abm.v91i13-S.10593. PMID: 33170162; PMCID: PMC8023127.
Genetic test for the prescription of diets in support of physical activity. Naureen Z, Miggiano GAD, Aquilanti B, Velluti V, Matera G, Gagliardi L, Zulian A, Romanelli R, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020011. doi: 10.23750/abm.v91i13-S.10584. PMID: 33170161; PMCID: PMC8023120.
Genetic test for Mendelian fatigue and muscle weakness syndromes. Kiani AK, Amato B, Maitz S, Nodari S, Benedetti S, Agostini F, Lorusso L, Capelli E, Dautaj A, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020001. doi: 10.23750/abm.v91i13-S.10642. PMID: 33170160; PMCID: PMC8023128.
Molecular foundations of chiropractic therapy. Maltese PE, Michelini S, Baronio M, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):93-102. doi: 10.23750/abm.v90i10-S.8768. PMID: 31577263; PMCID: PMC7233649.
Clinical assessment for diet prescription. Kiani AK, Medori MC, Dhuli K, Donato K, Caruso P, Fioretti F, Perrone MA, Ceccarini MR, Manganotti P, Nodari S, Codini M, Beccari T, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E102-E124. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2753. PMID: 36479490; PMCID: PMC9710416.
NEUROLOGIA
Dietary supplements in neurological diseases and brain aging. Naureen Z, Dhuli K, Medori MC, Caruso P, Manganotti P, Chiurazzi P, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E174-E188. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2759. PMID: 36479494; PMCID: PMC9710403.
Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia. Ergoren MC, Eren E, Manara E, Paolacci S, Tulay P, Sag SO, Bertelli M, Mocan G, Temel SG. Glob Med Genet. 2021 Sep;8(3):100-103. doi: 10.1055/s-0041-1725070. Epub 2021 May 21. PMID: 34430961; PMCID: PMC8378917.
The transcriptome profile of human trisomy 21 blood cells. Antonaros F, Zenatelli R, Guerri G, Bertelli M, Locatelli C, Vione B, Catapano F, Gori A, Vitale L, Pelleri MC, Ramacieri G, Cocchi G, Strippoli P, Caracausi M, Piovesan A. Hum Genomics. 2021 May 1;15(1):25. doi: 10.1186/s40246-021-00325-4. PMID: 33933170; PMCID: PMC8088681.
Immunophenotypical characterization of paraneoplastic neurological syndrome patients: a multicentric study. Lorusso L, Precone V, Hart IK, Giometto B, Pezzani R, Ngonga GK, Ngonga GKNK, Paolacci S, Ferrari D, Ricevuti G, Marshall E, Bertelli M. J Biosci. 2021;46:13. PMID: 33709965.
Genetic and physiological autonomic nervous system factors involved in failed back surgery syndrome: A review of the literature and report of nine cases treated with pulsed radiofrequency. Baronio M, Baglivo M, Natalini G, Notaro P, Dautaj A, Paolacci S, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020020. doi: 10.23750/abm.v91i13-S.10533. PMID: 33170173; PMCID: PMC8023133.
Genetic analysis of intellectual disability and autism. Chiurazzi P, Kiani AK, Miertus J, Paolacci S, Barati S, Manara E, Stuppia L, Gurrieri F, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020003. doi: 10.23750/abm.v91i13-S.10684. PMID: 33170170; PMCID: PMC8023126.
Genetic testing for autonomic dysfunction or dysautonomias. Maltese PE, Manara E, Beccari T, Dundar M, Capodicasa N, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020002. doi: 10.23750/abm.v91i13-S.10518. PMID: 33170169; PMCID: PMC8023137.
Food supplements based on palmitoylethanolamide plus hydroxytyrosol from olive tree or Bacopa monnieri extracts for neurological diseases. Kiani AK, Miggiano GAD, Aquilanti B, Velluti V, Matera G, Gagliardi L, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020007. doi: 10.23750/abm.v91i13-S.10582. PMID: 33170159; PMCID: PMC8023129.
Genetic analysis of genes associated with epilepsy. Guerri G, Castori M, D’Agruma L, Petracca A, Kurti D, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020005. doi: 10.23750/abm.v91i13-S.10596. PMID: 33170158; PMCID: PMC8023140.
Genetic analysis of genes associated with Mendelian dementia. Dautaj A, Mandarà L, Tassi V, Dhuli K, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020004. doi: 10.23750/abm.v91i13-S.10602. PMID: 33170157; PMCID: PMC8023123.
Genetics of pain: From rare Mendelian disorders to genetic predisposition to pain. Naureen Z, Lorusso L, Manganotti P, Caruso P, Mazzon G, Cecchin S, Marceddu G, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020010. doi: 10.23750/abm.v91i13-S.10682. PMID: 33170156; PMCID: PMC8023138.
Paraneoplastic Neurological Syndromes: Study of Prevalence in a Province of the Lombardy Region, Italy. Lorusso L, Precone V, Ferrari D, Ngonga GK, Russo AG, Paolacci S, Bertelli M. J Clin Med. 2020 Sep 25;9(10):3105. doi: 10.3390/jcm9103105. PMID: 32993010; PMCID: PMC7599932.
Molecular Aspects of Regional Pain Syndrome. Baronio M, Sadia H, Paolacci S, Prestamburgo D, Miotti D, Guardamagna VA, Natalini G, Sullivan SGB, Bertelli M. Pain Res Manag. 2020 Apr 11;2020:7697214. doi: 10.1155/2020/7697214. PMID: 32351641; PMCID: PMC7171689.
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. Int Heart J. 2017 Feb 7;58(1):81-87. doi: 10.1536/ihj.16-133. Epub 2016 Dec 21. PMID: 28003625.
Neurological disorders of purine and pyrimidine metabolism. Micheli V, Camici M, Tozzi MG, Ipata PL, Sestini S, Bertelli M, Pompucci G. Curr Top Med Chem. 2011;11(8):923-47. doi: 10.2174/156802611795347645. PMID: 21401501.
Quantification of chloride channel 2 (CLCN2) gene isoforms in normal versus lesion- and epilepsy-associated brain tissue. Bertelli M, Cecchin S, Lapucci C, de Gemmis P, Danieli D, d’Amore ES, Buttolo L, Giunta F, Mortini P, Pandolfo M. Biochim Biophys Acta. 2007 Jan;1772(1):15-20. doi: 10.1016/j.bbadis.2006.10.015. Epub 2006 Nov 1. Erratum in: Biochim Biophys Acta. 2007 Sep;1772(9):1117. PMID: 17156979.
METABOLOMICA E PROTEOMICA
Ion mobility mass spectrometry with surface activated chemical ionisation as a method for studying the domain of water clusters. Cristoni S, Larini M, Madama S, Zorloni I, Donato K, Paolacci S, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E289-E296. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2771. PMID: 36479485; PMCID: PMC9710415.
q value and parent energy optimization using a low-voltage ionization approach increases resolution in linear ion trap mass spectrometry. Madama S, Falletta E, Malvandi AM, Arzoni K, Brogna C, Varelli M, Bertelli M, Conti M, Larini M, Guidugli F, Traldi P, Cristoni S. J Mass Spectrom. 2022 Aug;57(8):e4876. doi: 10.1002/jms.4876. PMID: 35941810.
An improved NMR approach for metabolomics of intact serum samples. Grasso D, Pillozzi S, Tazza I, Bertelli M, Campanacci DA, Palchetti I, Bernini A. Anal Biochem. 2022 Oct 1;654:114826. doi: 10.1016/j.ab.2022.114826. Epub 2022 Jul 21. PMID: 35870512.
TARGET TERAPEUTICI
Correction to “Electrospun Nanofibrous UV Filters with Bidirectional Actuation Properties Based on Salmon Sperm DNA/Silk Fibroin for Biomedical Applications”. Ceccarini MR, Chiesa I, Ripanti F, Cardinali MA, Micalizzi S, Scattini G, De Maria C, Paciaroni A, Petrillo C, Comez L, Bertelli M, Sassi P, Pascucci L, Beccari T, Valentini L. ACS Omega. 2024 Jan 25;9(5):6025. doi: 10.1021/acsomega.4c00072. Erratum for: ACS Omega. 2023 Oct 04;8(41):38233-38242. doi: 10.1021/acsomega.3c04563. PMID: 38343979; PMCID: PMC10851252.
Electrospun Nanofibrous UV Filters with Bidirectional Actuation Properties Based on Salmon Sperm DNA/Silk Fibroin for Biomedical Applications. Ceccarini MR, Chiesa I, Ripanti F, Cardinali MA, Micalizzi S, Scattini G, De Maria C, Paciaroni A, Petrillo C, Comez L, Bertelli M, Sassi P, Pascucci L, Beccari T, Valentini L. ACS Omega. 2023 Oct 4;8(41):38233-38242. doi: 10.1021/acsomega.3c04563. Erratum in: ACS Omega. 2024 Jan 25;9(5):6025. doi: 10.1021/acsomega.4c00072. PMID: 37867705; PMCID: PMC10586176.
Validating methods for testing natural molecules on molecular pathways of interest in silico and in vitro. Dhuli K, Bonetti G, Anpilogov K, Herbst KL, Connelly ST, Bellinato F, Gisondi P, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E279-E288. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2770. PMID: 36479497; PMCID: PMC9710400.
Dietary supplements for improving nitric-oxide synthesis. Kiani AK, Bonetti G, Medori MC, Caruso P, Manganotti P, Fioretti F, Nodari S, Connelly ST, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E239-E245. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2766. PMID: 36479475; PMCID: PMC9710401.
Potential therapeutic role of pharmacological sympathectomy in Martorell ulcer. Baglivo M, Baronio M, Ngongan NAD, Romagnoli S, De Gaudio R, Bertelli M. Postepy Dermatol Alergol. 2021 Dec;38(6):1112-1114. doi: 10.5114/ada.2021.112282. Epub 2022 Jan 7. PMID: 35126024; PMCID: PMC8802976.
Hydroxytyrosol: A natural compound with promising pharmacological activities. Bertelli M, Kiani AK, Paolacci S, Manara E, Kurti D, Dhuli K, Bushati V, Miertus J, Pangallo D, Baglivo M, Beccari T, Michelini S. J Biotechnol. 2020 Feb 10;309:29-33. doi: 10.1016/j.jbiotec.2019.12.016. Epub 2019 Dec 26. PMID: 31884046.
Alpha-Mannosidosis: Therapeutic Strategies. Ceccarini MR, Codini M, Conte C, Patria F, Cataldi S, Bertelli M, Albi E, Beccari T. Int J Mol Sci. 2018 May 17;19(5):1500. doi: 10.3390/ijms19051500. PMID: 29772816; PMCID: PMC5983820.
Development of Salmon Sperm DNA/Regenerated Silk Bio-Based Films for Biomedical Studies on Human Keratinocyte HaCaT Cells under Solar Spectrum. Ceccarini MR, Ripanti F, Raggi V, Paciaroni A, Petrillo C, Comez L, Donato K, Bertelli M, Beccari T, Valentini L. J Funct Biomater. 2023 May 18;14(5):280. doi: 10.3390/jfb14050280. PMID: 37233390; PMCID: PMC10219309.
LONG-COVID
Dietary supplements for the management of COVID-19 symptoms. Bonetti G, Medori MC, Fioretti F, Farronato M, Nodari S, Lorusso L, Tartaglia GM, Farronato G, Bellinato F, Gisondi P, Connelly ST, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E221-E227. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2764. PMID: 36479480; PMCID: PMC9710408.
COVID-19 vaccine candidates and vaccine development platforms available worldwide. Duman N, ALzaidi Z, Aynekin B, Taskin D, Demirors B, Yildirim A, Sahin IO, Bilgili F, Turanli ET, Beccari T, Bertelli M, Dundar M. J Pharm Anal. 2021 Dec;11(6):675-682. doi: 10.1016/j.jpha.2021.09.004. Epub 2021 Sep 14. PMID: 34540318; PMCID: PMC8437828.
A pilot study on the preventative potential of alpha-cyclodextrin and hydroxytyrosol against SARS-CoV-2 transmission. Ergoren MC, Paolacci S, Manara E, Dautaj A, Dhuli K, Anpilogov K, Camilleri G, Suer HK, Sayan M, Tuncel G, Sultanoglu N, Farronato M, Tartaglia GM, Dundar M, Farronato G, Gunsel IS, Bertelli M, Sanlidag T. Acta Biomed. 2020 Nov 9;91(13-S):e2020022. doi: 10.23750/abm.v91i13-S.10817. PMID: 33170176; PMCID: PMC8023124.
Pilot study for the evaluation of safety profile of a potential inhibitor of SARS-CoV-2 endocytosis. Paolacci S, Ceccarini MR, Codini M, Manara E, Tezzele S, Percio M, Capodicasa N, Kroni D, Dundar M, Ergoren MC, Sanlidag T, Beccari T, Farronato M, Farronato G, Tartaglia GM, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020009. doi: 10.23750/abm.v91i13-S.10583. PMID: 33170175; PMCID: PMC8023122.
Natural compounds as inhibitors of SARS-CoV-2 endocytosis: A promising approach against COVID-19. Acta Biomed. Kiani AK, Dhuli K, Anpilogov K, Bressan S, Dautaj A, Dundar M, Beccari T, Ergoren MC, Bertelli M. 2020 Nov 9;91(13-S):e2020008. doi: 10.23750/abm.v91i13-S.10520. PMID: 33170174; PMCID: PMC8023130.
Natural small molecules as inhibitors of coronavirus lipid-dependent attachment to host cells: a possible strategy for reducing SARS-COV-2 infectivity? Baglivo M, Baronio M, Natalini G, Beccari T, Chiurazzi P, Fulcheri E, Petralia PP, Michelini S, Fiorentini G, Miggiano GA, Morresi A, Tonini G, Bertelli M. Acta Biomed. 2020 Mar 19;91(1):161-164. doi: 10.23750/abm.v91i1.9402. PMID: 32191676; PMCID: PMC7569585.
BIOINFORMATICA
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. Genes (Basel). 2021 Nov 25;12(12):1885. doi: 10.3390/genes12121885. PMID: 34946832; PMCID: PMC8700904.
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations. Cristofoli F, Daja M, Maltese PE, Guerri G, Tanzi B, Miotto R, Bonetti G, Miertus J, Chiurazzi P, Stuppia L, Gatta V, Cecchin S, Bertelli M, Marceddu G. Genes (Basel). 2023 Aug 8;14(8):1600. doi: 10.3390/genes14081600. PMID: 37628650; PMCID: PMC10454715.
Optimization of long-range PCR protocol to prepare filaggrin exon 3 libraries for PacBio long-read sequencing. Mareso C, Albion E, Cozza W, Tanzi B, Cecchin S, Gisondi P, Michelini S, Bellinato F, Michelini S, Michelini S, Bertelli M, Marceddu G. Mol Biol Rep. 2023 Apr;50(4):3119-3127. doi: 10.1007/s11033-022-08170-x. Epub 2023 Jan 24. PMID: 36692677; PMCID: PMC10042914.
A fast, reliable and easy method to detect within-species DNA contamination. Dallavilla T, Marceddu G, Casadei A, De Antoni L, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020019. doi: 10.23750/abm.v91i13-S.10531. PMID: 33170178; PMCID: PMC8023143.
appMAGI: A complete laboratory information management system for clinical diagnostics. Marceddu G, Dallavilla T, Xhuvani A, Daja M, De Antoni L, Casadei A, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020015. doi: 10.23750/abm.v91i13-S.10521. PMID: 33170177; PMCID: PMC8023141.
PacMAGI: A pipeline including accurate indel detection for the analysis of PacBio sequencing data applied to RPE65. Sorrentino E, Albion E, Modena C, Daja M, Cecchin S, Paolacci S, Miertus J, Bertelli M, Maltese PE, Chiurazzi P, Stuppia L, Colombo L, Marceddu G. Gene. 2022 Jul 20;832:146554. doi: 10.1016/j.gene.2022.146554. Epub 2022 May 13. PMID: 35569774.
BIOETICA
Ethical considerations regarding animal experimentation. Kiani AK, Pheby D, Henehan G, Brown R, Sieving P, Sykora P, Marks R, Falsini B, Capodicasa N, Miertus S, Lorusso L, Dondossola D, Tartaglia GM, Ergoren MC, Dundar M, Michelini S, Malacarne D, Bonetti G, Dautaj A, Donato K, Medori MC, Beccari T, Samaja M, Connelly ST, Martin D, Morresi A, Bacu A, Herbst KL, Kapustin M, Stuppia L, Lumer L, Farronato G, Bertelli M; INTERNATIONAL BIOETHICS STUDY GROUP. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E255-E266. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2768. PMID: 36479489; PMCID: PMC9710398.
Methodology for clinical research. Kiani AK, Naureen Z, Pheby D, Henehan G, Brown R, Sieving P, Sykora P, Marks R, Falsini B, Capodicasa N, Miertus S, Lorusso L, Dondossola D, Tartaglia GM, Ergoren MC, Dundar M, Michelini S, Malacarne D, Bonetti G, Donato K, Medori MC, Beccari T, Samaja M, Connelly ST, Martin D, Morresi A, Bacu A, Herbst KL, Kapustin M, Stuppia L, Lumer L, Farronato G, Bertelli M; INTERNATIONAL BIOETHICS STUDY GROUP. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E267-E278. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2769. PMID: 36479476; PMCID: PMC9710407.
Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test. Kiani AK, Paolacci S, Scanzano P, Michelini S, Capodicasa N, D’Agruma L, Notarangelo A, Tonini G, Piccinelli D, Farshid KR, Petralia P, Fulcheri E, Buffelli F, Chiurazzi P, Terranova C, Plotti F, Angioli R, Castori M, Pös O, Szemes T, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020021. doi: 10.23750/abm.v91i13-S.10534. PMID: 33170180; PMCID: PMC8023142.
Complications related to in vitro reproductive techniques support the implementation of natural procreative technologies. Kiani AK, Paolacci S, Scanzano P, Michelini S, Capodicasa N, D’Agruma L, Notarangelo A, Tonini G, Piccinelli D, Farshid KR, Petralia P, Fulcheri E, Chiurazzi P, Terranova C, Plotti F, Angioli R, Castori M, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020018. doi: 10.23750/abm.v91i13-S.10525. PMID: 33170179; PMCID: PMC8023144.
Comparison between American and European legislation in the therapeutical and alimentary bacteriophage usage. Naureen Z, Malacarne D, Anpilogov K, Dautaj A, Camilleri G, Cecchin S, Bressan S, Casadei A, Albion E, Sorrentino E, Beccari T, Dundar M, Bertelli M. Acta Biomed. 2020 Nov 9;91(13-S):e2020023. doi: 10.23750/abm.v91i13-S.10815. PMID: 33170166; PMCID: PMC8023134.
Ethics committees for clinical experimentation at international level with a focus on Italy. Naureen Z, Beccari T, Marks RS, Brown R, Lorusso L, Pheby D, Miertus S, Herbst KL, Stuppia L, Henehan G, Falsini B, Lumer L, Dundar M, Bertelli M, Study Group IB. Acta Biomed. 2020 Nov 9;91(13-S):e2020016. doi: 10.23750/abm.v91i13-S.10643. PMID: 33170165; PMCID: PMC8023139.
From Achille Bertelli onward: more than 100 years of research and production of dietary supplements based on natural molecules typical of the Mediterranean diet. Medeghini V, Donato K, Gaudenzi S, Bonetti G, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E1-E3. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2739. PMID: 36479496; PMCID: PMC9710410.
Diagnostic and therapeutic implements based on advanced Biotechnology should be available in low-income countries. Bertelli M, Paolacci S, Beccari T, Dundar M, Sozanski G, Miertus S, Miertus J, Luzzatto L. Acta Biomed. 2019 Sep 30;90(10-S):5-6. doi: 10.23750/abm.v90i10-S.8771. PMID: 31577247; PMCID: PMC7233641.
ALTRI LAVORI
Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family. Ergoren MC, Akcan N, Manara E, Paolacci S, Fahrioğlu U, Betmezoglu M, Bundak R, Mocan G, Temel SG, Bertelli M. Appl Immunohistochem Mol Morphol. 2022 Oct 1;30(9):635-639. doi: 10.1097/PAI.0000000000001056. Epub 2022 Sep 13. PMID: 36093893.
A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome. Cinque L, Micale L, Manara E, Esposito A, Palumbo O, Chiariello AM, Bianco S, Guerri G, Bertelli M, Giuffrida MG, Bernardini L, Notarangelo A, Nicodemi M, Castori M. Hum Genet. 2022 Feb;141(2):217-227. doi: 10.1007/s00439-021-02403-y. Epub 2021 Nov 25. PMID: 34821995.
Etiopathogenesis of sacroiliitis: implications for assessment and management. Baronio M, Sadia H, Paolacci S, Prestamburgo D, Miotti D, Guardamagna VA, Natalini G, Bertelli M. Korean J Pain. 2020 Oct 1;33(4):294-304. doi: 10.3344/kjp.2020.33.4.294. PMID: 32989194; PMCID: PMC7532300.
Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome. Temel SG, Ergoren MC, Manara E, Paolacci S, Tuncel G, Gul S, Bertelli M. Eur J Hum Genet. 2020 Dec;28(12):1675-1680. doi: 10.1038/s41431-020-0673-1. Epub 2020 Jun 18. PMID: 32555393; PMCID: PMC7784914.
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder. Gelener P, Severino M, Diker S, Teralı K, Tuncel G, Tuzlalı H, Manara E, Paolacci S, Bertelli M, Ergoren MC. Neurogenetics. 2020 Jul;21(3):179-186. doi: 10.1007/s10048-020-00610-9. Epub 2020 Apr 18. PMID: 32306145.
Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias. Miertuš J, Maltese PE, Hýblová M, Tomková E, Ďurovčíková D, Rísová V, Bertelli M. J Biotechnol. 2020 Mar 10;311:44-48. doi: 10.1016/j.jbiotec.2020.02.011. Epub 2020 Feb 25. PMID: 32109542.
Hypothyroidism and hyperthyroidism. Guerri G, Bressan S, Sartori M, Costantini A, Benedetti S, Agostini F, Tezzele S, Cecchin S, Scaramuzza A, Bertelli M. Acta Biomed. 2019 Sep 30;90(10-S):83-86. doi: 10.23750/abm.v90i10-S.8765. PMID: 31577260; PMCID: PMC7233645.
A next generation sequencing custom gene panel designed to distinguish isolated polydactyly from syndromic polydactyly during prenatal diagnosis. Paolacci S, Faletra F, Maltese PE, Quadrifoglio M, Bertelli M. Congenit Anom (Kyoto). 2019 Nov;59(6):197-198. doi: 10.1111/cga.12328. Epub 2019 Mar 5. PMID: 30767287.
Cystic Hygroma: A Preliminary Genetic Study and a Short Review from the Literature. Noia G, Maltese PE, Zampino G, D’Errico M, Cammalleri V, Convertini P, Marceddu G, Mueller M, Guerri G, Bertelli M. Lymphat Res Biol. 2019 Feb;17(1):30-39. doi: 10.1089/lrb.2017.0084. Epub 2018 Nov 22. PMID: 30475086.
Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation. Micheli V, Massarino F, Jacomelli G, Bertelli M, Corradi MR, Guerrini A, Cucchiara A, Ravetti JL, Negretti L, Cannella G. NDT Plus. 2010 Oct;3(5):436-8. doi: 10.1093/ndtplus/sfq096. Epub 2010 Jun 2. PMID: 25984046; PMCID: PMC4421695.
Gene expression and mRNA editing of serotonin receptor 2C in brains of HPRT gene knock-out mice, an animal model of Lesch-Nyhan disease. Bertelli M, Alushi B, Veicsteinas A, Jinnah HA, Micheli V. J Clin Neurosci. 2009 Aug;16(8):1061-3. doi: 10.1016/j.jocn.2008.12.011. Epub 2009 May 26. PMID: 19473847; PMCID: PMC4871153.
NAD metabolism in HPRT-deficient mice. Micheli V, Jacomelli G, Di Marcello F, Notarantonio L, Sestini S, Cerboni B, Bertelli M, Pompucci G, Jinnah HA. Metab Brain Dis. 2009 Jun;24(2):311-9. doi: 10.1007/s11011-009-9134-9. Epub 2009 Mar 25. PMID: 19319672; PMCID: PMC4876432.
Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Hladnik U, Nyhan WL, Bertelli M. Arch Neurol. 2008 Sep;65(9):1240-3. doi: 10.1001/archneur.65.9.1240. PMID: 18779430.
Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency. Parvaneh N, Teimourian S, Jacomelli G, Badalzadeh M, Bertelli M, Zakharova E, Tabatabaei P, Parvaneh L, Pourakbari B, Yeganeh M, Tamizifar B, Mamishi S, Micheli V. Clin Biochem. 2008 Mar;41(4-5):350-2. doi: 10.1016/j.clinbiochem.2007.11.007. Epub 2007 Nov 21. PMID: 18067860.
Real-time PCR and linkage studies to identify carriers presenting HPRT deleted gene. Lapucci C, Montin DP, Pandolfo M, Bertelli M. Mol Med. 2006 Sep-Oct;12(9-10):246-51. doi: 10.2119/2005-00046.Lapucci. PMID: 17225873; PMCID: PMC1770009.
A real-time PCR approach to evaluate adipogenic potential of amniotic fluid-derived human mesenchymal stem cells. De Gemmis P, Lapucci C, Bertelli M, Tognetto A, Fanin E, Vettor R, Pagano C, Pandolfo M, Fabbri A. Stem Cells Dev. 2006 Oct;15(5):719-28. doi: 10.1089/scd.2006.15.719. PMID: 17105407.
Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease). Bertelli M, Cecchin S, Lapucci C, Jacomelli G, Jinnah HA, Pandolfo M, Micheli V. Clin Chim Acta. 2006 Nov;373(1-2):104-7. doi: 10.1016/j.cca.2006.05.013. Epub 2006 May 17. PMID: 16793031.
TARGET TERAPEUTICI
Dietary supplements in neurological diseases and brain aging. Naureen Z, Dhuli K, Medori MC, Caruso P, Manganotti P, Chiurazzi P, Bertelli M. J Prev Med Hyg. 2022 Oct 17;63(2 Suppl 3):E174-E188. doi: 10.15167/2421-4248/jpmh2022.63.2S3.2759. PMID: 36479494; PMCID: PMC9710403.
LIPEDEMA
Genotypic and Phenotypic Characterization of a Cohort of Patients Affected by Rod Cyclic Nucleotide Channel-Associated Retinitis Pigmentosa. Colombo L, Bonetti G, Maltese PE, Iarossi G, Ziccardi L, Fogagnolo P, De Ruvo V, Murro V, Giorgio D, Falsini B, Placidi G, Martella S, Galantin E, Bertelli M, Rossetti L. Ophthalmic Res. 2024;67(1):301-310. doi: 10.1159/000538746. Epub 2024 May 7. PMID: 38705136.