Scientific Production



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 Apr 18.
DOI: 10.1007/s10048-020-00610-9
PMID: 32306145


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


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.
PMID: 32109542


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.
PMID: 31884046


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.
PMID: 31794783


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. 2019 Nov 20.
DOI: 10.1002/ajmg.b.32771
PMID: 31746551


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. 2019 Nov 20.
DOI: 10.1089/lrb.2019.0052
PMID: 31730410


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). pii: E2461.
PMID: 31618812 Free Article


Cardiovascular Diseases (Part A) | Infertility and Metabolic Syndromes (Part B).
Guest Editor: Matteo Bertelli, Stefano Paolacci
Acta Biomed. Vol 90 No 10-S (2019)


Analysis of machine learning algorithms as integrative tools for validation of next generation sequencing data.
Marceddu G, Dallavilla T, Guerri G, Zulian A, Marinelli C, Bertelli M.
Eur Rev Med Pharmacol Sci. 2019 Sep;23(18):8139-8147.
DOI: 10.26355/eurrev_201909_19034
PMID: 31599443

Free Article


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.
PMID: 31570112


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. 2019 Sep 30:1120672119879392.
PMID: 31566003


Putative role of Brugada syndrome genes in familial atrial fibrillation.
Maltese PE, Aldanova E, Kriuchkova N, Averianov A, Manara E, Paolacci S, Bruson A, Miotto R, Sartori M, Guerri G, Zuntini M, Marceddu G, Tezzele S, Tadtaeva K, Chernova A, Aksyutina N, Nikulina S, Nodari S, Bertelli M.
Eur Rev Med Pharmacol Sci. 2019 Sep;23(17):7582-7598.
PMID: 31539150


PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics.
Marceddu G, Dallavilla T, Guerri G, Manara E, Chiurazzi P, Bertelli M.
Eur Rev Med Pharmacol Sci. 2019 Aug;23(15):6753-6765.
PMID: 31378919


Genetics of lipedema: new perspectives on genetic research and molecular diagnoses.
Paolacci S, Precone V, Acquaviva F, Chiurazzi P, Fulcheri E, Pinelli M, Buffelli F, Michelini S, Herbst KL, Unfer V, Bertelli M; GeneOb Project.
Eur Rev Med Pharmacol Sci. 2019 Jul;23(13):5581-5594.
PMID: 31298310


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.
10.1186/s13052-019-0659-1Free PMC Article
PMID: 31196119


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 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 BBertelli M.
Int Angiol. 2019 Apr 1.
PMID: 30938497


Genetic background, nutrition and obesity: a review.
Vettori A, Pompucci G, Paolini B, Del Ciondolo I, Bressan S, Dundar M, Kenanoğlu S, Unfer VBertelli M; Geneob Project.
Eur Rev Med Pharmacol Sci. 2019 Feb;23(4):1751-1761.
10.26355/eurrev_201902_17137 Free Article
PMID: 30840300 


Taste, olfactory and texture related genes and food choices: implications on health status.
Precone V, Beccari T, Stuppia L, Baglivo M, Paolacci S, Manara E, Miggiano GAD, Falsini B, Trifirò A, Zanlari A, Herbst KL, Unfer V, Bertelli M; Geneob Project.
Eur Rev Med Pharmacol Sci. 2019 Feb;23(3):1305-1321.


Mendelian obesity, molecular pathways and pharmacological therapies: a review.
Paolacci S, Borrelli A, Stuppia L, Campanile FC, Dallavilla T, Krajčovič J, Veselenyiova D, Beccari T, Unfer V, Bertelli M; Geneob Project.
Eur Rev Med Pharmacol Sci. 2019 Feb;23(3):1357-1378.


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 Feb 15.


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. 2018 Nov  22.
PMID: 30475086.


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 Sep 4.
PMID: 30184081.


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.
PMID: 30073356.


Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report
Angelo Maria Minnella, Valeria Pagliei, Maria Cristina Savastano, Matteo Federici, Matteo Bertelli, Paolo Enrico Maltese, Giorgio Placidi, Giovanni Corbo, Benedetto Falsini and Aldo Caporossi
Journal of Medical Case Reports  (2018) 12:287
10.1186/s13256-018-1819-4 Free PMC Article


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. 2018 Sep 26. pii: S1769-7212(18)30300-8.
PMID: 30267901


EBTJ: Volume 2, Issue s1 (Sep 2018) EBTNA Utility Gene Test on Cardiovascular Disorders


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 Aug 3:1-7.
PMID: 30078014


Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study
L. Colombo, G. Montesano, B. Sala, F. Patelli, P. E. Maltese, A. Abeshi, M. Bertelli, L. Rossetti.
BMC Ophthalmol. 2018 Jun 26;18(1):153.
10.1186/s12886-018-0817-z Free PMC Article
PMID: 29940899 


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). pii: E1500.
10.3390/ijms19051500 Free PMC Article
PMID: 29772816  


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.
PMID: 29440349


Clinical and molecular findings in an Albanian family with familial adenomatous polyposis
P. E. Maltese, G. Di Saverio, E. Manara, F. Fanelli, N. Capodicasa, D. Guraj, I. Shehaj, B. Amato, A. Babameto-Laku, S. Michelini, M. Bertelli.
Genetics and Molecular Research 16 (4): gmr16039823.


AluYb8 insertion in the WNK1 gene is not associated with hypertension in a Russian Caucasian population.
Elmira Akhmedova, Svetlana Y. Nikulina, Alla B. Salmina, Anna Chernova, Marina Bazanova, Anna Ohapkina, Aleksey Semenchukov, Paolo E. Maltese, Elena Manara and Matteo Bertelli.
Genet. Mol. Res. 16 (4): gmr16039809.


A targeted NGS approach to identify a c.352C>G variant in the TWIST1 gene in an Albanian family with Saethre–Chotzen syndrome.
Elena Manara, Denisa Guraj, Francesca Fanelli, Paolo E. Maltese, Anila Babameto-Laku, Natale Capodicasa, Sandro Michelini, Bruno Amato, Matteo Bertelli
Genet. Mol. Res. 16 (4): gmr16039828.


EBTJ: Volume 1, Issue s2 (Dec 2017) MAGI group activity - Research, diagnosis and treatment of genetic and rare diseases


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. 2017 Nov 25.
PMID: 29178665


EBTJ: Volume 1, Issue s1 (Oct 2017) EBTNA Utility Gene Test on Ophthalmology. 


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.
10.1155/2017/3643495 Free PMC Article
PMID: 28912967


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, Antonino C, Tezzele S, Bertelli M.
Eur J Med Genet. 2017 Oct 24. pii: S1769-7212(17)30484-6.


Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy
Said El Shamieh , Cécile Méjécase , Matteo Bertelli , Angélique Terray , Christelle Michiels , Christel Condroyer, Stéphane Fouquet,Maxime Sadoun, Emmanuelle Clérin , Binqian Liu , Thierry Léveillard, Olivier Goureau, José-Alain Sahel, Isabelle Audo  and Christina Zeitz
Genes 2017, 8(10), 277;
10.3390/genes8100277 Free PMC Article
PMID: 29057815


Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy,
Giancarlo Iarossi, Matteo Bertelli, Paolo Enrico Maltese, Elena Gusson, Giorgio Marchini, Alice Bruson, Sabrina Benedetti, Sabrina Volpetti, Gino Catena, Luca Buzzonetti, and Lucia Ziccardi
Journal of Ophthalmology 2017: Volume 2017 (2017), Article ID 3080245, 10 pages
10.1155/2017/3080245 Free PMC Article
PMID: 28758032


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. 2017 Jun 24. pii: S0741-5214(17)30909-6.
PMID: 28655553


TNFR1 -383 A˃C polymorphism and ankylosing spondylitis in a Russian Caucasian population: a preliminary study.
Mordovskii V, Semenchukov A, Nikulina SY, Salmina AB, Chernova A, Kapustina E, Kents A, Ohapkina A, Moskaleva E, Maltese PE, Convertini P, Bertelli M.
Genet Mol Res. 2017 Mar 30;16(1).
PMID: 28363009


Genetic tests for low- and middle-income countries: a literature review.
Maltese PE, Poplavskaia E, Malyutkina I, Sirocco F, Bonizzato A, Capodicasa N, Nicoulina SY, Salmina A, Aksutina N, Dundar M, Beccari T, Cecchin S, Bertelli M.
Genet Mol Res. 2017 Feb 8;16(1).
PMID: 28198508


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 Feb 1:1-7.
PMID: 28145787


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. 2016 Dec 21.
10.1536/ihj.16-133 Free full text
PMID: 28003625 


Genetic screening in a large cohort of Italian Patients affected by primary lymphedema using a next generation sequencing (NGS) approach
S Michelini, A Vettori, PE Maltese, M Cardone, A Bruson, A Fiorentino, F Cappellino, V Sainato, G Guerri, G Marceddu, S Tezzele, M Bertelli
Lymphology 2016:49(3):165-165  
PMID: 29906362


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. 2016 Dec 20.
10.1089/gtmb.2016.0257 Free PMC Article
PMID: 27997221


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.
Genet Mol Res. 2016 Aug  19;15(3).
PMID: 27706562.


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.
Genet Mol Res. 2016 Jul 29;15(3).
PMID: 27525900.


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.
PMID: 27415794


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 Jun 2.
10.18632/oncotarget.9797 Free PMC Article
PMID: 27276711


A rare case of Emberger syndrome caused by a de novo mutation in the GATA2 Gene
S Michelini, M Cardone, M Haag O Agga, A Bruson, PE Maltese, A Bonizzato, M Bertelli
Lymphology 2016:49(1):15-20 
PMID: 29906059


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.
J Ophthalmol. 2015;2015:189140.
10.1155/2015/189140 Free PMC Article
PMID: 26075083 


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.
Genet Mol Res. 2015 Oct 27;14(4):13337-41.
10.4238/2015.October.26.30 Free full text
PMID: 26535647


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.
PMID: 25908487


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.
Genet Mol Res. 2015 May 18;14(2):5221-8.
10.4238/2015.May.18.13 Free full text
PMID: 26125716


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.
Genet Mol Res. 2014 Oct 27;13(4):8815-33.
10.4238/2014.October.27.23 Free full text
PMID: 25366773 


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.
Panminerva Med. 2013 Jun;55(2):217-24.
PMID: 23676962


Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease.
Oldani M, Marchi S, Giani A, Cecchin S, Rigoni E, Persi A, Podavini D, Guerrini A, Nervegna A, Staurenghi G, Bertelli M.
Genet Mol Res. 2012 Dec 17;11(4):4342-50. 
10.4238/2012.October.9.3 Free full text
PMID: 23096905 


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.
Lymphology. 2012 Mar;45(1):3-12. Erratum in: Lymphology. 2012 Jun;45(2):87. 
PMID: 22768468


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. 
10.1093/ndtplus/sfq096 Free PMC Article
PMID: 25984046 


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. 
10.1016/j.jocn.2008.12.011 Free PMC Article
PMID: 19473847 


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.
PMID: 19504610




Giornata Mondiale del Linfedema – Pianeta Linfedema
Roma, Auditorium Ministero della Salute • 06 marzo 2019

Quando è indicato chiedere l’analisi genetica e quali sono le implicazioni cliniche
M. Bertelli


30 Novembre - 1 Dicembre 2018
La Linfologia al Servizio del Paziente
M. Bertelli


Fondazione Policlinico Agostino Gemelli, Roma
• 06 marzo 2017 
Tavola Rotonda 

M. Bertelli


Società Italiana Di Flebolinfologia - Congresso Nazionale Del Trentennale
Ferrara, Palazzo della Racchetta • 20 - 21 - 22 ottobre 2016

Aspetti genetici nel linfedema
M. Bertelli


La Malattia di Lesh-Nyhan. Nuove prospettive nella descrizione e nell'approccio diagnostico, terapeutico e assistenziale
Siena • 15 ottobre 2016 Presidio Didattico Università Aula 6 Ospedale Santa Maria alle Scotte Viale Bracci – Siena

M. Bertelli


Joint Meeting neuroprotezione e neuro-enhancement nel sistema visivo: dalla retina alla corteccia
Roma • 7 ottobre 2016. Università Cattolica del S. Cuore, Fondazione Policlinico A. Gemelli - Aula Brasca

Diagnostica molecolare delle eredo-retinopatie degenerative e del glaucoma
M. Bertelli


Congresso SISAV
Reggio Emilia • 15/17 Settembre 2016

Le Mutazioni somatihe nelle Malformazioni vascolari
M. Bertelli


16th Euretina  Congress
Copenhagen • 8-16 settembre  2016

Genotype-phenotype characterization of novel variants in five Italian patients with familial exudative vitreoretinopathy
G. Iarossi, P. Maltese, E. Gusson, G. Catena, L. Ziccardi

Fabiana D’Esposito MD, PhD , Giulia Guerri PhD, Monia Zuntini PhD, Alice Bruson PhD, Matteo Bertelli MD, PhD


The 42nd Congress of European Society of Lymphology
Mulhouse, France • May 13th -14th, 2016

FOXC2 Disease-Mutation Identified in Lymphedema-Distichiasis Display an Impressive Modulation ofTranscriptional Activity
Matteo Bertelli


The 21st International Workshop on Vascular Anomalies (ISSVA 2016)
Buenos Aires, Argentina • April 26-29, 2016

Functional chatacterization of FOXC2 mutations identified in patients with primary lymphedema
Matteo Bertelli, Raul Ettore Mattassi, Maurizio Ricci, Daniela Tavian, Sandro Michelini


14° Congresso Internazionale SOI
Milano, 18-21 maggio 2016
SESSIONE 13 - SIMPOSIO SOI – Oculistica e malattie rare - AUDITORIUM - MiCo

1)Coinvolgimento dell’apparato visivo
Bertelli M.

2)Diagnostica molecolare: stato dell'arte – Next Generation Sequencing
Bertelli M.


Sweet Meeting – Incontro tecnico-scientifico del Gruppo di Studio Edema (SIMFER)
Garda (VR) • 15 aprile 2016

Il punto sulla genetica
Michelini S., Bertelli M.


II° Edizione Retinitaly – Retinologi a confronto
Brescia • 31 marzo-1 aprile 2016

Cosa devo fare davanti ad un paziente con sospetta eredodistrofia? Che esami ha senso prescrivere? Far fare il test genetico? E come?
Matteo Bertelli, Fabiana D’Esposito, Emilia Maggio, Barbara Parolini


1° Congresso Nazionale ITALF
Terni • 4 – 5 Dicembre 2015

Che sappiamo della genetica del Linfedema primario?
Bertelli M., Michelini S.


ESHG Conference
Vienna Medical Academy • June 6-9 2015, Poster session

Pathogenic potential of FOXC2 mutations identified in patients with primary lymphedema
Tavian D, Missaglia S, Michelini S, Ricci M,  Bertelli M


Centro Congressi "Federico II", NAPOLI • 13 Novembre 2015

Diagnosi molecolare delle Malformazioni Vascolari
Bertelli M


25th World Congress of Lymphology
Hilton Union Square, San Francisco, California • 7-11 settembre 2015

Actual Genetics knowledge in primary Lymphoedema
Michelini Sandro, Bruson Alice, Cardone Marco, Sirocco Francesco, Fiorentino Alessandro, Cecchin Stefano, Sainato Vincenzo, Paolo Maltese, Bertelli Matteo



Basi genetiche delle Malformazioni Vascolari
Bertelli M



Gli aspetti genetici delle Malformazioni linfatiche eredo-familiari e sporadiche
Bertelli M


XIX Congresso Nazionale societa' italiana trapianto di cornea (S.I.TRA.C.)
Roma, Università Cattolica del Sacro Cuore, Auditorium e Centro Congressi Europa • 19 al 21 febbraio 2015
I geni e il loro ruolo: introduzione
Bertelli M


ESHG Congress 2014 The European Society of Human Genetics
Milano, 31 maggio - 3 giugno 2014. Poster session.

RS1 gene exon 2 deletion in a large pedigree with X-linked juvenile retinoschisis
Nicoletti A, Ziccardi L, D'Agruma L, Cecchin S, Palumbo O,  Benedetti S, Rendina , Bertelli M

Panel-Based Next Generation Sequencingas an efficient technique to detect mutations in Italian patients with retinitis pigmentosa
Zuntini M, Pierrottet CO, Tezzele S, Sirocco F, Nicoletti A, El Shamieh S, Audo I, Orzalesi N, Zeitz C and Bertelli M

Genetic test in the diagnosis of congenital vascular malformations
Bruson A, Mattassi RE, Porcella A, Benedetti S, Cecchin S and Bertelli M


24th International Society of Lymphology (ISL)
Rome, Italy •16-20 September 2013

Familial, sporadic and syndromic lymphœdema: genetics aspects
Michelini S., Cardone M., Cecchin S., Zuntini M., Sirocco F., Sainato V., Fiorentino A., Bertelli M.

European project to promote the use of gene tests for primary lymphedema and hereditary vascular malformations
Bertelli M., Cardone M., Cecchin S., Zuntini M., Sirocco F., Malacarne D., Sainato V., Fiorentino A., Cappellino F., Michelini S.