Produzione scientifica

 

ARTICOLI SCIENTIFICI

 

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

 

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. doi: 10.1016/j.jvs.2017.02.034. [Epub ahead of print] PubMed 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). doi: 10.4238/gmr16019581. 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). doi: 10.4238/gmr16019466. 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. doi: 10.1080/13816810.2016.1253107. [Epub ahead of print] 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. doi: 10.1536/ihj.16-133. [Epub ahead of print] PMID: 28003625 Free Article

 

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  

 

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. doi: 10.1089/gtmb.2016.0257. 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). doi: 10.4238/gmr.15038718. 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). doi: 10.4238/gmr.15038717. 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. doi: 10.18632/oncotarget.9797. [Epub ahead of print] PMID: 27276711 Free Article

 

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 

 

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. PMID: 26075083 Free PMC Article

 

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. PMID: 26535647 Free Article

 

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. PMID: 26125716 Free Article

 

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. PMID: 25366773 Free Article

 

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. PMID: 23096905 Free Article

 

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. PMID: 25984046 Free PMC Article

 

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. PMID: 19473847 Free PMC Article

 

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

 

 

ULTIME PARTECIPAZIONI A CONGRESSI SCIENTIFICI

“LYMPHADAY: LYMPHEDEMA AWARENESS DAY” - 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

LA NEXT GENERATION SEQUENCING NELLA DIAGNOSI DELLA LND

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. Iarossi1, P. Maltese2, E. Gusson3, G. Catena1, L. Ziccardi4

Department of Ophthalmology, Bambino Gesù Children’s Hospital, Rome, Italy1; MAGI’s Laboratory (MAGI Non-Profit Human Medical Genetics Institute), Rovereto, Italy2; Pediatric Ophthalmology Service, “Policlinico GB Rossi”, Verona, Italy3; G.B. Bietti" Foundation for Study and Research in Ophthalmology, Rome, Italy4

MOLECULAR DIAGNOSIS OF INHERITED RETINAL DYSTROPHIES: NEW CHALLENGES IN THE NGS ERA

Fabiana D’Esposito MD, PhD ,1,2 Giulia Guerri PhD, 2 Monia Zuntini PhD,2 Alice Bruson PhD,3 Matteo Bertelli MD, PhD 2,3 

1 DAI “Testa-Collo”, Università degli Studi di Napoli “Federico II”, Italy. 2 MAGI-Euregio SCS Onlus, Bolzano, Italy. 3Magi’s Lab Human Medical Genetics Institute, Rovereto (TN), Italy.

 

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

* MAGI non-profit Human Medical Genetics Institute. Pilot centre for research, diagnosis and care of rare genetic diseases, Rovereto, Italy

Our Experience in Primary Lymphedema Genetics Studies

Sandro Michelini

Department of Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Italy

 

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 Bertelli1, Raul Ettore Mattassi2, Maurizio Ricci3, Daniela Tavian4, Sandro Michelini 5

1Magi’s Lab Human Medical Genetics Institute, Rovereto (TN), Italy

2Center for Vascular Malformations, Castellanza (VA), Italy, 3Laboratory of clinical Analysis; Clinical Institute Humanitas, Castellanza (VA), Italy.

3Medicina Riabilitativa, Azienda Ospedaliero-Universitaria Ospedali Riuniti di Ancona, Torrette, Italy

4Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan, Italy

5Department of Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Italy

 

14° Congresso Internazionale SOI – Milano, 18-21 maggio 2016 – SESSIONE 13 - SIMPOSIO SOI – Oculistica e malattie rare - AUDITORIUM - MiCo – Milano Congressi Ala Sud • 19 maggio 2016

1)Coinvolgimento dell’apparato visivo

Bertelli M.*

* MAGI non-profit Human Medical Genetics Institute. Pilot centre for research, diagnosis and care of rare genetic diseases, Rovereto, Italy

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

Bertelli M.*

* MAGI non-profit Human Medical Genetics Institute. Pilot centre for research, diagnosis and care of rare genetic diseases, Rovereto, Italy

 

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

Il punto sulla genetica

DOTT. S. MICHELINI/DOTT. M. BERTELLI

 

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.**

* Laboratory Of Molecular Genetics, International Association of Medical Genetics, MAGI onlus, Rovereto, Italy

** Department of Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Italy 

 

ESHG Conference c/o Vienna Medical Academy, June 6-9 2015, Poster session

Pathogenic potential of FOXC2 mutations identified in patients with primary lymphedema

Tavian D1, Missaglia S1, Michelini S2, Ricci M3,……………………..Bertelli M4

1Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan, Italy

2Department of Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Italy

3Medicina Riabilitativa, Azienda Ospedaliero-Universitaria Ospedali Riuniti di Ancona, Torrette, Italy

4Laboratory of Molecular Genetics, International Association of Medical Genetics, MAGI-onlus, Rovereto, Italy

 

3° CONGRESSO NAZIONALE SISAV: IL PUNTO SULLE ANOMALIE VASCOLARI, Centro Congressi "Federico II" NAPOLI  • 13 Novembre 2015

Diagnosi molecolare delle Malformazioni Vascolari

Bertelli M.*

* MAGI non-profit Human Medical Genetics Institute. Pilot centre for research, diagnosis and care of rare genetic diseases, Rovereto, Italy

 

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**. 

*Department of Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Italy

** Laboratory Of Molecular Genetics, International Association of Medical Genetics, MAGI onlus, Rovereto, Italy

 

Congresso MALFORMAZIONI VASCOLARI DELL’ARTO SUPERIORE - CENTRO CONGRESSI ISTITUTO CLINICO HUMANITAS – Via Manzoni113,20089 Rozzano MI • 27 MARZO 2015

Basi genetiche delle Malformazioni Vascolari

Bertelli M.*

* MAGI non-profit Human Medical Genetics Institute. Pilot centre for research, diagnosis and care of rare genetic diseases, Rovereto, Italy

 

LE PATOLOGIE VASCOLARI CONGENITE: DALLA DIAGNOSI ALLA GESTIONE DELLA MALATTIA VASCOLARE RARA - FONDAZIONE ALESSANDRA BISCEGLIA W ALE Onlus, Roma • 10 ottobre 2015

Gli aspetti genetici delle Malformazioni linfatiche eredo-familiari e sporadiche

Bertelli M.*

* MAGI non-profit Human Medical Genetics Institute. Pilot centre for research, diagnosis and care of rare genetic diseases, Rovereto, Italy

 

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.*

* MAGI non-profit Human Medical Genetics Institute. Pilot centre for research, diagnosis and care of rare genetic diseases, Rovereto, Italy

 

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 A1, Ziccardi L2, D'Agruma L3, Cecchin S1, Palumbo O3,  Benedetti S1, Rendina M3, Bertelli M1

1Magi’s Lab Istituto per la diagnosi, ricerca e cura delle malattie genetiche e rare, Rovereto, Italy

2Neurophthalmology Unit , IRCCS Fondazione Bietti, Roma, Italy

3Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy

Panel-Based Next Generation Sequencingas an efficient technique to detect mutations in Italian patients with retinitis pigmentosa

Zuntini M,1 Pierrottet CO,2 Tezzele S,1 Sirocco F,1 Nicoletti A,1 El Shamieh S,3 Audo I,3 Orzalesi N,3 Zeitz C3 and Bertelli M1

1Magi’s Lab Istituto per la diagnosi, ricerca e cura delle malattie genetiche e rare, Rovereto, Italy

2Dipartimento di Oftalmologia, Ospedale San Paolo, Milano

3INSERM, U968, Paris F-75012, France

Genetic test in the diagnosis of congenital vascular malformations

Bruson A,1 Mattassi RE,2 Porcella A,3 Benedetti S,1 Cecchin S1 and Bertelli M1

1Magi’s Lab Istituto per la diagnosi, ricerca e cura delle malattie genetiche e rare, Rovereto, Italy

2Center of vascular malformationms “Stefan Belov”; Clinical Institute Humanitas Mater Domini, Castellanza (VA)

3Laboratory of clinical analysis; Clinical Institute Humanitas Mater Domini, Castellanza (VA)

 

24th International Society of Lymphology (ISL) Congress 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.**

*San Giovanni Battista Hospital - ACISMOM, Rome, Italy; **MAGI’s Lab, Rovereto, Italy

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.**

* MAGI non-profit Human Medical Genetics Institute. Pilot centre for research, diagnosis and care of rare genetic diseases, Rovereto, Italy; ** San Giovanni Battista Hospital - ACISMOM, Degenza e Day Hospital Vascolare, Rome, Italy