Università degli studi di Pavia
Contenuto della pagina
Novara pubblicazioni
ABSTRACT:
Paulis M, Novara F, Lodola M, Bensi M, De Carli L, Raimondi E. Identificazione di una nuova famiglia di dupliconi sul cromosoma 9 umano che ha dato origine ad un cromosoma marcatore soprannumerario con meccanismo somatico. X Congresso Nazionale SIGU, Chia (Ca), 2005.
Novara F, Paulis M, Lodola M, De Carli L, Raimondi E. A set of new duplicons isolated from human chromosome 9 plays a role in driving primate chromosome evolution. 7° Convegno FISV, Riva del Garda, 2005.
Lodola M, Paulis M, Novara F, De Carli L, Raimondi E. Identification of a set of new duplicons on human chromosome 9: their involvement in the origin of a supernumerary marker chromosome via somatic mechanisms. ICGEB, Trieste, 2005.
Paulis M, Novara F, Lodola M, De Carli L, Raimondi E. A set of new duplicons isolated from human chromosome 9 plays a role in driving primate chromosome evolution. ICGEB, Trieste, 2005.
De Gregori M, Pramparo T, Gimelli S, Messa J, Novara F, Ciccone R, Maraschio P, Calabrese G, Belli S, Bonaglia MC, Zatterale A, Ferrero GB, Riegel M, Schinzel A, Zuffardi O. Multiple deletions at the breakpoints of chromosome rearrangements. 2nd International Meeting on Cryptic Chromosomal rearrangements in Mental Retardation and Autism, Troina, 2006.
Ciccone R, De Gregori M, Gimelli S, Messa J, Novara F, Zuffardi O. Array-CGH e ritardo mentale idiopatico: risultati su 384 pazienti con cariotipo normale. IX Congresso Nazionale SIGU, Lido di Venezia, 2006.
Pramparo T, Guerrini R, Novara F, Zuffardi O. Array−CGH: la tecnica di elezione per studiare pazienti con malformazioni della corteccia cerebrale ed epilessia. XIV Convention Scientifica Telethon, Salsomaggiore Terme, 2007.
Bernardo ME, Villa R, Novara F, Cometa A, Avanzini MA, Moretta A, Maccario R, Daidone MG, Zaffaroni N, Zuffardi O, Locatelli F. Human bone marrow-derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not express telomerase activity. EBMT 2007 Congress, Lyon, 2007.
Novara F, Pramparo T, Guerrini R, Dalla Bernardina B, Zuffardi O. Results of array-CGH performed on 100 patients with normal karyotype, cerebral cortex malformations and/or epilepsy. 3th International Meeting on Cryptic Chromosomal rearrangements in Mental Retardation and Autism, Troina, 2007.
Novara F, Pramparo T, Guerrini R, Dalla Bernardina B, Zuffardi O. Chromosomal imbalances detected in patients with cerebral cortex malformations and epilepsy through array−CGH technique. ESGH Conference 2007, Nice, 2007.
De Gregori M, Ciccone R, Cifuentes F, Pramparo T, Magini P, Gimelli S, Vermeesch J, Messa J, Novara F, Maraschio P, Bonaglia M, Ferrero G, Silengo M, Zatterale A, Belli S, Ferlini A, Calabrese G, Mattina T, Bernardi F, Riege M, Rocchi M, Schinzel A, Zuffardi O. Multiple cryptic deletions are a common finding in “balanced” complex chromosome rearrangements: a study of seventeen cases. ESGH Conference 2007, Nice, 2007.
Novara F, Pramparo T, Dalla Bernardina B, Torniero C, Marini C, Ciccone R, Guerrini R, Zuffardi O. Sbilanciamenti cromosomici criptici, evidenziati tramite array-CGH, in 126 pazienti con difetti di migrazione neuronale e/o epilessia. X Congresso Nazionale SIGU, Montecatini Terme, 2007.
Novara F, Bernardo ME, Cometa A, Zuffardi O, Locatelli F. Risultati di uno studio di array-CGH in pazienti con leucemia linfoblastica acuta infantile. X Congresso Nazionale SIGU, Montecatini Terme, 2007.
De Gregori M, Ciccone R, Magini P, Gimelli S, Rossi E, Novara F, Vetro A, Messa J, Maraschio P, Schinzel A, Vermeesch J, Zuffardi O. delezioni criptiche sono comuni nelle traslocazioni reciproche complesse apparentemente bilanciate: studio sistemico di 59 casi. X Congresso Nazionale SIGU, Montecatini Terme, 2007.
Novara F, Arcaini L, Merli M, Passamonti F, Zibellini S, Montanari F, Rizzi S, Rumi E, Pascutto C, Paulli M, Zuffardi O, Lazzarino M. High resolution array-CGH in splenic marginal zone B-cell lymphoma: correlation of copy number imbalances with HCV status and prognostic categories. ASH, Atlanta, 2007.
Bernardo ME , Cometa AM, Villa R, Novara F, Moretta A, Avanzini MA, Maccario R, Dandone MG, Zaffarono N, Zuffardi O, Locatelli F. Human bone marrow-derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms. ASH, Atlanta, 2007.
Novara F, Beri S, Bernardo ME, Cometa AM, Locatelli F, Giorda R e Zuffardi O. Quali meccanismi molecolari potrebbero mediare la delezione del locus 9p21 nella leucemia linfoblastica acuta infantile? SIGU, Genova, 2008.
Giorda R, Bonaglia MC, Beri S, Novara F, Marelli S, Bonnet C, Jonveaux P, Dalla Bernardina B, Torniero C, Darra F, Bova S, Rusconi M, Spaccini L, Fiocchi I, Mastrangelo M, Zuffardi O. Duplicazioni segmentali complesse mediano dup(X)(p11.22-23) ricorrenti associate a ritardo mentale e lievi dismorfismi. SIGU, Genova, 2008.
Torniero C, Dalla Bernardina B, Novara F, Danesino C, Zuffardi O. Descrizione di un nuovo caso di delezione Xp22. 13, comprendente il gene CDKL5. SIGU, Genova, 2008.
Bernardo ME, Avanzini MA, Ciccocioppo R, Perotti C, Cometa AM, Moretta A, Valli M, Novara F, Maccario R, Corazza GR, Locatelli F. Phenotypical and Functional Characterization of in Vitro Expanded Bone Marrow-Derived Mesenchymal Stromal Cells from Patients with Crohn’s Disease. ASH, San Francisco, 2008.
Bernardo ME, Avanzini MA, Perotti C, Cometa AM, Zaffaroni N, Novara F, Moretta A, del Fante C, Maccario R, Fibbe WE, Locatelli F. Phenotypical and Functional Characterization of Umbilical Cord Blood-Derived Mesenchymal Stromal Cells Expanded in the Presence of Platelet Lysate and Comparison with Their Bone Marrow-Derived Counterpart. ASH, San Francisco, 2008.
Marini C, Novara F, Dalla Bernardina B, Gana S, Torniero C, Parrini E, Mei D, Ferrari A, Darra F, Pramparo T, Zuffardi O, Guerrini R. Epilepsy, mental retardation and developmental abnormalities: cryptic genomic imbalances detected by whole genome array-CGH. IEC, Budapest, 2009.
Novara F, Marini C, Torniero C, Gana S, Parrini E, Mei D, Ferrari A, Dalla Bernardina B, Guerrini R, Zuffardi O, Pramparo T. Array−CGH: election technique to study cerebral cortex malformations and epilepsy. Telethon Covention, Riva del Garda (TN), 2009.
Novara F, Bonaglia MC, Marini C, Giglio S, Zuffardi O, Guerrini R. New regions for periventricular heterotopia: 4p15.3-p14, 6p25 and 6q27. 5th International Meeting on Cryptic Chromosomal rearrangements in Mental Retardation and Autism, Troina, 2009.
Novara F, Gana S, Barba C, Guerrini R, Zuffardi O. Epilessia farmaco-resistente in un paziente con rec(4) dup(4) da inversione pericentrica di origine materna. SIGU, Torino, 2009.
Novara F, Fontana E, Torniero C, Dalla Bernardina B, Van Esch H, Zuffardi O. MEF2C: un nuovo gene-epilessia per una nuova sindrome da microdelezione. SIGU, Torino, 2009.
Giuliani N, Novara F, Todoerti K, Zaffaroni N, Villa R, Storti P, Bernardo ME, Manferdini C, Gabusi E, Abeltino M, Bolzoni M, Agnelli L, Rocci A, Colla S, Sammarelli G, Rizzoli V, Zuffardi O, Neri A, Lisignoli G. Are The myeloma bone microevironment cells tumoral or not? ASH, New Orleans, 2009.
Bianchessi D, Eoli M, Salsano E, Natacci F, Saletti V, Guzzetti S, Novara F, Riva D, Lalatta F, Finocchiaro G. Un programma integrato di diagnosi molecolare nella neurofibromatosi di tipo I. XIV Congresso Nazionale dell’Associazione Italiana di Neuro-Oncologia (AINO). Padova, 2009.
Giglio S, Romano S, Novara F, Sani I, Bonaglia MC, Falchi M, Guarducci S, Pantaleo M, Guerrini R, Zuffardi O. A de novo 22q13 mosaic deletion in a woman with severe mental retardation and cortical tremor. Chromosomal rearrangements in Mental Retardation and Autism, Troina, 2010.
Berti E, Fanoni D, Venegoni L, Girgenti V, Fiorani R, Novara F, Zuffardi O, Lucioni M, Paulli M. Valutazione delle aberrazioni cromosomiche nel linfoma blastico a cellule dentritiche plasmocito idi attraverso l’utilizzo di array-CGH. 85° Congresso Nazionale della Società Italiana di Dermatologia – SIDeMaST, Rimini, 2010.
Fanoni D, Novara F, Venegoni L, Zuffardi O, Crosti C, Berti E. Studio array-based comparative genomic hybridization dei linfomi primitivi cutanei epifermotropi aggressivi CD8+. 85° Congresso Nazionale della Società Italiana di Dermatologia – SIDeMaST, Rimini, 2010.
Lucioni M, Riboni R, Novara F, Fiandrino G, Kindl S, Zuffardi O, Paulli M. A case of CD5 negative, diffuse large B-cell lymphoma with unusual expression of cyclin D1. SIAPEC, Bologna, 2010.
Achille V, Novara F, Mantelli M, Avanzini MA, Rosti V, Maccario R, Bernardo ME, Locatelli F, Zecca M, Zuffardi O, Barosi G. In Vitro Expanded MSCs from Patients with Myeloprliferative Neoplasms at Late Passages Show Recurrent Cytogenetic Abnormalities. ASH, Chicago, 2010.
Novara F, Ciccone R, Zuffardi O. Epilepsy: a study of 220 patients to identify cryptic genomic imbalances. ECA, PORT0, 2011.
DiFrancesco J, Novara F, Saracchi E, Frigeni B, Remida P, Savoiardo M, Salmaggi A, Zuffardi O, Ferrarese C.Hereditary Systemic Angiopathy carrying novel TREX1 mutation. SIN, Genova, 2011.
Novara F, Sciacca F.L., Alfei E, Pantaleoni C, Achille V, Ciccone R, Zuffardi O. La duplicazione di NIPBL è responsabile della sindrome da microduplicazione 5p13. SIGU, Milano, 2011.
Novara F, Achille V, Rivieri F, Zuffardi O, Ciccone R. Una microduplicazione de novo in 10q24.31q24.32in un paziente con SHFM3. SIGU, Milano, 2011.
Novara F, Achille V, Sciacca G, Vetro A, Perrini S, Cerbo RM, Borghesi A, Orcesi S, Zuffardi O, Ciccone R. Delezione di MECP2 e IRAK1 in un bambino con encefalopatia severa. SIGU, Milano, 2011.
PUBBLICAZIONI:
1. Torniero C, dalla Bernardina B, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O. Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus. Eur J Hum Genet. 2007 Jan; 15(1):62-7.
2. Bernardo ME, Avanzini MA, Perotti C, Cometa AM, Moretta A, Lenta E, Del Fante C, Novara F, de Silvestri A, Zuffardi O, Maccario R, Locatelli F. Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell-therapy approaches: Further insights in the search for a fetal calf serum substitute. J Cell Physiol. 2007 Apr; 211(1):121-30.
3. Bernardo ME , Zaffaroni N, Novara F, Cometa AM, Avanzini MA, Moretta A, Montagna D, Maccario M, Villa F, Dandone MG, Zuffardi O, Locatelli F. Human bone marrow-derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms. Cancer Res. 2007 Oct 1; 67(19):9142-9.
4. De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previdere C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 cases. J Med Genet. 2007 Dec; 44(12):750-62.
5. Van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, Degregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB. Clinical and Molecular Characteristics of 1qter Syndrome: Delineating a Critical Region for corpus callosum agenesis/hypogenesis. J Med Genet. 2008 Jun;45(6):346-54.
6. Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet. 2008 Mar;40(3):322-8.
7. Torniero C, Dalla Bernardina B, Novara F, Cerini R, Bonaglia C, Pramparo T, Ciccone R, Guerrini R, Zuffardi O. Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. Eur J Hum Genet. 2008 Aug;16(8):880-7.
8. Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. Periventricular heterotopia, mental retardation and epilepsy associated with 5q14.3-q15 deletion. Neurology. 2009 Mar 3;72(9):784-92.
9. Novara F, Beri S, Bernardo ME, Bellazzi R, Malovini A, Ciccone R, Cometa AM, Locatelli F, Giorda R e Zuffardi O. Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukaemia of childhood. Hum Genet. 2009 Oct;126(4):511-20.
10. Piaggio G, Rosti V, Corselli M, Bertolotti F, Bergamaschi G, Pozzi S, Imperiale D, Chiavarina B, Bonetti E, Novara F, Sessarego M, Villani L, Garuti A, Massa M, Ghio R, Campanelli R, Bacigalupo A, Pecci A, Viarengo G, Zuffardi O, Frassoni F, and Barosi G. Endothelial colony forming cells (ECFCs) from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker. Blood. 2009 Oct 1;114(14):3127-30.
11. Novara F, Arcaini L, Merli M, Passamonti F, Zibellini S, Rizzi S, Rattotti S, Rumi E, Pascutto C, Vetro A, Astori C, Boveri E, Lucioni M, Paulli M, Zuffardi O, Lazzarino M. High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma. Hum Pathol. 2009 Nov;40(11):1628-37.
12. Bernardo ME, Avanzini MA, Ciccocioppo R, Perotti C, Cometa AM, Moretta A, Marconi M, Valli M, Novara F, Bonetti F, Zuffardi O, Maccario R, Corazza GR and Locatelli F. Phenotypical/functional characterization of in vitro expanded mesenchymal stromal cells from Crohn’s disease patients. Cytotherapy. 2009 Aug 13:1-12.
13. GiordaR, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton-Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, Zuffardi O. Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females . Am J Hum Genet. 2009 Sep;85(3):394-400. Erratum in: Am J Hum Genet. 2009 Sep;85(3):419.
14. Avanzini MA, Bernardo ME, Cometa AM, Perotti C, Zaffaroni N, Novara F, Visai L, Moretta A, Del Fante C, Villa R, Ball MB, Fibbe WE, Maccario R, Locatelli F. Generation of mesenchymal stromal cells in the presence of platelet lysate: a phenotypical and functional comparison of umbilical cord blood- and bone marrow-derived progenitors. Haematologica. 2009 Dec;94(12):1649-60.
15. Mei D, Marini C, Novara F, Dalla Bernardina B, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R. Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia. 2010 Apr;51(4):647-54.
16. van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Novara F, Pramparo T, Bernardina BD, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet. 2010 Feb;18(2):163-70.
17. Todoerti K, Lisignoli G, Storti P, Novara F, Agnelli L, Colla S, Manferdini C, Codeluppi K, Crugnola M, Abeltino M, Bolzoni M, Sgobba V, Facchini A, Lambertenghi-Deliliers G, Zuffardi O, Rizzoli V, Neri A, Giuliani N. Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease. Exp Hematol. 2010 Feb;38(2):141-53.
18. Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M. Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor. Am J Hum Genet. 2010 Apr 9;86(4):639-49.
19. Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, Dalla Bernardina B, Zuffardi O, Van Esch H. Refining the phenotype associated with MEF2C haploinsufficiency. Clin Genet. 2010 Nov;78(5):471-7.
20. Giuliani N, Lisignoli G, Novara F, Storti P, Zaffaroni N, Villa R, Sammarelli G, Agnelli L, Todoerti K, Bernardo ME, Manferdini C, Colla S, Abeltino M, Bolzoni M, Rocci A, Gabusi E, Palumbo A, Zuffardi O, Neri A, Rizzoli V. Bone Osteoblatic and mesenchymal stromal cells lack of primarily tumoral features in multiple myeloma patients. Leukemia. 2010 Jul;24(7):1368-70.
21. Bonaglia MC, Marelli S, Novara F, Commodaro S, Borgatti R, Minardo G, Memo L, Mangold E, Beri S, Zucca C, Brambilla D, Molteni M, Giorda R, Weber RG, Zuffardi O. Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. Eur J Hum Genet. 2010 Dec;18(12):1302-1309.
22. Lucioni M, Novara F, Riboni R, Fiandrino G, Nicola M, Kindl S, Boveri E, Jemos V, Arcaini L, Zuffardi O, Paulli M. CD5-negative diffuse large B-cell lymphoma with peculiar Cyclin D1+ phenotype. Pathologic and molecular characterization of a single case. Hum Pathol. 2011 Aug;42(8):1204-8.
23. Achille V, Mantelli M, Arrigo G, Novara F, Avanzini MA, Bernardo ME, Zuffardi O, Barosi G, Zecca M, Maccario R. Cell cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors. J Cell Biochem. 2011 Jul;112(7):1817-21.
24. Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, 22q13 clinical study group, and Orsetta Zuffardi Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet. 2011 Jul;7(7):e1002173. Epub 2011 Jul 14.
25. Costantino L, Rusconi D, Claut L, Colombo C, Novara F, Paracchini V, Porcaro L, Capasso P, Zuffardi O, Seia M. A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis. J Cyst Fibros. 2011 Dec;10(6):412-7.
26. Vezzoli P, Novara F, Fanoni D, Gambini D, Balice Y, Venegoni L, Paulli M, Crosti C, Berti E. Three cases of primary cutaneous lymphoblastic lymphoma: microarray-based comparative genomic hybridization and gene expression profiling studies with review of literature. Leuk Lymphoma. 2011 Aug 31.
27. Lucioni M, Novara F, Fiandrino G, Riboni R, Fanoni D, Arra M, Venegoni L, Nicola M, Dallera E, Arcaini L, Onida F, Vezzoli P, Travaglino E, Boveri E, Zuffardi O, Paulli M, Berti E. Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion. Blood. 2011 Oct 27;118(17):4591-4. Epub 2011 Sep 7.
28. De Filippi P, Zecca M, Novara F, Lisini D, Maserati E, Pasquali F, Rosti V, carlo-Stella C, Zavras N, Cagioni C, Pagliara D, Danesino C, Locatelli F. The strange case of the lost NRAS mutation in a child with Juvenile Myelomonocytic Leuekemia. Pediatric Blood and Cancer 2011, in press.
Paulis M, Novara F, Lodola M, Bensi M, De Carli L, Raimondi E. Identificazione di una nuova famiglia di dupliconi sul cromosoma 9 umano che ha dato origine ad un cromosoma marcatore soprannumerario con meccanismo somatico. X Congresso Nazionale SIGU, Chia (Ca), 2005.
Novara F, Paulis M, Lodola M, De Carli L, Raimondi E. A set of new duplicons isolated from human chromosome 9 plays a role in driving primate chromosome evolution. 7° Convegno FISV, Riva del Garda, 2005.
Lodola M, Paulis M, Novara F, De Carli L, Raimondi E. Identification of a set of new duplicons on human chromosome 9: their involvement in the origin of a supernumerary marker chromosome via somatic mechanisms. ICGEB, Trieste, 2005.
Paulis M, Novara F, Lodola M, De Carli L, Raimondi E. A set of new duplicons isolated from human chromosome 9 plays a role in driving primate chromosome evolution. ICGEB, Trieste, 2005.
De Gregori M, Pramparo T, Gimelli S, Messa J, Novara F, Ciccone R, Maraschio P, Calabrese G, Belli S, Bonaglia MC, Zatterale A, Ferrero GB, Riegel M, Schinzel A, Zuffardi O. Multiple deletions at the breakpoints of chromosome rearrangements. 2nd International Meeting on Cryptic Chromosomal rearrangements in Mental Retardation and Autism, Troina, 2006.
Ciccone R, De Gregori M, Gimelli S, Messa J, Novara F, Zuffardi O. Array-CGH e ritardo mentale idiopatico: risultati su 384 pazienti con cariotipo normale. IX Congresso Nazionale SIGU, Lido di Venezia, 2006.
Pramparo T, Guerrini R, Novara F, Zuffardi O. Array−CGH: la tecnica di elezione per studiare pazienti con malformazioni della corteccia cerebrale ed epilessia. XIV Convention Scientifica Telethon, Salsomaggiore Terme, 2007.
Bernardo ME, Villa R, Novara F, Cometa A, Avanzini MA, Moretta A, Maccario R, Daidone MG, Zaffaroni N, Zuffardi O, Locatelli F. Human bone marrow-derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not express telomerase activity. EBMT 2007 Congress, Lyon, 2007.
Novara F, Pramparo T, Guerrini R, Dalla Bernardina B, Zuffardi O. Results of array-CGH performed on 100 patients with normal karyotype, cerebral cortex malformations and/or epilepsy. 3th International Meeting on Cryptic Chromosomal rearrangements in Mental Retardation and Autism, Troina, 2007.
Novara F, Pramparo T, Guerrini R, Dalla Bernardina B, Zuffardi O. Chromosomal imbalances detected in patients with cerebral cortex malformations and epilepsy through array−CGH technique. ESGH Conference 2007, Nice, 2007.
De Gregori M, Ciccone R, Cifuentes F, Pramparo T, Magini P, Gimelli S, Vermeesch J, Messa J, Novara F, Maraschio P, Bonaglia M, Ferrero G, Silengo M, Zatterale A, Belli S, Ferlini A, Calabrese G, Mattina T, Bernardi F, Riege M, Rocchi M, Schinzel A, Zuffardi O. Multiple cryptic deletions are a common finding in “balanced” complex chromosome rearrangements: a study of seventeen cases. ESGH Conference 2007, Nice, 2007.
Novara F, Pramparo T, Dalla Bernardina B, Torniero C, Marini C, Ciccone R, Guerrini R, Zuffardi O. Sbilanciamenti cromosomici criptici, evidenziati tramite array-CGH, in 126 pazienti con difetti di migrazione neuronale e/o epilessia. X Congresso Nazionale SIGU, Montecatini Terme, 2007.
Novara F, Bernardo ME, Cometa A, Zuffardi O, Locatelli F. Risultati di uno studio di array-CGH in pazienti con leucemia linfoblastica acuta infantile. X Congresso Nazionale SIGU, Montecatini Terme, 2007.
De Gregori M, Ciccone R, Magini P, Gimelli S, Rossi E, Novara F, Vetro A, Messa J, Maraschio P, Schinzel A, Vermeesch J, Zuffardi O. delezioni criptiche sono comuni nelle traslocazioni reciproche complesse apparentemente bilanciate: studio sistemico di 59 casi. X Congresso Nazionale SIGU, Montecatini Terme, 2007.
Novara F, Arcaini L, Merli M, Passamonti F, Zibellini S, Montanari F, Rizzi S, Rumi E, Pascutto C, Paulli M, Zuffardi O, Lazzarino M. High resolution array-CGH in splenic marginal zone B-cell lymphoma: correlation of copy number imbalances with HCV status and prognostic categories. ASH, Atlanta, 2007.
Bernardo ME , Cometa AM, Villa R, Novara F, Moretta A, Avanzini MA, Maccario R, Dandone MG, Zaffarono N, Zuffardi O, Locatelli F. Human bone marrow-derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms. ASH, Atlanta, 2007.
Novara F, Beri S, Bernardo ME, Cometa AM, Locatelli F, Giorda R e Zuffardi O. Quali meccanismi molecolari potrebbero mediare la delezione del locus 9p21 nella leucemia linfoblastica acuta infantile? SIGU, Genova, 2008.
Giorda R, Bonaglia MC, Beri S, Novara F, Marelli S, Bonnet C, Jonveaux P, Dalla Bernardina B, Torniero C, Darra F, Bova S, Rusconi M, Spaccini L, Fiocchi I, Mastrangelo M, Zuffardi O. Duplicazioni segmentali complesse mediano dup(X)(p11.22-23) ricorrenti associate a ritardo mentale e lievi dismorfismi. SIGU, Genova, 2008.
Torniero C, Dalla Bernardina B, Novara F, Danesino C, Zuffardi O. Descrizione di un nuovo caso di delezione Xp22. 13, comprendente il gene CDKL5. SIGU, Genova, 2008.
Bernardo ME, Avanzini MA, Ciccocioppo R, Perotti C, Cometa AM, Moretta A, Valli M, Novara F, Maccario R, Corazza GR, Locatelli F. Phenotypical and Functional Characterization of in Vitro Expanded Bone Marrow-Derived Mesenchymal Stromal Cells from Patients with Crohn’s Disease. ASH, San Francisco, 2008.
Bernardo ME, Avanzini MA, Perotti C, Cometa AM, Zaffaroni N, Novara F, Moretta A, del Fante C, Maccario R, Fibbe WE, Locatelli F. Phenotypical and Functional Characterization of Umbilical Cord Blood-Derived Mesenchymal Stromal Cells Expanded in the Presence of Platelet Lysate and Comparison with Their Bone Marrow-Derived Counterpart. ASH, San Francisco, 2008.
Marini C, Novara F, Dalla Bernardina B, Gana S, Torniero C, Parrini E, Mei D, Ferrari A, Darra F, Pramparo T, Zuffardi O, Guerrini R. Epilepsy, mental retardation and developmental abnormalities: cryptic genomic imbalances detected by whole genome array-CGH. IEC, Budapest, 2009.
Novara F, Marini C, Torniero C, Gana S, Parrini E, Mei D, Ferrari A, Dalla Bernardina B, Guerrini R, Zuffardi O, Pramparo T. Array−CGH: election technique to study cerebral cortex malformations and epilepsy. Telethon Covention, Riva del Garda (TN), 2009.
Novara F, Bonaglia MC, Marini C, Giglio S, Zuffardi O, Guerrini R. New regions for periventricular heterotopia: 4p15.3-p14, 6p25 and 6q27. 5th International Meeting on Cryptic Chromosomal rearrangements in Mental Retardation and Autism, Troina, 2009.
Novara F, Gana S, Barba C, Guerrini R, Zuffardi O. Epilessia farmaco-resistente in un paziente con rec(4) dup(4) da inversione pericentrica di origine materna. SIGU, Torino, 2009.
Novara F, Fontana E, Torniero C, Dalla Bernardina B, Van Esch H, Zuffardi O. MEF2C: un nuovo gene-epilessia per una nuova sindrome da microdelezione. SIGU, Torino, 2009.
Giuliani N, Novara F, Todoerti K, Zaffaroni N, Villa R, Storti P, Bernardo ME, Manferdini C, Gabusi E, Abeltino M, Bolzoni M, Agnelli L, Rocci A, Colla S, Sammarelli G, Rizzoli V, Zuffardi O, Neri A, Lisignoli G. Are The myeloma bone microevironment cells tumoral or not? ASH, New Orleans, 2009.
Bianchessi D, Eoli M, Salsano E, Natacci F, Saletti V, Guzzetti S, Novara F, Riva D, Lalatta F, Finocchiaro G. Un programma integrato di diagnosi molecolare nella neurofibromatosi di tipo I. XIV Congresso Nazionale dell’Associazione Italiana di Neuro-Oncologia (AINO). Padova, 2009.
Giglio S, Romano S, Novara F, Sani I, Bonaglia MC, Falchi M, Guarducci S, Pantaleo M, Guerrini R, Zuffardi O. A de novo 22q13 mosaic deletion in a woman with severe mental retardation and cortical tremor. Chromosomal rearrangements in Mental Retardation and Autism, Troina, 2010.
Berti E, Fanoni D, Venegoni L, Girgenti V, Fiorani R, Novara F, Zuffardi O, Lucioni M, Paulli M. Valutazione delle aberrazioni cromosomiche nel linfoma blastico a cellule dentritiche plasmocito idi attraverso l’utilizzo di array-CGH. 85° Congresso Nazionale della Società Italiana di Dermatologia – SIDeMaST, Rimini, 2010.
Fanoni D, Novara F, Venegoni L, Zuffardi O, Crosti C, Berti E. Studio array-based comparative genomic hybridization dei linfomi primitivi cutanei epifermotropi aggressivi CD8+. 85° Congresso Nazionale della Società Italiana di Dermatologia – SIDeMaST, Rimini, 2010.
Lucioni M, Riboni R, Novara F, Fiandrino G, Kindl S, Zuffardi O, Paulli M. A case of CD5 negative, diffuse large B-cell lymphoma with unusual expression of cyclin D1. SIAPEC, Bologna, 2010.
Achille V, Novara F, Mantelli M, Avanzini MA, Rosti V, Maccario R, Bernardo ME, Locatelli F, Zecca M, Zuffardi O, Barosi G. In Vitro Expanded MSCs from Patients with Myeloprliferative Neoplasms at Late Passages Show Recurrent Cytogenetic Abnormalities. ASH, Chicago, 2010.
Novara F, Ciccone R, Zuffardi O. Epilepsy: a study of 220 patients to identify cryptic genomic imbalances. ECA, PORT0, 2011.
DiFrancesco J, Novara F, Saracchi E, Frigeni B, Remida P, Savoiardo M, Salmaggi A, Zuffardi O, Ferrarese C.Hereditary Systemic Angiopathy carrying novel TREX1 mutation. SIN, Genova, 2011.
Novara F, Sciacca F.L., Alfei E, Pantaleoni C, Achille V, Ciccone R, Zuffardi O. La duplicazione di NIPBL è responsabile della sindrome da microduplicazione 5p13. SIGU, Milano, 2011.
Novara F, Achille V, Rivieri F, Zuffardi O, Ciccone R. Una microduplicazione de novo in 10q24.31q24.32in un paziente con SHFM3. SIGU, Milano, 2011.
Novara F, Achille V, Sciacca G, Vetro A, Perrini S, Cerbo RM, Borghesi A, Orcesi S, Zuffardi O, Ciccone R. Delezione di MECP2 e IRAK1 in un bambino con encefalopatia severa. SIGU, Milano, 2011.
PUBBLICAZIONI:
1. Torniero C, dalla Bernardina B, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O. Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus. Eur J Hum Genet. 2007 Jan; 15(1):62-7.
2. Bernardo ME, Avanzini MA, Perotti C, Cometa AM, Moretta A, Lenta E, Del Fante C, Novara F, de Silvestri A, Zuffardi O, Maccario R, Locatelli F. Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell-therapy approaches: Further insights in the search for a fetal calf serum substitute. J Cell Physiol. 2007 Apr; 211(1):121-30.
3. Bernardo ME , Zaffaroni N, Novara F, Cometa AM, Avanzini MA, Moretta A, Montagna D, Maccario M, Villa F, Dandone MG, Zuffardi O, Locatelli F. Human bone marrow-derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms. Cancer Res. 2007 Oct 1; 67(19):9142-9.
4. De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previdere C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 cases. J Med Genet. 2007 Dec; 44(12):750-62.
5. Van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, Degregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB. Clinical and Molecular Characteristics of 1qter Syndrome: Delineating a Critical Region for corpus callosum agenesis/hypogenesis. J Med Genet. 2008 Jun;45(6):346-54.
6. Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet. 2008 Mar;40(3):322-8.
7. Torniero C, Dalla Bernardina B, Novara F, Cerini R, Bonaglia C, Pramparo T, Ciccone R, Guerrini R, Zuffardi O. Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. Eur J Hum Genet. 2008 Aug;16(8):880-7.
8. Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. Periventricular heterotopia, mental retardation and epilepsy associated with 5q14.3-q15 deletion. Neurology. 2009 Mar 3;72(9):784-92.
9. Novara F, Beri S, Bernardo ME, Bellazzi R, Malovini A, Ciccone R, Cometa AM, Locatelli F, Giorda R e Zuffardi O. Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukaemia of childhood. Hum Genet. 2009 Oct;126(4):511-20.
10. Piaggio G, Rosti V, Corselli M, Bertolotti F, Bergamaschi G, Pozzi S, Imperiale D, Chiavarina B, Bonetti E, Novara F, Sessarego M, Villani L, Garuti A, Massa M, Ghio R, Campanelli R, Bacigalupo A, Pecci A, Viarengo G, Zuffardi O, Frassoni F, and Barosi G. Endothelial colony forming cells (ECFCs) from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker. Blood. 2009 Oct 1;114(14):3127-30.
11. Novara F, Arcaini L, Merli M, Passamonti F, Zibellini S, Rizzi S, Rattotti S, Rumi E, Pascutto C, Vetro A, Astori C, Boveri E, Lucioni M, Paulli M, Zuffardi O, Lazzarino M. High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma. Hum Pathol. 2009 Nov;40(11):1628-37.
12. Bernardo ME, Avanzini MA, Ciccocioppo R, Perotti C, Cometa AM, Moretta A, Marconi M, Valli M, Novara F, Bonetti F, Zuffardi O, Maccario R, Corazza GR and Locatelli F. Phenotypical/functional characterization of in vitro expanded mesenchymal stromal cells from Crohn’s disease patients. Cytotherapy. 2009 Aug 13:1-12.
13. GiordaR, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton-Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, Zuffardi O. Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females . Am J Hum Genet. 2009 Sep;85(3):394-400. Erratum in: Am J Hum Genet. 2009 Sep;85(3):419.
14. Avanzini MA, Bernardo ME, Cometa AM, Perotti C, Zaffaroni N, Novara F, Visai L, Moretta A, Del Fante C, Villa R, Ball MB, Fibbe WE, Maccario R, Locatelli F. Generation of mesenchymal stromal cells in the presence of platelet lysate: a phenotypical and functional comparison of umbilical cord blood- and bone marrow-derived progenitors. Haematologica. 2009 Dec;94(12):1649-60.
15. Mei D, Marini C, Novara F, Dalla Bernardina B, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R. Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia. 2010 Apr;51(4):647-54.
16. van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Novara F, Pramparo T, Bernardina BD, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet. 2010 Feb;18(2):163-70.
17. Todoerti K, Lisignoli G, Storti P, Novara F, Agnelli L, Colla S, Manferdini C, Codeluppi K, Crugnola M, Abeltino M, Bolzoni M, Sgobba V, Facchini A, Lambertenghi-Deliliers G, Zuffardi O, Rizzoli V, Neri A, Giuliani N. Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease. Exp Hematol. 2010 Feb;38(2):141-53.
18. Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M. Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor. Am J Hum Genet. 2010 Apr 9;86(4):639-49.
19. Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, Dalla Bernardina B, Zuffardi O, Van Esch H. Refining the phenotype associated with MEF2C haploinsufficiency. Clin Genet. 2010 Nov;78(5):471-7.
20. Giuliani N, Lisignoli G, Novara F, Storti P, Zaffaroni N, Villa R, Sammarelli G, Agnelli L, Todoerti K, Bernardo ME, Manferdini C, Colla S, Abeltino M, Bolzoni M, Rocci A, Gabusi E, Palumbo A, Zuffardi O, Neri A, Rizzoli V. Bone Osteoblatic and mesenchymal stromal cells lack of primarily tumoral features in multiple myeloma patients. Leukemia. 2010 Jul;24(7):1368-70.
21. Bonaglia MC, Marelli S, Novara F, Commodaro S, Borgatti R, Minardo G, Memo L, Mangold E, Beri S, Zucca C, Brambilla D, Molteni M, Giorda R, Weber RG, Zuffardi O. Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. Eur J Hum Genet. 2010 Dec;18(12):1302-1309.
22. Lucioni M, Novara F, Riboni R, Fiandrino G, Nicola M, Kindl S, Boveri E, Jemos V, Arcaini L, Zuffardi O, Paulli M. CD5-negative diffuse large B-cell lymphoma with peculiar Cyclin D1+ phenotype. Pathologic and molecular characterization of a single case. Hum Pathol. 2011 Aug;42(8):1204-8.
23. Achille V, Mantelli M, Arrigo G, Novara F, Avanzini MA, Bernardo ME, Zuffardi O, Barosi G, Zecca M, Maccario R. Cell cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors. J Cell Biochem. 2011 Jul;112(7):1817-21.
24. Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, 22q13 clinical study group, and Orsetta Zuffardi Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet. 2011 Jul;7(7):e1002173. Epub 2011 Jul 14.
25. Costantino L, Rusconi D, Claut L, Colombo C, Novara F, Paracchini V, Porcaro L, Capasso P, Zuffardi O, Seia M. A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis. J Cyst Fibros. 2011 Dec;10(6):412-7.
26. Vezzoli P, Novara F, Fanoni D, Gambini D, Balice Y, Venegoni L, Paulli M, Crosti C, Berti E. Three cases of primary cutaneous lymphoblastic lymphoma: microarray-based comparative genomic hybridization and gene expression profiling studies with review of literature. Leuk Lymphoma. 2011 Aug 31.
27. Lucioni M, Novara F, Fiandrino G, Riboni R, Fanoni D, Arra M, Venegoni L, Nicola M, Dallera E, Arcaini L, Onida F, Vezzoli P, Travaglino E, Boveri E, Zuffardi O, Paulli M, Berti E. Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion. Blood. 2011 Oct 27;118(17):4591-4. Epub 2011 Sep 7.
28. De Filippi P, Zecca M, Novara F, Lisini D, Maserati E, Pasquali F, Rosti V, carlo-Stella C, Zavras N, Cagioni C, Pagliara D, Danesino C, Locatelli F. The strange case of the lost NRAS mutation in a child with Juvenile Myelomonocytic Leuekemia. Pediatric Blood and Cancer 2011, in press.
