Publications

Professionals working in the laboratory are involved in studying and improving knowledge of  the causes of genetic diseases and in developing increasingly more accurate and effective diagnostic tests in the field of prenatal and postnatal investigations.

Microgenomics laboratory keeps high quality levels to ensure quick and secure investigations in order to pay special attention to customer satisfaction.

In this section you can find a selection of publications to which researchers working in Microgenomics laboratory have contribute, or you can look through the PubMed archive.


2015


Mantelli M, Avanzini MA, Rosti V, Ingo DM, Conforti A, Novara F, Arrigo G, Boni M, Zappatore R, Lenta E, Moretta A, Acquafredda G, de Silvestri A, Cirillo V, Cicchetti E, Algeri M, Strocchio L, Vinti , Starc N, Biagini S, Sirleto P, Bernasconi P, Zuffardi O, Maserati E, Maccario R, Zecca M,Locatelli F, Bernardo ME. Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia. Br J Haematol. 2015 Sep 6.

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De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Béna F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S,Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tümer Z,Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B. Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. Genet Med. 2015 Jun 17.

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2014


Tassano E, Biancheri R, Denegri L, Porta S, Novara FZuffardi O, Gimelli G, Cuoco C. Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature,  Eur J Med Genet. 2014 Nov-Dec;57(11-12)

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Capra V, Biancheri R, Morana G, Striano P, Novara F, Ferrero GB, Boeri L, Celle ME, Mancardi MM, Zuffardi O, Parrini E, Guerrini R. Periventricular nodular heterotopia in Smith-Magenis syndrome. Am J Med Genet A. 2014 Dec 16

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Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R. Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. Am J Med Genet A. 2014 May 12.

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Novara F, Simonati A, Sicca F, Battini R, Fiori S, Contaldo A, Criscuolo L, Zuffardi OCiccone R. MECP2 duplication phenotype in symptomatic females: report of three further cases. Mol Cytogenet. 2014 Jan 28.

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Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara FZuffardi OCiccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet. 2014 Jan 14.

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2013


Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara FZuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain. 2013 Nov;136(Pt 11):3378-94.

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Borghesi A, Avanzini MA, Novara F, Mantelli M, Lenta E, Achille V, Cerbo RM, Tzialla C, Longo S, De Silvestri A, Zimmermann LJ, Manzoni P, Zecca M, Spinillo A, Maccario R, Zuffardi O, Stronati M. Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach. Cytotherapy. 2013 Nov;15(11):1362-73.

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Mastrangelo M, Peron A, Spaccini L, Novara F, Scelsa B, Introvini P, Raviglione F, Faiola S, Zuffardi ONeonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy. Epileptic Disord. 2013 Mar;15(1):55-61. doi: 10.1684/epd.2013.0558.

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Novara F, Rizzo A, Bedini G, Girgenti V, Esposito S, Pantaleoni C, Ciccone R, Sciacca FL, Achille V, Della Mina E, Gana S, Zuffardi O, Estienne M. MEF2C deletions and mutations versus duplications: A clinical comparison. Eur J Med Genet. 2013 Feb 10. pii: S1769-7212(13)00031-1. doi: 10.1016/j.ejmg.2013.01.011.

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Novara F, Alfei E, D’Arrigo S, Pantaleoni C, Beri S, Achille V, Sciacca FL, Giorda R, Zuffardi OCiccone R5p13 microduplication syndrome: A new case and better clinical definition of the syndrome. Eur J Med Genet. 2013 Jan;56(1):54-8. doi: 10.1016/j.ejmg.2012.10.002. Epub 2012 Oct 18.

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2012


Valvo G, Novara F, Brovedani P, Ferrari AR, Guerrini R, Zuffardi O, Sicca F. 22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. Epilepsy Behav. 2012 Dec;25(4):567-72. doi: 10.1016/j.yebeh.2012.09.035. Epub 2012 Nov 13.

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Cellini E, Disciglio V, Novara F, Barkovich JA, Mencarelli MA, Hayek J, Renieri A, Zuffardi O, Guerrini R. Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion. Am J Med Genet A. 2012 Jul;158A(7):1793-7. doi: 10.1002/ajmg.a.35416. Epub 2012 Jun 7.

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Vetro A, Bouman K, Hastings R, McMullan DJ, Vermeesch JR, Miller K, Sikkema-Raddatz B, Ledbetter DH, Zuffardi O, van Ravenswaaij-Arts CM. The introduction of arrays in prenatal diagnosis: a special challenge. Hum Mutat. 2012 Jun;33(6):923-9. doi: 10.1002/humu.22050. Epub 2012 Apr 16.

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Gana S, Veggiotti P, Sciacca G, Fedeli C, Bersano A, Micieli G, Maghnie M, Ciccone R, Rossi E, Plunkett K, Bi W, Sutton VR, Zuffardi O19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. Eur J Hum Genet. 2012 Aug;20(8):852-6. doi: 10.1038/ejhg.2012.19. Epub 2012 Feb 29.

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Novelli A, Grati FR, Ballarati L, Bernardini L, Bizzoco D, Camurri L, Casalone R, Cardarelli L, Cavalli P, Ciccone R, Clementi M, Dalprà L, Gentile M, Gelli G, Grammatico P, Malacarne M, Nardone AM, Pecile V, Simoni G, Zuffardi O, Giardino D. Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. Ultrasound Obstet Gynecol. 2012 Apr;39(4):384-8. doi: 10.1002/uog.11092. Review.

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2011


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.

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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, Zuffardi OMolecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet. 2011 Jul;7(7):e1002173.

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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.

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Bui TH, Vetro A, Zuffardi O, Shaffer LG. Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? Prenat Diagn. 2011 Mar;31(3):235-43.

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Lucioni M, Novara F, Riboni R, Fiandrino G, Nicola M, Kindl S, Boveri E, Jemos V, Arcaini L, Zuffardi O, Paulli M. CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case. Hum Pathol. 2011 Feb 18.

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Van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr;19(4):400-8.

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Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Mina ED, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C, D’Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet. 2011 Jan;19(1):102-7.

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2010


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 OGenotype- phenotype relationship in three cases with overlapping 19p13.12 microdeletions. Eur J Hum Genet. 2010 Dec;18(12):1302-9.

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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 osteoblastic and mesenchymal stromal cells lack primarily tumoral features in multiple myeloma patients. Leukemia. 2010 Jul;24(7):1368-70.

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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.

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