L'apporto della genetica alla definizione dei fenotipi clinici: patologie mono e poligeniche

2011

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; 19(1):102-7

Vingolo EM, Di Fabio R, Salvatore S, Grieco G, Bertini E, Leuzzi V, Nesti C, Filla A, Tessa A, Pierelli F, Santorelli M, Casali C. Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay. Eur J Neurol 2011

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

Parodi F, Passoni L, Massimo L, Luksch R, Gambini C, Rossi E, Zuffardi O, Pistoia V, Pezzolo A. Identification of Novel Prognostic Markers in Relapsing Localized Resectable Neuroblastoma. OMICS 2011

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; 31(3):235-43

Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A. GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings. Biochim Biophys Acta 2011; 1812(7):782-9

Vetro A, Ciccone R, Giorda R, Patricelli MG, Della Mina E, Forlino A, Zuffardi O. XX males SRY negative: a confirmed cause of infertility. J Med Genet 2011; 48(10):710-2

Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O. Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome. PLoS Genet 2011; 7(7):e1002173

Giorda R, Beri S, Bonaglia MC, Spaccini L, Scelsa B, Manolakos E, Mina ED, Ciccone R, Zuffardi O. Common structural features characterize interstitial intrachromosomal Xp and 18q triplications. Am J Med Genet A 2011; 155(11):2681-7

Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy.The Am J Hum Genet 2011; 89(5):652-5

2010

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; 18(2):163-70

  Gimelli S, Chrast J, Baban A, Henrichsen CN, Lerone M, Zuffardi O, Gimelli G, Reymond A. A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes. Am J Med Genet A 2010; 152A(5):1285-94

Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, Bernardina BD, Zuffardi O, Van Esch H. Refining the phenotype associated with MEF2C haploinsufficiency. Clin Genet 2010; 78(5):471-7

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; 18(12):1302-9

2009

Zuffardi O, Bonaglia M, Ciccone R, Giorda R. Inverted duplications deletions: underdiagnosed rearrangements?? Clin Genet 2009; 75(6):505-13 

Clayton-Smith J, Walters S, Hobson E, Burkitt-Wright E, Smith R, Toutain A, Amiel J, Lyonnet S, Mansour S, Fitzpatrick D, Ciccone R, Ricca I, Zuffardi O, Donnai D. Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. Eur J Hum Genet 2009; 17(4):434-43 

Thauvin-Robinet C, Callier P, Franco B, Zuffardi O, Payet M, Aral B, Gigot N, Donzel A, Mosca-Boidron AL, Masurel-Paulet A, Huet F, Teyssier JR, Mugneret F, Faivre L. Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene. Am J Med Genet A 2009; 149A(8):1846-9 

Bonaglia MC, Giorda R, Beri S, Bigoni S, Sensi A, Baroncini A, Capucci A, De Agostini C, Gwilliam R, Deloukas P, Dunham I, Zuffardi O. Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion. Eur J Hum Genet 2009; 17(4): 426-33 

Carboni I, Andreucci E, Caruso MR, Ciccone R, Zuffardi O, Genuardi M, Pela I, Giglio S. Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. Nephrol Dial Transplant 2009; 24(9):2734-8  

Giorda R, 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; 85(3):394-400