Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders von Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D'Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M., Tabano, S.

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Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 von Novelli, A., Grati, F. R., 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, A. M., Pecile, V., Simoni, G., Zuffardi, O., Giardino, D.

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Fetal RHD detection from circulating cell‐free fetal DNA in maternal plasma: validation of a diagnostic kit using automatic extraction and frozen DNA von Londero, D., Stampalija, T., Bolzicco, D., Castro Silva, E., Candolini, M., Cortivo, C., Dreossi, C., Fantasia, I., Pecile, V., De Angelis, V.

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The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype von Rocca, M. S., Pecile, V., Cleva, L., Speltra, E., Selice, R., Di Mambro, A., Foresta, C., Ferlin, A.

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A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning von Villa, N, Conconi, D, Benussi, D Gambel, Tornese, G, Crosti, F, Sala, E, Dalprà, L, Pecile, V

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A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus von Zollino, Marcella, Orteschi, Daniela, Marangi, Giuseppe, De Crescenzo, Agostina, Pecile, Vanna, Riccio, Andrea, Neri, Giovanni

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Phylloid Pattern of Hypomelanosis Closely Related to Chromosomal Abnormalities in the 13q Detected by SNP Array Analysis von Faletra, F., Berti, I., Tommasini, A., Pecile, V., Cleva, L., Alberini, E., Bruno, I., Gasparini, P.

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Amplitude noise suppression in Yb:doped NALM oscillators utilizing saturable absorber settings von Pecile, Vito F., Mayer, Aline S., Ballentin, Jonas K. C., Heckl, Oliver H.

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De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature von Perrone, M.D, Rocca, M.S, Bruno, I, Faletra, F, Pecile, V, Gasparini, P

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Premature Birth with Complicated Perinatal Course Delaying Diagnosis of Prader-Willi Syndrome von Ciana, G., Fertz, M. C., Pecile, V., Demarini, S.

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Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome von Disciglio, Vittoria, Rizzo, Caterina Lo, Mencarelli, Maria Antonietta, Mucciolo, Mafalda, Marozza, Annabella, Di Marco, Chiara, Massarelli, Antonio, Canocchi, Valentina, Baldassarri, Margherita, Ndoni, Enea, Frullanti, Elisa, Amabile, Sonia, Anderlid, Britt Marie, Metcalfe, Kay, Le Caignec, Cédric, David, Albert, Fryer, Alan, Boute, Odile, Joris, Andrieux, Greco, Donatella, Pecile, Vanna, Battini, Roberta, Novelli, Antonio, Fichera, Marco, Romano, Corrado, Mari, Francesca, Renieri, Alessandra

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13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients von Ballarati, Lucia, Rossi, Elena, Bonati, Maria Teresa, Gimelli, Stefania, Maraschio, Paola, Finelli, Palma, Giglio, Sabrina, Lapi, Elisabetta, Bedeschi, Maria Francesca, Guerneri, Silvana, Arrigo, Giulia, Patricelli, Maria Grazia, Mattina, Teresa, Guzzardi, Oriana, Pecile, Vanna, Police, Adalgisa, Scarano, Gioacchino, Larizza, Lidia, Zuffardi, Orsetta, Giardino, Daniela

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A novel OTOA mutation in an Italian family with hearing loss von Fontana, P., Morgutti, M., Pecile, V., Lenarduzzi, S., Cappellani, S., Falco, M., Scarano, F., Lonardo, F.

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Genomic organization and chromosome mapping of the human homeobox gene HHEX von Morgutti, M., Demori, E., Pecile, V., Amoroso, A., Rustighi, A., Manfioletti, G.

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Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature von Campagnoli, MF, Garelli, E, Quarello, P, Carando, A, Varotto, S, Nobili, B, Longoni, D, Pecile, V, Zecca, M, Dufour, C, Ramenghi, U, Dianzan, I

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Screening for fetal anomalies by ultrasound at 14 and 21 weeks von D'Ottauio, G., Meir, Y. J., Rustico, M. A., Pecile, V., Fischer‐Tamaro, L., Conoscenti, G., Natale, R., Mandruzzato, G. P.

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Fragile X syndrome, mental retardation and macroorchidism von Vatta, S, Cigui, I, Demori, E, Morgutti, M, Pecile, V, Benussi, D G, Serra, C, Amoroso, A

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Reply von Novelli, A., Grati, F. R., 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, A. M., Pecile, V., Simoni, G., Zuffardi, O., Giardino, D.

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Reply von Novelli, A, Grati, F R, Ballarati, L, Bernardini, L, Bizzoco, D, Camurri, L, Casalone, R, Cardarelli, L, Cavalli, P, Ciccone, R, Clementi, M, Dalpra, L, Gentile, M, Gelli, G, Grammatico, P, Malacarne, M, Nardone, A M, Pecile, V, Simoni, G, Zuffardi, O, Giardino, D

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Reply von Novelli, A., Grati, F. R., 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, A. M., Pecile, V., Simoni, G., Zuffardi, O., Giardino, D.

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