Altered proliferation and networks in neural cells derived from idiopathic autistic individuals
Marchetto, Maria C, Belinson, Haim, Tian, Yuan, Freitas, Beatriz C, Fu, Chen, Vadodaria, Krishna, Beltrao-Braga, Patricia, Trujillo, Cleber A, Mendes, Ana P D, Padmanabhan, Krishnan, Nunez, Yanelli, Ou, Jing, Ghosh, Himanish, Wright, Rebecca, Brennand, Kristen, Pierce, Karen, Eichenfield, Lawrence, Pramparo, Tiziano, Eyler, Lisa, Barnes, Cynthia C, Courchesne, Eric, Geschwind, Daniel H, Gage, Fred H, Wynshaw-Boris, Anthony, Muotri, Alysson R
Published in Molecular psychiatry (01.06.2017)
Published in Molecular psychiatry (01.06.2017)
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Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
De Gregori, M, Ciccone, R, Magini, P, Pramparo, T, Gimelli, S, Messa, J, Novara, F, Vetro, A, Rossi, E, Maraschio, P, Bonaglia, M C, Anichini, C, Ferrero, G B, Silengo, M, Fazzi, E, Zatterale, A, Fischetto, R, Previderé, 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, J R, Zuffardi, O
Published in Journal of medical genetics (01.12.2007)
Published in Journal of medical genetics (01.12.2007)
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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
Bonaglia, M C, Giorda, R, Mani, E, Aceti, G, Anderlid, B-M, Baroncini, A, Pramparo, T, Zuffardi, O
Published in Journal of medical genetics (01.10.2006)
Published in Journal of medical genetics (01.10.2006)
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Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome
Rizzolio, F, Pramparo, T, Sala, C, Zuffardi, O, De Santis, L, Rabellotti, E, Calzi, F, Fusi, F, Bellazzi, R, Toniolo, D
Published in Journal of medical genetics (01.09.2009)
Published in Journal of medical genetics (01.09.2009)
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Immunophenotypic, cytogenetic and functional characterization of circulating endothelial cells in myelodysplastic syndromes
PORTA, M. G. Della, MALCOVATI, L, PRAMPARO, T, MAZZINI, G, INVERNIZZI, R, LAZZARINO, M, CAZZOLA, M, RIGOLIN, G. M, ROSTI, V, BONETTI, E, TRAVAGLINO, E, BOVERI, E, GALLI, A, BOGGI, S, CICCONE, M
Published in Leukemia (01.03.2008)
Published in Leukemia (01.03.2008)
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Periventricular heterotopia in fragile X syndrome
Moro, F, Pisano, T, Bernardina, B Dalla, Polli, R, Murgia, A, Zoccante, L, Darra, F, Battaglia, A, Pramparo, T, Zuffardi, O, Guerrini, R
Published in Neurology (22.08.2006)
Published in Neurology (22.08.2006)
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Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH
Caselli, R, Speciale, C, Pescucci, C, Uliana, V, Sampieri, K, Bruttini, M, Longo, I, De Francesco, S, Pramparo, T, Zuffardi, O, Frezzotti, R, Acquaviva, A, Hadjistilianou, T, Renieri, A, Mari, F
Published in Journal of human genetics (01.06.2007)
Published in Journal of human genetics (01.06.2007)
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Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia
Giorda, R, Cerritello, A, Bonaglia, M C, Bova, S, Lanzi, G, Repetti, E, Giglio, S, Baschirotto, C, Pramparo, T, Avolio, L, Bragheri, R, Maraschio, P, Zuffardi, O
Published in Journal of medical genetics (01.06.2004)
Published in Journal of medical genetics (01.06.2004)
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Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?
Bonaglia, M C, Giorda, R, Cavallini, A, Pramparo, T, Rocchi, M, Borgatti, R, Zuffardi, O
Published in Journal of medical genetics (01.08.2003)
Published in Journal of medical genetics (01.08.2003)
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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman, Holly A F, Xiong, Bo, Coe, Bradley P, Wang, Tianyun, Hoekzema, Kendra, Fenckova, Michaela, Kvarnung, Malin, Gerdts, Jennifer, Trinh, Sandy, Cosemans, Nele, Vives, Laura, Lin, Janice, Turner, Tychele N, Santen, Gijs, Ruivenkamp, Claudia, Kriek, Marjolein, van Haeringen, Arie, Aten, Emmelien, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Haan, Eric, Shaw, Marie, Gecz, Jozef, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Schwartz, Charles, Kooy, R Frank, Vandeweyer, Geert, Helsmoortel, Celine, Romano, Corrado, Alberti, Antonino, Vinci, Mirella, Avola, Emanuela, Giusto, Stefania, Courchesne, Eric, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Amaral, David G, Scheffer, Ingrid E, Delatycki, Martin B, Lockhart, Paul J, Hormozdiari, Fereydoun, Harich, Benjamin, Castells-Nobau, Anna, Xia, Kun, Peeters, Hilde, Nordenskjöld, Magnus, Schenck, Annette, Bernier, Raphael A, Eichler, Evan E
Published in Nature genetics (01.04.2017)
Published in Nature genetics (01.04.2017)
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Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
Lindsay, Elizabeth A, Vitelli, Francesca, Su, Hong, Morishima, Masae, Huynh, Tuong, Pramparo, Tiziano, Jurecic, Vesna, Ogunrinu, George, Sutherland, Helen F, Scambler, Peter J, Bradley, Allan, Baldini, Antonio
Published in Nature (London) (01.03.2001)
Published in Nature (London) (01.03.2001)
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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker, Madeleine R, Heymann, Gabriel, Wang, Tianyun, Coe, Bradley P, Turner, Tychele N, Stessman, Holly A F, Hoekzema, Kendra, Kvarnung, Malin, Shaw, Marie, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Thompson, Elizabeth M, Haan, Eric, Guo, Hui, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Vandeweyer, Geert, Alberti, Antonino, Avola, Emanuela, Vinci, Mirella, Giusto, Stefania, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Michaelson, Jacob J, Sedlacek, Zdenek, Santen, Gijs W E, Peeters, Hilde, Hakonarson, Hakon, Courchesne, Eric, Romano, Corrado, Kooy, R Frank, Bernier, Raphael A, Nordenskjöld, Magnus, Gecz, Jozef, Xia, Kun, Zweifel, Larry S, Eichler, Evan E
Published in Nature neuroscience (01.08.2017)
Published in Nature neuroscience (01.08.2017)
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TBX1 is required for inner ear morphogenesis
Vitelli, Francesca, Viola, Antonella, Morishima, Masae, Pramparo, Tiziano, Baldini, Antonio, Lindsay, Elizabeth
Published in Human molecular genetics (15.08.2003)
Published in Human molecular genetics (15.08.2003)
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Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome : a hypothesis
RIZZOLIO, Flavio, SALA, Cinzia, ALBORESI, Simone, BIONE, Silvia, GILLI, Serena, GOEGAN, Mara, PRAMPARO, Tiziano, ZUFFARDI, Orsetta, TONIOLO, Daniela
Published in Human genetics (01.05.2007)
Published in Human genetics (01.05.2007)
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Reciprocal translocations : a trap for cytogenetists?
CICCONE, Roberto, GIORDA, Roberto, ROCCHI, Mariano, PRAMPARO, Tiziano, ZUFFARDI, Orsetta, ROSSI, Elena, GREGATO, Giuliana, GUERRINI, Renzo, GIGLIO, Sabrina, CARROZZO, Romeo, BONAGLIA, Maria Clara, PRIOLO, Emanuela, LAGANA, Carmelo, TENCONI, Romano
Published in Human genetics (01.10.2005)
Published in Human genetics (01.10.2005)
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A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28
ROSSETTI, Francesca, RIZZOLIO, Flavio, PRAMPARO, Tiziano, SALA, Cinzia, BIONE, Silvia, BERNARDI, Franca, GOEGAN, Mara, ZUFFARDI, Orsetta, TONIOLO, Daniela
Published in European journal of human genetics : EJHG (01.10.2004)
Published in European journal of human genetics : EJHG (01.10.2004)
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