A New Case of Trisomy for the Short Arm of No. 9 Chromosome

Por Baccichetti, Carlo, Tenconi, Romano
Publicado em 1973

Deletion of PTEN and BMPR1A on Chromosome 10q23 Is Not Always Associated with Juvenile Polyposis of Infancy

Por Salviati, Leonardo, Patricelli, Mariagrazia, Guariso, Graziella, Sturniolo, Giacomo Carlo, Alaggio, Rita, Bernardi, Franca, Zuffardi, Orsetta, Tenconi, Romano
Publicado em 2006

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf‐Hirschhorn syndrome

Por Concolino, Daniela, Rossi, Elena, Strisciuglio, Pietro, Iembo, Maria Antonietta, Giorda, Roberto, Ciccone, Roberto, Tenconi, Romano, Zuffardi, Orsetta
Publicado em 2007

NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

Por Riva, Paola, Corrado, Lucia, Natacci, Federica, Castorina, Pierangela, Wu, Bai-Li, Schneider, Gretchen H., Clementi, Maurizio, Tenconi, Romano, Korf, Bruce R., Larizza, Lidia
Publicado em 2000

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Por Gervasini, Cristina, Picinelli, Chiara, Azzollini, Jacopo, Rusconi, Daniela, Masciadri, Maura, Cereda, Anna, Marzocchi, Cinzia, Zampino, Giuseppe, Selicorni, Angelo, Tenconi, Romano, Russo, Silvia, Larizza, Lidia, Finelli, Palma
Publicado em 2013

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Por Russo, Silvia, Masciadri, Maura, Gervasini, Cristina, Azzollini, Jacopo, Cereda, Anna, Zampino, Giuseppe, Haas, Oskar, Scarano, Gioacchino, Di Rocco, Maja, Finelli, Palma, Tenconi, Romano, Selicorni, Angelo, Larizza, Lidia
Publicado em 2012

Toward the effective surveillance of hypospadias.

Por Dolk, Helen, Vrijheid, Martine, Scott, John E S, Addor, Marie-Claude, Botting, Bev, de Vigan, Catherine, de Walle, Hermien, Garne, Ester, Loane, Maria, Pierini, Anna, Garcia-Minaur, Sixto, Physick, Nigel, Tenconi, Romano, Wiesel, Awi, Calzolari, Elisa, Stone, David
Publicado em 2004

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sen...

Por Loconte, Daria C., Grossi, Valentina, Bozzao, Cristina, Forte, Giovanna, Bagnulo, Rosanna, Stella, Alessandro, Lastella, Patrizia, Cutrone, Mario, Benedicenti, Francesco, Susca, Francesco C., Patruno, Margherita, Varvara, Dora, Germani, Aldo, Chessa, Luciana, Laforgia, Nicola, Tenconi, Romano, Simone, Cristiano, Resta, Nicoletta
Publicado no PLoS One (2015)

Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C

Por Gripp, Karen W., Hopkins, Elizabeth, Sol-Church, Katia, Stabley, Deborah L., Axelrad, Marni E., Doyle, Daniel, Dobyns, William B., Hudson, Cindy, Johnson, John, Tenconi, Romano, Graham, Gail E., Sousa, Ana Berta, Heller, Raoul, Piccione, Maria, Corsello, Giovanni, Herman, Gail E., Tartaglia, Marco, Lin, Angela E.
Publicado em 2011

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Por van Bokhoven, Hans, Hamel, Ben C. J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H. G., Vanmolkot, Kaate R. J., van Beusekom, Ellen, van Beersum, Sylvia E. C., Celli, Jacopo, Merkx, Gerard F. M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R. W., Neri, Giovanni, Brunner, Han G.
Publicado em 2001

Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair

Por Cordeddu, Viviana, Di Schiavi, Elia, Pennacchio, Len A., Ma'ayan, Avi, Sarkozy, Anna, Fodale, Valentina, Cecchetti, Serena, Cardinale, Alessio, Martin, Joel, Schackwitz, Wendy, Lipzen, Anna, Zampino, Giuseppe, Mazzanti, Laura, Digilio, Maria C., Martinelli, Simone, Flex, Elisabetta, Lepri, Francesca, Bartholdi, Deborah, Kutsche, Kerstin, Ferrero, Giovanni B., Anichini, Cecilia, Selicorni, Angelo, Rossi, Cesare, Tenconi, Romano, Zenker, Martin, Merlo, Daniela, Dallapiccola, Bruno, Iyengar, Ravi, Bazzicalupo, Paolo, Gelb, Bruce D., Tartaglia, Marco
Publicado em 2009